Joyce Harper

Q: What Schools Are Affiliated With Joyce Harper

Joyce Harper is affiliated with the following schools: Imperial College London, University College London, University of Oxford, Queen Elizabeth College

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Joyce Harper

Biology

#6902

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#9717

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Biotechnology

#123

World Rank

#125

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Genetics

#682

World Rank

#768

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Molecular Biology

#1236

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#1262

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Biology

Joyce Harper's Degrees

PhD Genetics University of Oxford

Why Is Joyce Harper Influential?

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According to Wikipedia, Joyce Harper is Professor of Reproductive Science at the Institute for Women's Health, University College London where she heads the Reproductive Science and Society group. She is director of the Embryology and PGD Academy and Global Women Connected.

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Joyce Harper's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

The U.K. Working Party's Diagnostic Criteria for Atopic Dermatitis. (1994) (1047)
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome (2000) (794)
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. (2010) (644)
ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003. (2008) (588)
ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. (2005) (406)
Juvenile localized scleroderma: clinical and epidemiological features in 750 children. An international study. (2006) (400)
Gene polymorphism in Netherton and common atopic disease (2001) (397)
Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients (1997) (388)
Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci (2001) (374)
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations (2008) (371)
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. (2005) (336)
Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma (2003) (325)
Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos (1995) (305)
Localized scleroderma in childhood is not just a skin disease. (2005) (303)
Inflammatory skin and bowel disease linked to ADAM17 deletion. (2011) (277)
The ESHRE PGD Consortium: 10 years of data collection. (2012) (276)
Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation, (FISH). (1993) (272)
Cyclosporin for severe childhood atopic dermatitis: short course versus continuous therapy (2000) (256)
CYCLOSPORIN FOR PSORIASIS (1984) (235)
ESHRE preimplantation genetic diagnosis consortium: Data collection III (May 2001) (2002) (223)
Filaggrin mutations in children with severe atopic dermatitis. (2007) (219)
Efficacy and safety of tacrolimus ointment compared with that of hydrocortisone acetate ointment in children with atopic dermatitis. (2002) (216)
ESHRE PGD consortium best practice guidelines for amplification-based PGD. (2011) (214)
Identification of the sex of human preimplantation embryos in two hours using an improved spreading method and fluorescent in-situ hybridization (FISH) using directly labelled probes. (1994) (214)
ESHRE PGD Consortium/Embryology Special Interest Group--best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). (2011) (209)
The causes of misdiagnosis and adverse outcomes in PGD. (2009) (207)
Oocyte cryopreservation: where are we now? (2016) (199)
Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results (2011) (197)
Propranolol for complicated infantile haemangiomas: a case series of 30 infants (2010) (196)
Preimplantation genetic diagnosis: State of the ART 2011 (2012) (193)
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. (2002) (191)
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. (2003) (190)
Evaluation of methotrexate and corticosteroids for the treatment of localized scleroderma (morphoea) in children (2006) (189)
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis (2013) (179)
What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium Steering Committee. (2010) (178)
Infertile couples with Robertsonian translocations: preimplantation genetic analysis of embryos reveals chaotic cleavage divisions (1998) (174)
A clinical and immunological study of Netherton's syndrome (1994) (162)
Treatment of infantile haemangiomas: recommendations of a European expert group (2015) (161)
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. (2011) (160)
When and how should new technology be introduced into the IVF laboratory? (2012) (153)
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues (2006) (152)
ESHRE PGD Consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008. (2010) (151)
Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diagnosis. (2003) (151)
Harper's Textbook of Pediatric Dermatology (2011) (149)
First experience of topical SDZ ASM 981 in children with atopic dermatitis (2001) (146)
ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening. (2011) (142)
Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation (2012) (139)
Comparative genomic hybridization analysis of human oocytes and polar bodies. (2006) (137)
IVF culture media: past, present and future. (2015) (130)
The use of arrays in preimplantation genetic diagnosis and screening. (2010) (130)
Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer. (2007) (130)
Long-term safety and efficacy of tacrolimus ointment for the treatment of atopic dermatitis in children. (2007) (130)
Real-world menstrual cycle characteristics of more than 600,000 menstrual cycles (2019) (128)
An appraisal of acitretin therapy in children with inherited disorders of keratinization (1996) (128)
The end of donor anonymity: how genetic testing is likely to drive anonymous gamete donation out of business. (2016) (126)
Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect (2005) (125)
Adjuncts in the IVF laboratory: where is the evidence for ‘add-on’ interventions? (2017) (123)
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. (2000) (122)
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. (1993) (122)
0·03% tacrolimus ointment applied once or twice daily is more efficacious than 1% hydrocortisone acetate in children with moderate to severe atopic dermatitis: results of a randomized double‐blind controlled trial (2004) (120)
Time to take human embryo culture seriously. (2016) (119)
Keratitis–ichthyosis–deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients (2007) (118)
Testicular histopathology as a predictor of a positive sperm retrieval in men with non‐obstructive azoospermia (2013) (118)
Juvenile-onset localized scleroderma activity detection by infrared thermography. (2002) (114)
Linear morphoea follows Blaschko’s lines (2008) (112)
ESHRE preimplantation genetic diagnosis (PGD) consortium: data collection II (May 2000). (2000) (111)
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). (1994) (111)
Detailed FISH analysis of day 5 human embryos reveals the mechanisms leading to mosaic aneuploidy. (2005) (110)
The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists, and embryologists. (2016) (109)
What next for preimplantation genetic screening? A polar body approach! (2009) (108)
FISH analysis on day 5 post‐insemination of human arrested and blastocyst stage embryos (2000) (105)
ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007. (2009) (104)
What next for preimplantation genetic screening? (2008) (103)
ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: preliminary assessment of data from January 1997 to September 1998. ESHRE PGD Consortium Steering Committee. (1999) (103)
Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses (1994) (103)
ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006. (2008) (101)
Expression profiling of DNA repair genes in human oocytes and blastocysts using microarrays. (2009) (101)
Ichthyosis bullosa of Siemens--a disease involving keratin 2e. (1994) (98)
ESHRE PGD Consortium data collection IV: May-December 2001. (2005) (92)
Genetics and Genodermatoses (2008) (92)
Childhood-onset scleroderma: is it different from adult-onset disease. (1996) (90)
Successful treatment of isolated subglottic haemangioma with propranolol alone. (2009) (88)
‘Wet‐wrap’ dressings for the treatment of atopic eczema in children (1991) (87)
Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism (1999) (86)
Laser Doppler flowmetry for assessing localized scleroderma in children. (2007) (84)
ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004. (2007) (84)
A 4‐year follow‐up study of atopic dermatitis therapy with 0·1% tacrolimus ointment in children and adult patients (2008) (83)
A multicenter study of the pharmacokinetics of tacrolimus ointment after first and repeated application to children with atopic dermatitis. (2005) (83)
Transfer of embryos into the uterus: How much do technical factors affect pregnancy rates? (2005) (82)
The skin barrier, atopic dermatitis and allergy: a role for Langerhans cells? (2007) (81)
Chromosome 11 q13 and atopy underlying atopic eczema (1993) (80)
Treatment of patients with atopic dermatitis using wet‐wrap dressings with diluted steroids and/or emollients. An expert panel's opinion and review of the literature (2006) (80)
Recent developments in genetics and medically assisted reproduction: from research to clinical applications (2017) (79)
A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis. (2013) (78)
Detection of aneuploidy by array comparative genomic hybridization using cell lines to mimic a mosaic trophectoderm biopsy. (2012) (76)
Lipoid proteinosis: an inherited disorder of collagen metabolism? (1985) (75)
ESHRE PGD consortium best practice guidelines for fluorescence in situ hybridization-based PGD. (2011) (74)
Variable aneuploidy mechanisms in embryos from couples with poor reproductive histories undergoing preimplantation genetic screening. (2007) (74)
Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome-derived skin grafts. (2011) (73)
The eye in epidermolysis bullosa (1999) (70)
Neonatal erythroderma: differential diagnosis and management of the “red baby” (1998) (68)
Analysis of the evolution of chromosome abnormalities in human embryos from Day 3 to 5 using CGH and FISH. (2007) (68)
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy (2013) (67)
ESHRE PGD consortium data collection VII: cycles from January to December 2004 with pregnancy follow-up to October 2005. (2008) (65)
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR (2014) (65)
Polar body array CGH for prediction of the status of the corresponding oocyte. Part II: technical aspects (2011) (65)
Misdiagnosis and delay in referral of children with localized scleroderma (2011) (64)
LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome (2004) (64)
Bone mineralization in children with epidermolysis bullosa (2005) (63)
Treatment Effect of Omalizumab on Severe Pediatric Atopic Dermatitis: The ADAPT Randomized Clinical Trial. (2019) (63)
A study of matrix metalloproteinase expression and activity in atopic dermatitis using a novel skin wash sampling assay for functional biomarker analysis (2010) (63)
Vascular anomalies in Proteus syndrome (2004) (62)
Genetic studies of atopy and atopic dermatitis (1997) (62)
Dynamics and ethics of comprehensive preimplantation genetic testing: a review of the challenges. (2013) (62)
Skin microflora of atopic eczema in first time hospital attenders (1993) (61)
Clinical experience with preimplantation diagnosis of sex by dual fluorescent in situ hybridization (1994) (59)
Recent advances and future developments in PGD (1999) (59)
Variations in humanized and defined culture conditions supporting derivation of new human embryonic stem cell lines. (2006) (59)
Long term follow up of topical mustine treatment for cutaneous Langerhans cell histiocytosis (2000) (58)
Bone changes and their significance in children with ichthyosis on long‐term etretinate therapy (1992) (55)
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. (2014) (55)
Toxic pustuloderma--a new entity? (1984) (53)
Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements (2003) (53)
Preimplantation genetic diagnosis. (2000) (52)
A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCR (2001) (52)
CLINICAL EXPERIENCE WITH PREIMPLANTATION GENETIC DIAGNOSIS OF CYSTIC FIBROSIS (ΔF508) (1996) (51)
Pre-implantation genetic diagnosis. (2000) (51)
Presence of chromosomal mosaicism in abnormal preimplantation embryos detected by fluorescence in situ hybridisation (1994) (51)
The current status of preimplantation diagnosis (1994) (51)
Relative efficiency of FISH on metaphase and interphase nuclei from non‐mosaic trisomic or triploid fibroblast cultures (2000) (50)
Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders (2002) (50)
PTEN mutations are uncommon in Proteus syndrome (2001) (49)
Extensive venous/lymphatic malformations causing life‐threatening haematological complications (2007) (49)
Papuloerythroderma--a further case with the 'deck chair sign'. (1986) (49)
Cyclosporin for Atopic Dermatitis in Children (2001) (49)
Role of the pulsed dye laser in the management of ulcerated capillary haemangiomas. (1996) (49)
Dermatological aspects of the use of Cyclosporin A for prophylaxis of graft‐versus‐host disease (1984) (49)
The need to improve fertility awareness (2017) (47)
Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis. (2010) (46)
A clinical and genetic study of X‐linked recessive ichthyosis and contiguous gene defects (1994) (46)
Juvenile xanthogranuloma as a sequel to Langerhans cell histiocytosis: a report of three cases (2001) (46)
A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception (1999) (46)
Propranolol for infantile haemangiomas: single centre experience of 250 cases and proposed therapeutic protocol (2014) (45)
Hutchinson–Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature (2007) (45)
New role for LEKTI in skin barrier formation: label-free quantitative proteomic identification of caspase 14 as a novel target for the protease inhibitor LEKTI. (2010) (45)
Cystic fibrosis presenting as kwashiorkor with florid skin rash. (1993) (45)
The status of preimplantation genetic testing in the UK and USA (2020) (42)
Congenital malignant melanoma of the eye (1991) (42)
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex (1998) (42)
Junctional epidermolysis bullosa and pyloric atresia: a distinct entity. Clinical and pathological studies in five patients (1995) (42)
Pregnancy following preimplantation genetic diagnosis for Crouzon syndrome. (2002) (40)
Effect of pimecrolimus cream 1% on the long‐term course of pediatric atopic dermatitis (2004) (40)
Accreditation of the PGD laboratory. (2010) (40)
Eczema herpeticum: a potentially fatal disease. (1987) (40)
Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? (2005) (39)
Preimplantation genetic diagnosis (PGD), a collaborative activity of clinical genetic departments and IVF centres (2001) (38)
Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation (1992) (38)
Immunological Studies of herpes simplex virus infection in children with atopic eczema (1996) (38)
Killed Mycobacterium vaccae suspension in children with moderate‐to‐severe atopic dermatitis: a randomized, double‐blind, placebo‐controlled trial (2006) (38)
Preimplantation genetic diagnostic protocols for α‐ and β‐thalassaemias using multiplex fluorescent PCR (2001) (37)
Detection of chromosomal abnormalities in human preimplantation embryos using FISH (1996) (36)
Persistent kallikrein 5 activation induces atopic dermatitis‐like skin architecture independent of PAR2 activity (2017) (36)
Development and production of good manufacturing practice grade human embryonic stem cell lines as source material for clinical application. (2016) (36)
Omenn's Syndrome: Differential Diagnosis in Infants with Erythroderma and Immunodeficiency (2001) (34)
Sperm chromatin dispersion test in the assessment of DNA fragmentation and aneuploidy in human spermatozoa. (2011) (34)
Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia. (1993) (33)
Intraepidermal collagen type VII in dystrophic epidermolysis bullosa: report of five new cases (1992) (33)
A mechanistic target of rapamycin complex 1/2 (mTORC1)/V-Akt murine thymoma viral oncogene homolog 1 (AKT1)/cathepsin H axis controls filaggrin expression and processing in skin, a novel mechanism for skin barrier disruption in patients with atopic dermatitis (2017) (32)
Depletion of alcohol (hexanol) dehydrogenase activity in the epidermis and jejunal mucosa in Sjögren-Larsson syndrome. (1990) (32)
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. (2013) (32)
Investigation of gene expression profiles before and after embryonic genome activation and assessment of functional pathways at the human metaphase II oocyte and blastocyst stage. (2013) (32)
Validation of a protocol for the assessment of skin temperature and blood flow in childhood localised scleroderma (2009) (31)
Detection of fertilization in embryos with accelerated cleavage by fluorescent in-situ hybridization (FISH). (1994) (31)
Preimplantation diagnosis of genetic and chromosomal disorders (1994) (30)
Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome (2009) (30)
Acute infectious erythemas in children: a clinico‐microbiological study (1991) (30)
Bilateral facial capillary malformation associated with eye and brain abnormalities. (2006) (30)
Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome. (2013) (29)
Successful preimplantation genetic diagnosis for sex linked Lesch–Nyhan syndrome using specific diagnosis (1999) (29)
Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series. (2019) (29)
Neonatal haemangiomatosis associated with placental chorioangiomas: report of three cases and review of the literature (2009) (28)
Congenital self‐healing Langerhans cell histiocytosis with persistent cellular immunological abnormalities (1990) (27)
ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene (2004) (27)
Great Ormond Street Hospital treatment guidelines for use of propranolol in infantile isolated subglottic haemangioma (2013) (27)
How should we choose the ‘best’ embryo? A commentary on behalf of the British Fertility Society and the Association of Clinical Embryologists (2015) (26)
The effect of GM-CSF on development and aneuploidy in murine blastocysts. (2012) (26)
Factors influencing the outcome of intrauterine insemination (IUI): Age, clinical variables and significant thresholds (2013) (26)
Preimplantation genetic diagnosis for myotonic dystrophy type 1 in the UK (2008) (26)
Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia: a new syndrome (1991) (26)
Do à la carte menus serve infertility patients? The ethics and regulation of in vitro fertility add-ons. (2019) (26)
Carcinoma of the tongue in a boy with xeroderma pigmentosum * (1981) (26)
Molecular comparison of single cell MDA products derived from different cell types. (2009) (26)
A pilot study showing pulsed‐dye laser treatment improves localized areas of chronic atopic dermatitis (2008) (26)
Factors influencing intracytoplasmic sperm injection (ICSI) outcome in men with azoospermia (2013) (26)
ATOPIC ECZEMA IN HIV-SEROPOSITIVE HAEMOPHILIACS (1987) (26)
Restrictive dermopathy: a disorder of fibroblasts (1992) (25)
Serine proteases, their inhibitors and allergy (2006) (25)
Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplification. (2010) (25)
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis (2007) (24)
Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of crossover between the gene and the linked marker APOC2 (2007) (24)
Growth of herpes simplex type 1 on skin explants of atopic eczema (1996) (24)
Histopathological features of Proteus syndrome (2008) (23)
Topical recombinant alpha1-antitrypsin: a potential treatment for Netherton syndrome? (2006) (23)
A proposal for classification of entities combining vascular malformations and deregulated growth. (2011) (23)
Port‐wine stains and eczema (2001) (23)
Preimplantation diagnosis of inherited disease by embryo biopsy: An update of the world figures (1996) (23)
Zinc deficiency in a preterm neonate with necrotizing enterocolitis. (1984) (22)
Obstetric outcome of pregnancies resulting from embryos biopsied for pre‐implantation diagnosis of inherited disease (1996) (22)
Lichen planus pemphigoides in a child—immunopathological findings (1993) (21)
A successful strategy for preimplantation diagnosis of medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency (2000) (21)
Oropharyngeal and laryngeal lesions in lipoid proteinosis (1983) (21)
Inherited ichthyoses: a review of the histology of the skin. (1996) (21)
Generation and clinical application of gene modified autologous epidermal sheets in Netherton syndrome - lessons learned from a phase 1 trial. (2019) (21)
The use of fluorescent in-situ hybridization (FISH) for the analysis of in-vitro fertilization embryos: a diagnostic tool for the infertile couple. (1995) (20)
Percutaneous Absorption in Preterm Infants (1987) (20)
Mycosis fungoides involving the oral mucosa in a child (2003) (20)
Squamous cell carcinoma in a child with Clericuzio‐type poikiloderma with neutropenia (2013) (20)
A closer look at expanded carrier screening from a PGD perspective (2017) (20)
Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡ (2017) (20)
Bilateral black hypopyon in a patient with self-healing cutaneous malignant melanoma. (1983) (20)
Chinese herbs for eczema (1990) (20)
Rothmund–Thomson syndrome and osteosarcoma (1993) (20)
Lipoid proteinosis: variations in the histochemical characteristics * (1983) (20)
‘Wet wrap’ dressings for eczema: an effective treatment but not to be misused (2002) (19)
Pre-implantation genetic diagnosis. (2000) (19)
The identification of a new role for LEKTI in the skin: The use of protein 'bait' arrays to detect defective trafficking of dermcidin in the skin of patients with Netherton syndrome. (2012) (19)
The impact of selected embryo culture conditions on ART treatment cycle outcomes: a UK national study (2020) (19)
The prevalence, promotion and pricing of three IVF add-ons on fertility clinic websites (2020) (19)
Morphea (localized scleroderma). (2007) (19)
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. (2005) (19)
Sialoblastoma arising in ectopic salivary gland tissue. (2009) (19)
Investigation of the chromosome 17q25 PSORS2 locus in atopic dermatitis. (2005) (19)
Preimplantation genetic screening (2018) (19)
Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome? (2000) (18)
Complete cytogenetic investigation of oocytes from a young cancer patient with the use of comparative genomic hybridisation reveals meiotic errors (2006) (18)
Richner-Hanhart Syndrome (Oculo-Cutaneous Tyrosinaemia, Tyrosinaemia Type II) (1992) (18)
The role of cutaneous dendritic cells in the immunopathogenesis of atopic dermatitis (2001) (18)
Genetics of gametes and embryos. (2004) (17)
Pulsed dye laser treatment for inflammatory linear verrucous epidermal naevus (2001) (17)
Ultrasonographic appearance and abdominal haemorrhage associated with a juvenile granulosa cell tumour in a foal (2010) (16)
Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome. (2013) (16)
Childhood pemphigus foliaceus (1991) (16)
Surgical Treatment of Periocular Hemangiomas: A Single-Center Experience (2007) (16)
Preimplantation genetic diagnosis for retinoblastoma predisposition (2006) (16)
Increased incidence of mosaicism detected by FISH in murine blastocyst cultured in vitro. (2010) (16)
Human involucrin promoter mediates repression-resistant and compartment-specific LEKTI expression. (2012) (16)
Ectodermal dysplasia--an unusual dental presentation. (2006) (16)
Preimplantation genetic diagnosis (2000) (15)
Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. (1998) (15)
FISH in Preimplantation Diagnosis. (1996) (15)
The need for interaction between assisted reproduction technology and genetics: recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology. (2006) (15)
Primary cutaneous CD30+ T‐cell lymphoproliferative disorder following cardiac transplantation in a 15‐year‐old boy with Netherton's syndrome (2005) (15)
The need for interaction between assisted reproduction technology and genetics (2006) (15)
Topical methoxsalen photochemotherapy in the treatment of palmoplantar pustulosis and psoriasis. (1979) (15)
Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508). (1996) (15)
EXPRESSION OF DONOR ALLERGIC RESPONSE PATTERNS BY BONE MARROW TRANSPLANT RECIPIENTS (1984) (15)
Dermatitis Artefacta Presenting as a ‘Vasculitis’ 1 (1983) (15)
Waxy keratoses of childhood (1994) (14)
Congenital hypertrichosis lanuginosa and congenital glaucoma (1991) (14)
Lipoatrophic panniculitis and chromosome 10 abnormality (2000) (14)
Gomez–Lopez–Hernandez syndrome: another consideration in focal congenital alopecia (2007) (14)
Quality control standards in PGD and PGS. (2016) (14)
Epidermolysis bullosa simplex with mottled pigmentation (1993) (13)
Cryoglobulinaemia and angiomatosis * (1983) (13)
PGD protocols using multiplex fluorescent PCR. (2001) (13)
Processes involved in assisted reproduction technologies significantly increase sperm DNA fragmentation and phosphatidylserine translocation (2014) (13)
The interface between medically assisted reproduction and genetics: technical, social, ethical and legal issues (2006) (12)
Prospective evaluation of treatment response and disease reversibility of paediatric localized scleroderma (morphoea) to steroids and methotrexate using multi‐modal imaging (2020) (12)
BONE MARROW TRANSPLANTATION FOR DYSKERATOSIS CONGENITA (1992) (12)
The influence of ovarian response on gamete intra-Fallopian transfer outcome in older women. (1992) (12)
Cyclosporine for psoriasis: beneficial effect in refractory skin and joint disease. (1988) (12)
Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH (2000) (12)
Retinal neovascularisation in Goltz syndrome (focal dermal hypoplasia) (1999) (12)
Do fertility tracking applications offer women useful information about their fertile window? (2020) (12)
Extensive naevus comedonicus in a child with Alagille syndrome (1994) (12)
Using an introduction website to start a family: implications for users and health practitioners (2017) (12)
The International Fertility Education Initiative: research and action to improve fertility awareness (2021) (11)
Automated overlay of infrared and visual medical images (2008) (11)
Rapid diagnosis of cutaneous herpes simplex infections using specific monoclonal antibodies (1994) (11)
Phacomatosis Pigmentokeratotica (2003) (11)
The clinical benefit and safety of current and future assisted reproductive technology. (2012) (11)
Disseminated porokeratosis in an infant with craniosynostosis (1990) (11)
Cutaneous graft versus host disease. (1987) (11)
Papuloerythroderma in a Woman (1988) (10)
Haemangioma of the head and neck with subglottic involvement and atypical coarctation (2000) (10)
Utilization of preimplantation genetic testing in the USA (2021) (10)
Successful outcomes achieved in assisted reproduction cycles using sperm with high levels of high DNA stainability (2015) (10)
Data from the ESHRE PGD consortium (2010) (10)
The orthopaedic presentation and management of Sjögren-Larsson syndrome. (1999) (10)
Bullous pemphigoid in an infant using complementary medicine (2009) (10)
Quantification of n‐alkanes in stratum corneum in the hereditary ichthyoses (1992) (9)
Are we ready for genome editing in human embryos for clinical purposes? (2019) (9)
FISH and Embryo Sexing to Avoid X‐Linked Disease (2002) (9)
Use of an alternative method to evaluate erythema severity in a clinical trial: difference in vehicle response with evaluation of baseline and postdose photographs for effect of oxymetazoline cream 1·0% for persistent erythema of rosacea in a phase IV study (2019) (9)
Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins. (1996) (9)
Sternal malformation/vascular dysplasia syndrome with linear hypopigmentation (2006) (9)
Atopic eczema, hyponatraemia, and hypoalbuminaemia. (1990) (8)
Letterer-Siwe disease with nail involvement. (1983) (8)
Venous malformation associated nerve profiles and pain: an immunohistochemical study. (2011) (8)
Pregnancies resulting from embryos biopsied for preimplantation diagnosis of genetic disease: Biochemical and ultrasonic studies in the first trimester of pregnancy (1996) (8)
Current controversies in prenatal diagnosis 4: preimplantation genetic screening should be routinely offered to all preimplantation genetic diagnosis cases (2016) (8)
Comprar Preimplantation Genetic Diagnosis 2Ed | Alan H. Handyside | 9780521884716 | Cambridge University Press (2009) (8)
Identifying a hyperkeratosis signature in autosomal recessive congenital ichthyosis: Mdm2 inhibition prevents hyperkeratosis in a rat ARCI model. (2014) (8)
An unusual ectodermal dysplasia with unique eye defects (2005) (8)
(54) Lipodystrophia centrifugalis (1985) (8)
Childless by circumstance – Using an online survey to explore the experiences of childless women who had wanted children (2020) (7)
The use of expanded carrier screening of gamete donors (2021) (7)
Faecal Incontinence due to Perianal Cellulitis (1991) (7)
Colonization of the Neonate with Staphylococci and Gram Negative Bacilli (1967) (7)
Mediastinal involvement in lymphangiomatosis: a previously unreported MRI sign (2011) (7)
Chinese herbs for eczema (1990) (7)
The epidemiology of atopic dermatitis. (2002) (7)
An online survey of perimenopausal women to determine their attitudes and knowledge of the menopause (2022) (7)
Psoriasis, cyclosporin A, and AIDS. (1987) (7)
Leiner's disease associated with metabolic acidosis (1989) (7)
Analysis of fertility clinic marketing of complementary therapy add-ons (2021) (7)
Comprar Harper. Textbook of Pediatric Dermatology. 3rd Ed. 2 Vols | Arnold Oranje | 9781405176958 | Blackwell Publishing (2011) (6)
Discarding IVF embryos: reporting on global practices (2019) (6)
Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma. (2017) (6)
The quantification of free sphingosine in the stratum corneum of patients with hereditary ichthyosis (1993) (6)
Period tracker applications: What menstrual cycle information are they giving women? (2021) (6)
Management of eczema herpeticum. (1988) (6)
Feasibility and acceptability of theatrical and visual art to deliver fertility education to young adults (2019) (6)
An Infant with Chronic Articular and Cutaneous Manifestations: A New Syndrome? (1989) (5)
Lethal congenital erythroderma: a newly recognised genetic disorder (1992) (5)
Inherited skin disorders : the genodermatoses (1996) (5)
In-Vitro Fertilization by Kay Elder (2010) (5)
Topical Corticosteroids for Skin Disorders in Infants and Children (2012) (5)
Management of traumatic oral-facial injury in the hemophiliac patient with inhibitor: case report. (1993) (5)
Comprar Biological Mechanisms of Tooth Movement | John Harper | 9781405176903 | Wiley (2009) (5)
Nance‐Sweeney chondrodysplasia—a further case? (1996) (5)
A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays (2010) (5)
Erythroderma resembling sézary syndrome after treatment with Fansidar and chloroquine. (1986) (4)
Subacute cutaneous lupus erythematosus (SCLE): a distinct subset of LE (1982) (4)
Legalization and Islamic Bioethical Perspectives on Prenatal Diagnosis and Advanced Uses of Pre implantation Genetic Diagnosis in Saudi Arabia (2013) (4)
Fertility treatment delays during COVID-19: Profiles, feelings and concerns of impacted patients (2022) (4)
Isolation of new therapeutically suitable human embryo stem cell lines without direct exposure to animal cell products (2006) (4)
Erythroderma, palmoplantar keratoderma and profound failure to thrive in an infant (1991) (4)
Automated overlay of visual and thermal medical images. (2006) (4)
Comparison of embryonic development in cleavage stage mouse embryo biopsy between acid Tyrode's solution and laser assisted techniques. (2001) (4)
Guidelines to Management of Atopic Dermatitis (2011) (4)
Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyoses (1991) (4)
Pregnancy following gamete intra-fallopian transfer (GIFT) with cryopreserved semen from infertile men following therapy to lymphomas or testicular tumour: report of three cases. (1991) (4)
Hairy elbows syndrome (familial hypertrichosis cubiti) (1994) (4)
Preimplantation Genetic Diagnosis: Introduction to preimplantation genetic diagnosis (2009) (4)
Current controversies in prenatal diagnosis 1: Is aneuploidy testing by PGD indicated for all infertile patients undergoing IVF? (2009) (4)
ALUMINIUM AND INFANT FORMULAE (1989) (4)
In-Vitro Fertilization: Cryopreservation of gametes and embryos (2010) (3)
Preimplantation diagnosis of trisomies 13, 14, 18 & 21 in translocation carriers using multicolour fluorescent in situ hybridisation (FISH). (1995) (3)
Genetic diagnosis before implantation (1997) (3)
In vitro fertilization: Preimplantation genetic diagnosis (2000) (3)
(19) Ulcerative lichen planus of the mouth and feet (1985) (3)
Juvenile Localized Scleroderma: Clinical Epidemiological Features of 688 Patients (2003) (3)
Laser Doppler flowmetry for assessing localized scleroderma (morphoea) in children (2007) (3)
Bio-electrosprayed human sperm remain viable (2019) (3)
Genetic databases and donor anonymity. (2019) (3)
Thymostimulin (TP‐1) therapy for atopic eczema (1988) (3)
The reproductive outcome following a superhigh response to stimulation in gamete intrafallopian transfer program (1991) (3)
Psoriasis, razoxane and a cutaneous B‐cell lymphoma (1987) (3)
Obstetric outcome of pregnancies resulting from preimplantation diagnosis of inherited disease. (1996) (3)
(1) Junctional epidermolysis bullosa in two brothers: survival and intrafamilial variation (1991) (3)
Cutaneous Graft Versus Host Disease in Childhood (1987) (3)
In-Vitro Fertilization: Gametes and gametogenesis (2010) (2)
SELECTED ORAL COMMUNICATION SESSION, SESSION 17: EMBRYOLOGY AND GENETICS, Monday 4 July 2011 15:15 - 16:30 (2011) (2)
(9) Pretibial epidermolysis bullosa: the use of homograft skin dressings (1983) (2)
In-Vitro Fertilization: Endocrine control of reproduction: Controlled ovarian hyperstimulation for ART (2010) (2)
A double-blind cross-over trial of thymostimulin in atopic eczema (1983) (2)
Sex and fertility education in England: an analysis of biology curricula and students’ experiences (2022) (2)
Session 40: Embryo metabolism (2013) (2)
R-174. Detection of a chromosome 21 imbalance in oocytes and embryos from preimplantation genetic diagnosis cycles using FISH (1997) (2)
Monitoring of methotrexate adverse effects in a paediatric dermatology cohort (2013) (2)
Plastic skin replicas for photomicroscopy (1984) (2)
Emeritus Professor Ian Logan Craft FRCS FRCOG: a ‘Universal Genius’ with scientific and artistic qualities (2019) (2)
Morphoea (localized scleroderma): assessment of disease activity and evaluation of treatment using systemic steroids and methotrexate (2005) (2)
The 7th international conference on early prenatal diagnosis: Some personal impressions (1995) (2)
The use of FISH for genetic diagnosis and analysis of human preimplantation embryos. (1994) (2)
Passion, pressure and pragmatism: how fertility clinic medical directors view IVF add-ons. (2022) (2)
(3) Arginosuccinic aciduria (1985) (2)
A survey of women’s experiences of using period tracker applications: Attitudes, ovulation prediction and how the accuracy of the app in predicting period start dates affects their feelings and behaviours (2022) (2)
Positional cloning of susceptibility genes for atopic dermatitis in the epidermal differentiation complex (2007) (2)
Predictive value of Monash IVF scoring system for embryo development to blastocyst and pregnancy (1997) (2)
The History of Paediatric Dermatology (2011) (1)
(41) Beekeepers' dermatitis: contact allergy to beeswax, beesglue (propolis) and Royal Jelly (1983) (1)
GLUT-1 expression in paediatric vascular skin lesions: Are infantile haemangiomas a distinct entity? (2003) (1)
A child with xeroderma pigmentosum and G6PD deficiency (1982) (1)
Detection of chromosomal abnormalities in single cells from epithelial cell lines by array comparative genomic hybridisation (2009) (1)
In Memoriam: Arnold P. Oranje, 1948-2016. (2017) (1)
Time to Pregnancy for Women Using a Fertility Awareness Based Mobile Application to Plan a Pregnancy (2021) (1)
Successful PGD for sex linked Lesch Nyhan Syndrome using specific diagnosis (1999) (1)
Morphoea (Localized Scleroderma) (2011) (1)
Reply I: Embryo culture media effects. (2017) (1)
Micromanipulation: biopsy in laboratory guide to the mammalian embryo (2002) (1)
Production of gene modified epithelial sheets for phase 1 clinical trial for Netherton Syndrome (2013) (1)
Report of the ESHRE Preimplantation Genetic Diagnosis Consortium (2000) (1)
Preimplantation Genetic Diagnosis: Assisted reproductive technologies (2009) (1)
Role of plakophilin 1 in epithelial development and desmosome function (1998) (1)
Current evidence for ART practice: the Cochrane of Cochranes on optimising outcomes (2013) (1)
PGD protocols using multiplex fluorescent PCR: beta-thalassaemia SEA mutation (2001) (1)
The value of visual evoked potentials in the evaluation of periorbital hemangiomas. (2005) (1)
Razoxane regimen for the treatment of psoriasis * (1982) (1)
Session 09: PGD & PGS Session (2010) (1)
Herpes zoster, homosexuality and atopy (1984) (1)
C12 Preimplantation genetic diagnosis for BRCA 1/2 (2010) (1)
Selected abstracts submitted to the Third International Symposium on Hereditary Breast and Ovarian Cancer (2009) (1)
Semen quality at cryobanking before oncologic treatment (2010) (1)
Malignant Histiocytosis Presenting with Skin Ulceration (1982) (1)
The use of FISH for the analysis of IVF embryos: a diagnostic tool for the infertile couple. (1995) (1)
In-Vitro Fertilization: Implantation and early stages of fetal development (2010) (1)
Chromosome analysis of human preimplantation embryos from fertile patients (1997) (1)
Inherited diseases--the genodermatoses. (1982) (1)
Atopic eczema after viral infection. (1982) (1)
Atopic dermatitis and chromosome 2q (1994) (1)
858 ORAL TREATMENT OF INHERITED VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA (MMA) (1985) (1)
2 PERCUTANEOUS ABSORPTION AT VARIOUS AGES IN PRETERM INFANTS (1986) (1)
Human Embryology and Teratology. Second Edition. By Ronan O'Rahilly and Fabiola Muller (1996) (1)
Menopause knowledge and education in women under 40: Results from an online survey (2022) (1)
Razoxane regimen for the treatment of psoriasis (1982) (0)
P17 The use of FISH and TUNEL to study the effect of GM-CSF on aneuploidy and DNA fragmentation in murine blastocysts cultured in vivo and in vitro (2012) (0)
P-469 Period Tracker Applications – are they giving women accurate menstrual cycle information? (2021) (0)
T cells in patients with Netherton syndrome and atopic dermatitis show a Th-2 bias (2004) (0)
Preimplantation Genetic Diagnosis: Preface (2009) (0)
Embryo and Polar Body Biopsy (2002) (0)
P▪41 The application of comparative genomic hybridization for the detection of aneuploidy in oocytes and first polar bodies (2005) (0)
Up-regulated expression of Kallikrein 5 in atopic dermatitis (2012) (0)
Immunohistochemical comparison of the nerve profile of vascular malformations: Implications for clinical management of venous malformation associated pain (2011) (0)
Towards accreditation of the PGD laboratory (2009) (0)
I153 Update on preimplantation genetic diagnosis (2009) (0)
Gene expression profiling of human oocytes and embryo blastocysts (2009) (0)
Persistent kallikrein5 activation induces atopic dermatitis-like skin (2017) (0)
Functional assessment of mismatch repair in human nuclear extracts (2008) (0)
In-Vitro Fertilization: First stages of development (2000) (0)
Telling donor-conceived children about their conception: Evaluation of the use of the Donor Conception Network children’s books (2021) (0)
G52(P) The Rapid Eczema Severity Score (RESS) (2014) (0)
P-494 A survey of women’s experiences, behaviours and attitudes of using period tracker applications (apps) (2022) (0)
In vitro fertilization: Micromanipulation techniques (2000) (0)
Detection of chromosomal aneuploidy in embryos from PGD cases for monogenic disorders (2009) (0)
Transfallopian tube embryo transfer: Successful pregnancy outcome (1990) (0)
A genome-wide search for linkage to atopic dermatitis and underlying quantitative traits (2000) (0)
Cyclosporine in severe A multicenter study childhood atopic dermatitis (1996) (0)
Cytogenetic analysis of embryos from couples carrying balanced chromosomal translocations undergoing preimplantation genetic diagnosis (2007) (0)
P-493 Sex and fertility education in the UK: an analysis of biology curricula and students’ experiences (2022) (0)
Preimplantation genetic diagnosis (PGD), a collaborative activity of clinical genetic departments and IVF centres. Prenatal Diagnosis 21(12) 2001, 1086–1092 (2002) (0)
IN MEMORIAM: Yury Verlinsky (1 September 1943–16 July 2009) (2009) (0)
Protocols for more accurate preimplantation genetic diagnosis of cystic fibrosis mutations (2000) (0)
Good Clinical Practice in Assisted Reproduction: Clinical aspects of preimplantation genetic diagnosis (2004) (0)
Bullous congenital ichthyosiform erythroderma of brocq caused by both disruptive and highly conservative amino acid substitutions in the 1A domain of keratins 1 and 10 (1993) (0)
PGD protocols using multiplex fluorescent PCR: myotonic dystrophy (2001) (0)
Human susceptibility to aneuploidy and the link to infertility (2008) (0)
PGD registries: ESHRE PGD Consortium (2008) (0)
Lipoid proteinosis: a lysosomal storage disease? (1983) (0)
NF kappa B signalling and STAT3 localisation are altered in an in vitro model of lamellar ichthyosis (2011) (0)
Genetische Präimplantationsdiagnostik in Europa (2001) (0)
Akt-1 mediates nuclear lamin degradation in keratinocytes and the expression of Cathepsin H a novel epidermal protease involved in profilaggrin processing (2013) (0)
Preimplantation genetic diagnosis for non-syndrornic deafness (2006) (0)
Preimplantation Genetic Testing (2019) (0)
NOVEL GLOMULIN MUTATIONS, WHICH ALTER VASCULAR SMOOTH MUSCLE CELL DIFFERENTIATION AND RESULT IN GLOMUVENOUS MALFORMATIONS, REVEAL STRONG FOUNDER EFFECT FOR TWO OF THE MUTATIONS (2004) (0)
Inheritance of the DMPK CTG repeat in couples undergoing PGD for DM1 (2008) (0)
Clinical experience with preimplantation diagnosis of deltaF508 deletion in cystic fibrosis. (1996) (0)
Graft‐Versus‐Host Disease (2011) (0)
O-111 The International Fertility Education Initiative (2022) (0)
Recent advances in molecular and molecular cytogenetic techniques have enabled the diagnosis of some inherited diseases from a single cell. (1998) (0)
Harper. Textbook of Pediatric Dermatology. 3rd Ed. 2 Vols (2011) (0)
0243: Preimplantation Genetic Diagnosis - What Brca1 and 2 Gene Carriers Think (2006) (0)
O-048 Con: Add-ons should not be offered to patients without solid evidence from clinical trials (2021) (0)
Identification of a hyperkeratosis "signature" in lamellar ichthyosis: Mdm2 inhibition prevents hyperkeratosis in lamellar ichthyosis models (2013) (0)
Erratum / Book Review (2001) (0)
染色体22qに位置するCDAGS症候群(頭蓋骨癒合症、大泉門閉鎖遅延ならびに頭蓋欠損、肛門ならびに生殖器形成不全および皮膚発疹)を有する4系統の候補遺伝子分析 (2005) (0)
Follow-up analysis of untransferred embryos following PGD for monogenic disorders (2009) (0)
Clinical grade lentiviral vector production for inherited skin disease (2012) (0)
28th Annual Meeting of the British Society for Paediatric Dermatology, London, 8–9 November 2013 (2014) (0)
Chromosome analysis of preimplantation embryos (2005) (0)
Preimplantation genetic diagnosis: State of the ART 2011 (2011) (0)
Annual Conference of the Association of Clinical Embryologists, held at The Bristol Marriott Royal Hotel, 4–5th, January 2010 (2010) (0)
Is the use of IVF add-on treatments driven by patients or clinics? Findings from a UK patient survey. (2023) (0)
Atopic dermatitis is the most common chronic inflammatory skin disease and is a major cause of morbidity and suffering. This review examines its differing prevalence worldwide, its aetiology, and genetics. The epidemiology of atopic dermatitis (2002) (0)
NEW DEBATE What next for preimplantation genetic screening (2008) (0)
GMP-compliant SPINK5 lentiviral vector corrects keratinocyte stem cells isolated from patients with Netherton syndrome (2014) (0)
Detection of chromosome imbalance in human oocytes and first polar bodies using FISH (1997) (0)
Reproductive genetics Accreditation of the PGD laboratory (2010) (0)
Picture of the month - Periocular hemangioma: An eye-opening experience (2007) (0)
Morphoea (Synonym: Localized Scleroderma) (2006) (0)
O-199: Complete molecular cytogenetic analysis of human oocytes and polar bodies (2006) (0)
Preimplantation Genetics and Diagnosis (1999) (0)
Future Developments in PGD (2002) (0)
A unilateral facial mass in a neonate (2008) (0)
The role of the diet in atopic dermatitis.: Chapter 3.8 (2000) (0)
Evidence for variable aneuploidy mechanisms in embryos from couples with distinct indications for preimplantaion genetic screening (PGS) (2007) (0)
The nerve lesions following sclerotherapy with sodium tetradecylsulfate in children with venous malformations (2013) (0)
Over-expression and altered localisation of MDM2 in lamellar ichthyosis (2012) (0)
Oral azathioprine for the treatment of childhood eczema: safety profile and guidelines for monitoring (2013) (0)
The nature and origin of binucleate cells in human preimplantation embryos (2007) (0)
The pursuit of a diagnosis for every embryo in PGD (2008) (0)
Human sperm DNA integrity and its relation with aneuploidy and semen parameters (2010) (0)
Pragmatism versus purity : effectiveness of the key informant methodology in a developing rural setting C (2007) (0)
Juvenile Localized Scleroderma in the first year of life (2004) (0)
O-10 Comparing the development, aneuploidy, and DNA fragmentation rate of murine embryos cultured in a standard incubator and time-lapse (2013) (0)
Mutations in the p63 gene and genotype-phenotype correlation in ectodermal dysplasia syndromes (2004) (0)
Editorial - Diagnosis before implantation (1997) (0)
(13) Familial Darier's disease with skeletal and neurological complications (1991) (0)
Session 19: Reproduction and Genetics (2010) (0)
, Alpesh retinoblastoma predisposition Preimplantation genetic diagnosis for (2007) (0)
An mTORC1/AKT1/Cathepsin H axis controls filaggrin expression and processing in skin, a novel mechanism for skin barrier disruption in Atopic Dermatitis (2016) (0)
An online survey of postmenopausal women to determine their attitudes and knowledge of the menopause. (2023) (0)
In vitro fertilization: Preface (2000) (0)
Production of gene engineered epithelia sheets for first-in-man use (2013) (0)
Picture of the month. Diagnosis: periocular hemangioma: an eye-opening experience. (2007) (0)
Human involucrin promoter resists spreading methylation and supports compartment specific gene expression in engineered skin grafts (2011) (0)
Management of a Preimplantation Genetic Diagnosis and Screening Service (2016) (0)
Islamic ethical and legal framework and current practice of PGD/PGS and PND in Saudi Arabia (2009) (0)
ESHRE PGD Consortium Steering Committee* as which culture medium to use, and emphasizing the role the PGD Consortium could play in setting up guidelines (1999) (0)
Evidence of different mechanisms of aneuploidy in embryos from couples with distinct indications for preimplantation genetic screening (2007) (0)
Juvenile xanthogranuloma as a sequal to Langehans vell histocytosis: a report of three cases (2001) (0)
Periocular Hemangioma: An Eye-Opening Experience (2007) (0)
α-Thalassaemia SEA mutation (2001) (0)
A leap in the LEOPARD phenotype (2007) (0)
Neonatal mastocytosis: A case of systemic aggressive mast cell disease due to c-kit mutation (2006) (0)
S149 Principals of therapy in paediatric skin (1997) (0)
(25 and 26) Two children with acrodermatitis enteropathica: zinc sulphate monohydrate therapy (1991) (0)
Mechanisms leading to mosaicism in human preimplantation embryos (2003) (0)
In-Vitro Fertilization: Review of cell and molecular biology (2010) (0)
An online survey of UK women’s attitudes to having children, the age they want children and the effect of the COVID-19 pandemic (2022) (0)
Running title : Outcome of intrauterine insemination (2016) (0)
The effect of GM-CSF on murine embryo development, aneuploidy, DNA fragmentation and morphokinetic parameters analysed using EmbryoScopeo (2013) (0)
An altered pattern and high incidence of multiple meiotic errors in women of advanced maternal age undergoing IVF (2011) (0)
The impact of an elective single embryo transfer programme on success rates within a clinical assisted reproductive setting (2011) (0)
O-15. PGD of five single-gene disorders (2002) (0)
Preimplantation genetic diagnosis of inherited cancer predisposition syndromes; outcome of eight referrals (2000) (0)
Novel mutations in SPINK5 encoding a serine-protease inhibitor in Netherton syndrome, a severe congenital ichthyosis with hair abnormalities and atopic manifestations (2000) (0)
Strategies for successful pre-implantation genetic diagnosis (1998) (0)
(10) Infantile myofibromatosis and magnetic resonance imaging (1992) (0)
Sjögren‐Larsson syndrome: a disorder of fatty alcohol metabolism (1990) (0)
A microbiological study of atopic eczema (1991) (0)
Candidate gene analysis in 4 families with CDAGS syndrome (craniosynostosis, delayed fontanel closure and cranial defects, anal and genital anomalies and skin eruption) mapping to chromosome 22q (2005) (0)
Juvenile chronic arthritis, systemic lupus erythematosis and dermatomyositis (2005) (0)
A clinico‐microbiological study of toxic erythemas in children (1990) (0)
P–485 A systematic analysis of acupuncture for IVF treatment: how should the HFEA traffic light scale for add-ons rate it? (2021) (0)
Main Plenary Sessions: Summaries of Papers (2005) (0)
Plakophilin 1: Partial genomic organisation and mutations resulting in ectodermal dysplasia/skin fragility syndrome (1998) (0)
A homozygous deletion mutation in ADAM17 underlies an autosomal recessive inflammatory skin and bowel disease (2011) (0)
Positional cloning of a susceptibility gene for childhood eczema from chromosome 1q21 (2005) (0)
Graft‐versus‐host disease (GVHD), and its modification by photochemotherapy (PUVA) (1984) (0)
Laser Treatment for Cutaneous Vascular Anomalies (2011) (0)
Diagnosis of ADULT ectodermal dysplasia syndrome by molecular screening of the p63 gene (2004) (0)
Venous Malformation Associated Nerve Profiles are not Distinctive from Other Vascular Malformations; Implications for Clinical Management of Pain (2010) (0)
Erythema Multiforme, Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis (2016) (0)
P–469 Period Tracker Applications – are they giving women accurate menstrual cycle information? (2021) (0)
Report of the ESHRE PGD Consortium 2006 (2006) (0)
Royal academy of medicine in Ireland section of dermatology (1993) (0)
Preimplantation Genetic Screening of Embryos for IVF (2019) (0)
Periorbital Portwine Stain—A Report of 216 Cases (2006) (0)
Functional assessment of mismatch repair (2011) (0)
In-Vitro Fertilization: Stem cell biology (2010) (0)
The role of Toll-like receptor-2 and nuclear factor-kappa B signalling in hyperkeratosis in lamellar ichthyosis (2012) (0)
Lentiviral Mediated LEKTI Expression Reverses the Netherton Syndrome Phenotype (2010) (0)
7.013 Preimplantation genetic diagnosis for familial hypercholesterolaemia (2008) (0)
P-069 Men’s fertility knowledge and attitudes to starting a family in Greece, Nepal and the UK (2022) (0)
Stimulating fertility awareness: the importance of getting the language right (2023) (0)
Chronic activation of Toll-like receptor 2 induces an ichthyotic skin phenotype (2022) (0)
haemangiomas . management of ulcerated capillary Role of the pulsed dye laser in the (2006) (0)
C008 Genetic disorders predisposing to skin malignancies (1997) (0)
R-173. Chaotic cleavage divisions observed in embryos of Robertsonian translocation carriers during preimplantation genetic diagnosis (1997) (0)
P2 Sex chromosome abnormalities in embryos from women undergoing PGS: Focus on meiotic errors involving the X-chromosome (2010) (0)

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