Dian Donnai

Q: What Schools Are Affiliated With Dian Donnai

Dian Donnai is affiliated with the following schools: University College London, University of Florence, University of Manchester

Dian Donnai's AcademicInfluence.com Rankings

Dian Donnai

Biology

#8924

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#12067

Historical Rank

Genetics

#909

World Rank

#1005

Historical Rank

biology Degrees

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Biology

Dian Donnai's Degrees

Masters Medicine University of Manchester
Doctorate Medical Genetics University of Manchester

Why Is Dian Donnai Influential?

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According to Wikipedia, Professor Dian Donnai is a British medical geneticist. Biography Donnai studied at St Mary's Hospital Medical School, then trained in paediatrics at St Mary's Hospital, Northwick Park Hospital and in Sheffield.

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Dian Donnai'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

A clinical study of type 2 neurofibromatosis. (1992) (606)
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. (2001) (552)
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. (1992) (429)
Prevalence and architecture of de novo mutations in developmental disorders (2017) (405)
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene (2005) (397)
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. (2000) (302)
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR (2004) (301)
Williams syndrome: from genotype through to the cognitive phenotype. (2000) (299)
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes (2007) (295)
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. (2002) (262)
Mutations in CDMP1 cause autosomal dominant brachydactyly type C (1997) (258)
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. (1999) (246)
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. (2005) (244)
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. (2007) (233)
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. (1998) (224)
Evidence for 28 genetic disorders discovered by combining healthcare and research data (2020) (223)
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases (2005) (215)
GTF2IRD1 in Craniofacial Development of Humans and Mice (2005) (213)
The mutational spectrum in Waardenburg syndrome. (1994) (209)
Incontinentia pigmenti (Bloch-Sulzberger syndrome). (1993) (207)
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. (1997) (205)
A clinical study of type 1 neurofibromatosis in north west England (1999) (194)
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. (1998) (186)
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis (2009) (180)
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome (2011) (175)
A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. (1992) (172)
Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation (1999) (169)
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel‐Feil syndrome (2008) (168)
EYA4, a novel vertebrate gene related to Drosophila eyes absent. (1999) (166)
Discriminating power of localized three-dimensional facial morphology. (2005) (164)
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. (1997) (157)
Elastin: mutational spectrum in supravalvular aortic stenosis (2000) (153)
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. (2011) (151)
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum (2011) (146)
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres (1999) (145)
LIM–kinase deleted in Williams syndrome (1996) (145)
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism (2014) (142)
Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome. (1997) (127)
NANS-mediated synthesis of sialic acid is required for brain and skeletal development (2016) (119)
Proteus syndrome: an expanded phenotype. (1987) (119)
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations (2010) (118)
Disorganisation: a model for 'early amnion rupture'? (1989) (118)
Brachmann-de Lange syndrome. Delineation of the clinical phenotype. (1993) (113)
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly (1997) (110)
Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. (1988) (104)
A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. (1999) (103)
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. (2011) (102)
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2) (2015) (101)
X linked hydrocephalus and MASA syndrome. (1996) (101)
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. (2003) (100)
Outcome measurement in clinical genetics services: a systematic review of validated measures. (2008) (99)
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects (2002) (98)
Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome (2003) (96)
Mutations in PAX1 may be associated with Klippel–Feil syndrome (2003) (96)
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function (2009) (96)
Fetal valproate syndrome. (1995) (95)
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly (2004) (95)
Fetal valproate syndrome: is there a recognisable phenotype? (1987) (95)
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models (2002) (95)
The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. (2000) (94)
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B (2003) (93)
The emotional effects of genetic diseases: Implications for clinical genetics (2007) (92)
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. (1997) (92)
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. (1991) (92)
Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families. (1993) (91)
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance (2009) (90)
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. (1993) (86)
A possible human homologue for the mouse mutant disorganisation. (1989) (86)
Mutations in HPSE2 cause urofacial syndrome. (2010) (85)
Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. (1997) (83)
Orphanet Journal of Rare Diseases: Launch Editorial (2006) (82)
Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? (1993) (79)
Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis (1996) (77)
Norrie disease resulting from a gene deletion: clinical features and DNA studies. (1988) (75)
Choanal atresia and hypothelia following methimazole exposure in utero: a second report. (1998) (75)
A missense mutation confirms the L1 defect in X–linked hydrocephalus (HSAS) (1993) (74)
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients. (2015) (71)
Multiple pterygium syndrome: evolution of the phenotype. (1987) (70)
The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. (1986) (67)
Hypomelanosis of Ito (1992) (62)
Anorectal malformation: familial aspects and associated anomalies. (1987) (61)
Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. (1997) (59)
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. (2015) (58)
A complete physical contig and partial transcript map of the Williams syndrome critical region. (1999) (58)
Examination of fetuses after induced abortion for fetal abnormality. (1990) (58)
Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy (2008) (56)
Floating-Harbor syndrome. (1991) (54)
Integrated regional genetic services: current and future provision. (2001) (53)
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. (1995) (52)
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. (1987) (52)
DIPLOID/TRIPLOID MIXOPLOIDY AND HYPOMELANOSIS OF ITO (1986) (52)
Costello syndrome: two cases with embryonal rhabdomyosarcoma. (1998) (51)
Outcome measures for clinical genetics services: a comparison of genetics healthcare professionals and patients' views. (2007) (51)
Improving Service Evaluation in Clinical Genetics: Identifying Effects of Genetic Diseases on Individuals and Families (2007) (51)
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. (2008) (50)
Monozygotic twinning and Wiedemann-Beckwith syndrome. (1992) (50)
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams–Beuren syndrome (2004) (50)
What process attributes of clinical genetics services could maximise patient benefits? (2008) (49)
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator (2016) (49)
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study (2016) (49)
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia (2005) (48)
MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome (2013) (48)
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 (2011) (47)
GENE LOCATION IN TOURETTE SYNDROME (1987) (47)
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements (2010) (46)
The oculocerebrocutaneous (Delleman) syndrome. (1988) (46)
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved (2002) (45)
A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals (2001) (44)
Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5). (1992) (41)
Myhre and LAPS syndromes: clinical and molecular review of 32 patients (2014) (40)
Expanding the clinical spectrum of SLC29A3 gene defects. (2010) (39)
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity. (1983) (39)
ANTENATAL DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY (1979) (39)
A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome (1999) (38)
Genetic Services (2002) (38)
Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis. (1997) (37)
A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies. (1979) (36)
Fetal phenytoin exposure, hypoplastic nails, and jitteriness. (1991) (36)
Biliary atresia in Kabuki syndrome. (2000) (36)
Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? (1987) (35)
Refining the genetic location of the gene for X linked hydrocephalus within Xq28. (1993) (35)
Postaxial acrofacial dysostosis (Miller) syndrome. (1987) (34)
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation (2007) (34)
Dysmorphology demystified (2007) (34)
Symptomatic Chiari I malformation in Kabuki syndrome (2005) (34)
Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar). (1994) (33)
Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures (1981) (33)
Analysis of germline CDKN 1 C ( p 57 KIP 2 ) mutations in familial and sporadic Beckwith-Wiedemann syndrome ( BWS ) provides a novel genotype-phenotype correlation (1999) (33)
Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3. (1992) (33)
Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. (1996) (33)
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. (2014) (32)
Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics (2002) (32)
The influence of genetic counselling in the era of DNA testing on knowledge, reproductive intentions and psychological wellbeing (1994) (31)
X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions (2009) (31)
Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts. (1999) (30)
Abnormal corticospinal function but normal axonal guidance in human L1CAM mutations. (2001) (30)
The expression of CD18 is increased on Trisomy 21 (Down syndrome) lymphoblastoid cells. (1988) (30)
Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients (2002) (29)
Donnai-Barrow syndrome (2011) (29)
True telomeric translocation in a baby with the Prader-Willi phenotype. (1993) (28)
Haemangioma of the cord: further cause of raised maternal serum and liquor alpha-fetoprotein. (1980) (28)
The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage. (1991) (27)
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. (2018) (27)
A clinical and genetic study of the Say/Barber/Biesecker/Young‐Simpson type of Ohdo syndrome (2008) (27)
Anterior segment dysgenesis in mosaic Turner syndrome (1997) (26)
The contribution of X-linked coding variation to severe developmental disorders (2020) (25)
A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. (1999) (25)
Dominant inheritance of intracranial berry aneurysm. (1981) (25)
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction (2020) (24)
Prenatal diagnosis of mandibulofacial dysostosis (1984) (24)
Family implications of neonatal Gorlin's syndrome. (1991) (24)
Examination of fetuses after induced abortion for fetal abnormality—a follow‐up study (1994) (23)
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. (2015) (23)
Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance. (1997) (22)
Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. (1994) (22)
Male to male transmission of the G syndrome (1983) (22)
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. (1995) (22)
Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity (2013) (22)
Thanatophoric dysplasia of the straight-bone type (type 2). (1992) (22)
Brief clinical report: a further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation (1986) (21)
Autosomal dominant inheritance of Williams–Beuren syndrome in a father and son with haploinsufficiency for FKBP6 (2005) (21)
Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome). (1986) (21)
Medical and Experimental Mammalian Genetics: A Perspective (1988) (21)
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome. (1996) (20)
Ovarian cancer family and prophylactic choices. (1992) (20)
A further patient with the lethal type of Larsen syndrome. (1988) (20)
Stress after amniocentesis for high serum alpha-fetoprotein concentrations. (1980) (20)
Antenatal Diagnosis of Fetal Abnormalities (1991) (20)
Ectopia lentis et pupillae: the genetic aspects and differential diagnosis. (1991) (19)
Unbalanced 13;18 translocation and Williams syndrome. (1992) (19)
Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients. (1996) (18)
Nine novel L1 CAM mutations in families with X‐linked hydrocephalus (1997) (18)
Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio–facio–cutaneous syndrome (2011) (18)
Book Review: Ectodermal Dysplasia: A Clinical and Genetic Study (1986) (18)
Severe Silver-Russell syndrome. (1989) (18)
Cranial hemihypertrophy and neurodevelopmental prognosis. (1990) (18)
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3. (1997) (18)
Human Malformations and Related Anomalies (1994) (18)
Diploid/triploid mosaicism: a rare event or an under-diagnosed syndrome? (2011) (17)
Informative Morphogenetic Variants in the Newborn Infant (1989) (17)
Screening for Down's syndrome. (1988) (16)
Amniotic fluid acetylcholinesterase: a retrospective and prospective study of the qualitative method (1982) (16)
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene (1997) (16)
CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (16)
Is the UK public ready for genetic medicine? (2008) (16)
How clinicians add to knowledge of development (2003) (15)
A boy with severe manifestations of type A1 brachydactyly (1998) (15)
COMPARISON OF PREGNANCY OUTCOME AFTER AMNIOCENTESIS FOR PREVIOUS NEURAL TUBE DEFECT OR RAISED MATERNAL SERUM ALPHAFETOPROTEIN (1980) (15)
Molecular diagnosis is important to confirm suspected pseudoachondroplasia (2000) (15)
Prune belly in trisomy 13 (1986) (14)
The rise of point-of-care genetics: how the SARS-CoV-2 pandemic will accelerate adoption of genetic testing in the acute setting (2021) (13)
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. (2021) (13)
Pierpont Syndrome: A Collaborative Study (2011) (13)
DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME. AUTHORS' REPLY (1994) (13)
New Clinical Genetics (2010) (13)
Congenital malformation syndromes (1995) (13)
Diagnosis of Smith-Lemli-Opitz syndrome. (1994) (12)
Vaginal reflux and enuresis. (1972) (12)
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability (2021) (12)
Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome? (1988) (12)
Filippi syndrome: two cases with ectodermal features, expanding the phenotype (2004) (12)
Williams–Beuren Syndrome: More or less? Segmental duplications and deletions in the Williams–Beuren syndrome region provide new insights into language development (2006) (12)
Characterization of a YAC containing part or all of the Norrie disease locus. (1992) (12)
Kohlschutter syndrome in siblings (2005) (11)
Ankyloblepharon filiforme adnatum in trisomy 18 Edwards syndrome. (1990) (11)
Sotos syndrome: two cases with severe scoliosis. (2002) (11)
Cranial nerve agenesis in a fetus exposed to carbamazepine (1983) (11)
Testing of children for "adult" genetic diseases (1990) (10)
Genetic counselling and parental decisions following antenatal diagnosis of sex chromosome aneuploidies (1989) (9)
Disorganisation: a case with popliteal pterygia and placental-skin appendages. (1999) (9)
Bilateral brachial amelia with facial clefts and holoprosencephaly. (1994) (9)
Robertsonian translocations: Clues to imprinting (1993) (9)
Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms. (2002) (9)
A novel mutation of SOD‐1 (Gly 108 Val) in familial amyotrophic lateral sclerosis (1997) (8)
What can be offered to couples at (possibly) increased genetic risk? (2012) (8)
The management of the patient having fetal diagnosis. (1987) (8)
De novo ring chromosome 3: a new case with a mild phenotype. (1991) (8)
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor (2020) (7)
FALSE POSITIVE RESULTS WITH THE QUALITATIVE AMNIOTIC FLUID ACETYLCHOLINESTERASE TEST (1981) (7)
Myhre and LAPS syndromes: clinical and molecular review of 32 patients (2014) (7)
A familial dysmorphic condition with hypotonia, seizures and precocious puberty (2008) (6)
Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. (1990) (6)
Hypoplastic thumbs and hydranencephaly: a new syndrome? (1992) (5)
Heredity and dysmorphic syndromes in congenital limb deficiencies (1991) (5)
Tensions in implementing the new genetics. Genetic counsellors could be based in genetic centres but be formally linked to general practice. (2000) (5)
Linkage analysis in 16 families with incontinentia pigmenti. (1997) (5)
Obstetric Genetics (1991) (5)
A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis. (1989) (5)
Dysmorphology services: a snapshot of current practices and a vision for the future (2016) (4)
Correction: Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development (2017) (4)
BECKWITH-WIEDERMANN SYNDROME (1992) (4)
A new recessive syndrome of unusual facies and multiple structural abnormalities. (1991) (4)
TO JMG Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome (2003) (4)
Postaxial acrofacial dysostosis syndrome with vertebral segmentation defects. (1994) (4)
Isolated growth hormone deficiency and BPES (2002) (4)
Response to Drs. Cohen and Gorlin (1991) (4)
DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes (2010) (4)
Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis (2003) (4)
Examination of fetuses with a pre-termination diagnosis of neural tube defect or hydrocephalus. (1985) (3)
A further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation. (1986) (3)
Medical genetics. Past, present, future. (1987) (3)
"Disorganization" gene in mutations. (1990) (3)
Advances in dysmorphology: from diagnosis to treatment. (2009) (3)
Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy. (1981) (3)
The clinical significance of de novo structural rearrangements and markers detected prenatally by amniocentesis (1989) (3)
Professor Robin Michael Winter: 1950–2004. An appreciation (2004) (3)
Dysmorphic disorders — An overview (1994) (3)
NICHD conference. Robertsonian translocations: clues to imprinting. (1993) (3)
Anencephaly with spinal dysraphism, cleft lip and palate and limb reduction defects. (1994) (3)
Prenatal detection of aberrant tissue bands and cord abnormalities (1982) (3)
Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (2017) (3)
First Robert J. Gorlin Conference on Human Dysmorphology. Minneapolis, October 14th-15th 1991. (1992) (3)
Possum (1991) (3)
Genetic testing—swings and roundabouts: a view from the United Kingdom (2001) (2)
Preimplantation diagnosis with the polymerase chain reaction. (1989) (2)
Developing outcome measures for clinical genetics services: a triangulation approach [Abstract] (2008) (2)
Beckwith-Wiedemann syndrome. (1992) (2)
Dysmorphology and the ESHG (2017) (2)
Towards outcome measures for clinicl agenetis services: a comparison of genetics healthcare professinals and patients' views. (2006) (2)
Photographic documentation of syndrome diagnosis. (1997) (2)
Genetic contribution to neurodevelopmental disability: an overview (2003) (2)
Cumulative index: Birth defects, original article series (1983) (2)
Assessment of risk in the newborn: Congenital Anomalies (1983) (1)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (1)
Pathology of the Human Embryo and Previable Fetus. An Atlas (1991) (1)
Applied Human Genetics (2008) (1)
Professor Robin Michael Winter 1950–2004: An appreciation (2004) (1)
Active mooring line transducer for small scale physical model tests (2014) (1)
Human Embryonic and Fetal Death (1982) (1)
Complementation in a 45,X/47,XX,+14 patient? (2008) (1)
HLA study in a live-born infant with triploidy of paternal origin. (2008) (1)
Handbook of Normal Physical Measurements (1990) (1)
Screening for subtelomeric chromosome deletions in children with idiopathic mental retardation (1997) (1)
Geleophysic dysplasia and Myhre syndrome: Reply to Luis E. Figuera (1996) (1)
Geleophysic dysplasia and Myhre syndrome: Reply (1996) (1)
Reproductive Risks and Prenatal Diagnosis (1993) (1)
A new ectrodactyly syndrome? (1993) (0)
The psychosocial aspects of skeletal dysplasia and the impact of molecular genetic diagnosis - An exploratory study (2002) (0)
A colour atlas of clinical genetics (1984) (0)
Hypomelanosis ofIto: a manifestation ofmosaicism (1988) (0)
Hospital Career Structure (1968) (0)
DYSCERNE: Results from a pilot of the electronic Dysmorphology Diagnostic System (DDS) (2009) (0)
Developing appropriate models of service delivery in clinical genetics. (2004) (0)
X linked hydrocephalus within Xq 28 . Refining the genetic location of the gene for (0)
Birth Defects: Clinical and Ethical Considerations (1985) (0)
Ectopia lentis etpupillae: thegenetic aspectsand differential diagnosis (2011) (0)
Orphanet UK & Ireland, a growing Rare Disease resource (2009) (0)
Findings in LRP2 mutation positive versus LRP2 mutation negative cases referred for DBS (2008) (0)
The eleventh Robert J. Gorlin conference on dysmorphology (2002) (0)
Nowgen, A Center for Genetics in Healthcare. (2008) (0)
Chromosome Anomalies and Prenatal Development: An Atlas (1992) (0)
mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation (1999) (0)
Table 2. [Selected LRP2 Pathogenic Variants]. (2011) (0)
Robert J Gorlin, DDS, MS (1923–2006): a geneticist for all countries (2007) (0)
Fetal and Neonatal Pathology (1988) (0)
Figure 2. [MRI in a female age...]. (2011) (0)
What's new in the genetics of hydrocephalus and spina bifida? The Casey Holter Memorial Lecture 1993. (1993) (0)
Karyotype analysis is essential where ocular anomalies are associated with other malformations or intellectual handicap. (2003) (0)
UK Dysmorphology Group???13th May 1992 (1992) (0)
Characterisation of an atypical Williams syndrome patient using multidisciplinary approaches uncovers genes involved in facial dysmorphology and cognition (2004) (0)
Editorial (1988) (0)
abnormalities, an association withgenetically programmed ageing changes, andincreased chromosomal radiosensitivity (1996) (0)
Dhavendra Kumar (ed): Genomics and clinical medicine (2009) (0)
Mutations in HPSE 2 Identified in UFS Patients Family Ethnicity Nucleotide Change Exons (2010) (0)
Ovarian cancerfamily andprophylactic choices (2011) (0)
Smith Lemli Opitz syndrome: a variable phenotype caused by 7 dehydro cholesterol reductase deficiency. (1997) (0)
Orphanet UK 2011: More information, more specific and easier to retrieve (2011) (0)
DYSCERNE: An Online Educational Tool for Dysmorphology - Examination of a fetus with congenital abnormality (2009) (0)
2011 Report on the State of the Art of Rare Disease Activities in Europe of the European Union Committee of Experts on Rare Diseases - Part III: Activities in EU Member States and Other European Countries (United Kingdom) (2011) (0)
How can we measure whether clinical genetic services are effective (2004) (0)
DYSCERNE: Developing clinical management guidelines for dysmorphic conditions (2009) (0)
Human Embryology. The Development of Structure and Function (1987) (0)
2009 Report on iniciatives and incentives in the Field of Rare Diseases (United Kingdom) (2010) (0)
Letters to the Editor (1994) (0)
Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy (2019) (0)
Syndrome of the month X linked hydrocephalus and MASA syndrome (2004) (0)
Multiple etiologies for hemifacial microsomia (1999) (0)
An Atlas of Clinical Syndromes: A Visual Aid to Diagnosis (1993) (0)
DYSCERNE Results from the full European launch of the Electronic Dysmorphology Diagnostic System (DDS) (2010) (0)
Patient empowerment in clinical genetics services: a new model developed from qualitative research [Abstract] (2008) (0)
Orphanet UK: Ensuring quality of information (2014) (0)
Using discrete choice experiments to value preferences for a clinical genetic service (2004) (0)
Syndrome ofthemonth Incontinentia pigmenti (Bloch-Sulzberger syndrome) (1993) (0)
The oral-facial-digital syndrome type 1 (OFD1), a cause of glomerulocystic kidney disease (PKD), maps to Xp22.2-Xp22.3 (1999) (0)
Orphanet.co.uk and Orphanet.ie are for you (2013) (0)
Pre-conceptual genetic advice. (1983) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Donnai-Barrow Syndrome]. (2011) (0)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
Malformations in Children from One to Seven Years. A Report from the Collaborative Perinatal Project (1988) (0)
Noonan Syndrome (2006) (0)
What can be offered to couples at (possibly) increased genetic risk? (2012) (0)
Syndrome of the month Fetal valproate syndrome (0)
Multiple Congenital Anomalies (1991) (0)
Ronald David Gregg Tunbridge (2016) (0)
Teratogen Update: Environmentally Induced Birth Defect Risks (1988) (0)
Genetics in Medicine 2 . Adult life By (2014) (0)
Figure 1. [Face: same male with Donnai-Barrow...]. (2011) (0)
Book Review: Medical Genetics Past, Present, Future (1987) (0)
Issues and Reviews in Teratology (1989) (0)
Analysis of duplications on chromosome 22 reveals a novel Ret finger protein like (RFPL) gene family with sense and endogenous antisense transcripts. (1999) (0)
Counselling After Prenatal Diagnosis (1991) (0)
Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1 (2015) (0)
Syndactyly, micrognathia and skeletal anomalies: a new syndrome? (1998) (0)
From the WWW Dysmorphology Discussion Board. (1997) (0)
A Unique syndrome with facial, cranial, dental and skeletal features: possible relationship to maternal chikungunya exposure or an unidentified genetic cause? (2015) (0)
The DYSCERNE project has developed clinical management guidelines for Williams, Angelman, Noonan and Kabuki syndromes (2010) (0)
Genetic biochemical disorders (1986) (0)
Orphanet: more comprehensible information about rare diseases services in the UK (2011) (0)
2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
Current Concepts in Craniofacial Anomalies. A Symposium in Honour of Joseph J Bonner (1988) (0)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
DYSCERNE: An electronic Dysmorphology Diagnostic System (DDS) (2008) (0)
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2018) (0)

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