Martin Bobrow

Q: What Schools Are Affiliated With Martin Bobrow

Martin Bobrow is affiliated with the following schools: University of Oxford, University of Cambridge

Martin Bobrow's AcademicInfluence.com Rankings

Martin Bobrow

Biology

#2763

World Rank

#4341

Historical Rank

Genetics

#217

World Rank

#263

Historical Rank

biology Degrees

Download Badge

Biology

Martin Bobrow's Degrees

Bachelors Biochemistry University of Oxford

Why Is Martin Bobrow Influential?

(Suggest an Edit or Addition)

According to Wikipedia, Martin Bobrow is a British geneticist, and Emeritus Fellow, Wolfson College, Cambridge. Bobrow graduated in South Africa and then migrated to the United Kingdom. He held chairs of medical genetics at the University of Amsterdam and at Guy's Hospital, and from 1995 to 2005 was professor of medical genetics at Cambridge University.

(See a Problem?)

Martin Bobrow'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

International network of cancer genome projects (2010) (1839)
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases (1993) (1078)
The UK10K project identifies rare variants in health and disease (2015) (926)
Polygenic susceptibility to breast cancer and implications for prevention (2002) (840)
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation (2009) (582)
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation (1993) (531)
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features (2004) (528)
Technique for Identifying Y Chromosomes in Human Interphase Nuclei (1970) (442)
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel (2015) (296)
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. (1988) (272)
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation (2007) (248)
Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9. (1972) (237)
The β2-microglobulin gene is on chromosome 15 and not in the HL-A region (1975) (231)
GENETICS OF CLASSIC ALPORT'S SYNDROME (1988) (208)
Sister chromatid exchanges--a sensitive assay of agents damaging human chromosomes. (1975) (202)
Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial (2004) (199)
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. (2007) (199)
Point mutations in the dystrophin gene. (1992) (197)
Prepublication data sharing (2009) (190)
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. (1996) (189)
Uptake of cystic fibrosis testing in primary care: supply push or demand pull? (1993) (179)
A federated ecosystem for sharing genomic, clinical data (2016) (177)
AMNIOTIC-FLUID ACETYLCHOLINESTERASE AS A POSSIBLE DIAGNOSTIC TEST FOR NEURAL-TUBE DEFECTS IN EARLY PREGNANCY (1979) (175)
Nondirectiveness in genetic counseling: an empirical study. (1997) (171)
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. (2004) (170)
Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. (1991) (168)
Exon structure of the human dystrophin gene. (1993) (165)
Predictive genetic testing in children and adults: a study of emotional impact (2001) (164)
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. (2007) (160)
Medical Research Council European Trial of chorion villus sampling (1991) (159)
Standard karyotype of the Norway rat, Rattus norvegicus. Committee for a standardized karyotype of rattus norvegicus. (1973) (151)
Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations (1994) (150)
Differential staining of human and mouse chromosomes in interspecific cell hybrids (1974) (149)
Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13 (1975) (146)
Prenatal detection of unbalanced chromosomal rearrangements by array CGH (2005) (143)
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport (2016) (131)
Genetic counselling: the psychological impact of meeting patients' expectations. (1997) (124)
Definitive Evidence for the Short Arm of the Y Chromosome associating with the X Chromosome during Meiosis in the Human Male (1970) (122)
Human gene mapping using an X/autosome translocation (1976) (116)
A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods. (1991) (113)
A deletion hot spot in the Duchenne muscular dystrophy gene. (1988) (111)
Counselling following diagnosis of a fetal abnormality: the differing approaches of obstetricians, clinical geneticists, and genetic nurses. (1994) (108)
Length variation in the quinacrine-binding segment of human Y chromosomes of different sizes. (1971) (107)
Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up (1996) (106)
Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene. (1990) (106)
Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring. (1975) (104)
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. (2006) (100)
The GRAIDS Trial: a cluster randomised controlled trial of computer decision support for the management of familial cancer risk in primary care (2007) (97)
Data Sharing in the Post-Genomic World: The Experience of the International Cancer Genome Consortium (ICGC) Data Access Compliance Office (DACO) (2012) (94)
Deletions in the 5' region of dystrophin and resulting phenotypes. (1994) (92)
Public Access to Genome-Wide Data: Five Views on Balancing Research with Privacy and Protection (2009) (92)
Dystrophins in vertebrates and invertebrates. (1998) (91)
Fluorescent staining of the Y chromosome in meiotic stages of the human male. (1970) (91)
A method for generating hybrids containing nonselected fragments of human chromosomes. (1989) (90)
Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. (1992) (90)
Psychological consequences for parents of false negative results on prenatal screening for Down's syndrome: retrospective interview study (2000) (89)
Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR. (1992) (84)
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. (1989) (84)
The impact of population based screening for carriers of cystic fibrosis. (1994) (82)
The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE. (1993) (82)
Quinacrine Fluorescence in Mammalian Chromosomes (1971) (82)
Rapid screening for ΔF 508 deletion in cystic fibrosis (III) (1989) (78)
The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. (1995) (78)
Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA (1990) (78)
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. (2007) (77)
The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. (1994) (76)
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain (2004) (76)
Genomic cloud computing: legal and ethical points to consider (2014) (75)
The natural history of Down syndrome conceptuses diagnosed prenatally that are not electively terminated. (1995) (75)
Characterization of DRP2, a novel human dystrophin homologue (1996) (73)
Numbers or words? A randomized controlled trial of presenting screen negative results to pregnant women (2000) (71)
Structural variation in chromosome No 9. (1974) (71)
The effects of various banding procedures on human chromosomes, studied with acridine orange. (1973) (70)
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans (2014) (69)
Localization of the gene for classic Alport syndrome. (1989) (68)
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study. (1992) (68)
Data Safe Havens in health research and healthcare (2015) (68)
A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. (1986) (67)
The sites of radiation induced-breakage in human lymphocyte chromosomes, determined by quinacrine fluorescence. (1973) (66)
Paracentric inversions in man. (1984) (66)
The identification of a repeated DNA sequence involved in the karyotype polymorphism of the human Y chromosome. (1978) (65)
Fertility in a male with trisomy 21. (1989) (65)
Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals † (2002) (64)
Genetics and Human Behaviour: the ethical context (2002) (64)
Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA). (1995) (64)
Implications for clinical services in Britain and the United States (1998) (62)
Generation of novel sequence tagged sites (STSs) from discrete chromosomal regions using Alu-PCR. (1991) (61)
242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread. (1991) (61)
A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. (1995) (59)
Results of first year (1989) of a national register of Down's syndrome in England and Wales. (1991) (58)
X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease. (1992) (57)
Prenatal diagnosis by array-CGH. (2005) (57)
Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy. (1989) (57)
Information recall in genetic counselling: a pilot study of its assessment. (1997) (54)
An assessment of screening strategies for fragile X syndrome in the UK. (2001) (53)
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability (1992) (52)
Parents' responses to predictive genetic testing in their children: report of a single case study. (1996) (52)
Para-nucleolar Position of the Human Y Chromosome in Interphase Nuclei (1971) (51)
Assignment of the human locus determining phosphoglycolate phosphatase (PGP) to chromosome 16 (1980) (51)
A comparison of public and professionals' attitudes towards genetic developments (1995) (49)
Assignment of the DIA1 locus to chromosome 22 (1977) (48)
Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome (1991) (48)
ABSENCE OF ANY OBSERVED EFFECT OF ULTRASONIC IRRADIATION ON HUMAN CHROMOSOMES (1971) (48)
Raising concerns about family history of breast cancer in primary care consultations: prospective, population based study (2001) (47)
Evidence for the assignment of the loci AK1, AK3 and ACONs to chromosome 9 in man (1976) (47)
Genetic information and testing in insurance and employment: technical, social and ethical issues (2003) (46)
Managing clinically significant findings in research: the UK10K example (2014) (45)
Ethics review for international data-intensive research (2016) (45)
The search for a human equivalent of the mouse T-locus - negative results from a study of HL-A types in spina bifida. (1975) (44)
ANTENATAL SCREENING IN OXFORD FOR FETAL NEURAL TUBE DEFECTS (1979) (43)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (43)
A comparison of chimpanzee and human chromosomes using the Giemsa-11 and other chromosome banding techniques. (1973) (42)
Counselling following Diagnosis of Fetal Abnormality: A Comparison between German, Portuguese and UK Geneticists (1994) (42)
Cytogenetic versus DNA diagnosis in routine referrais for fragile X syndrome (1993) (41)
Duplication-deficiency product of a pericentric inversion in man: a cause of D 1 trisomy syndrome. (1973) (40)
RAPID SCREENING FOR ΔF508 DELETION IN CYSTIC FIBROSIS (1989) (39)
Analysis of national register of Down's syndrome in England and Wales: trends in prenatal diagnosis, 1989-91. (1993) (38)
X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene? (1992) (38)
A complex chromosomal rearrangement with formation of a ring 4. (1971) (37)
Consent recommendations for research and international data sharing involving persons with dementia (2018) (37)
Detection of novel genetic markers by mismatch analysis. (1989) (37)
Determinants of Sex Proportions in Man, with Consideration of the Evidence Concerning a Contribution from X-linked Mutations to Intrauterine Death (1967) (37)
Chromosome banding with acridine orange. (1972) (36)
Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy. (1993) (36)
Confirmation and further regional assignment of aminoacylase 1 (ACY‐1) on human chromosome 3 using a simplified detection method (1980) (35)
Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis (2000) (33)
EARLY ANTENATAL DIAGNOSIS OF EXOMPHALOS (1980) (33)
Childhood cancer and nuclear installations (1993) (32)
Infidelity in the structure of ectopic transcripts: A novel exon in lymphocyte dystrophin transcripts (1993) (32)
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis (2019) (31)
Patents in a genetic age (2001) (29)
Down's syndrome births and pregnancy terminations in 1989 to 1993: preliminary findings (1995) (29)
Clinical, cytogenetic, and molecular analysis of three families with FRAXE. (1997) (28)
Familial translocation (3p 15p) with partial trisomy for the upper arm of chromosome 3 in two sibs. (1976) (26)
Point mutation in a Becker muscular dystrophy patient. (1993) (26)
Satellite sequences in chimpanzee (Pan troglodytes). (1973) (26)
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients (1995) (25)
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy. (1989) (25)
Nucleoli, micronucleoli, and nucleolus-like structures in human oocytes at meiotic prophase I studied by the silver-NOR technique. (1983) (24)
A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22. (1994) (24)
A MaeIII polymorphism near the dystrophin gene promoter by restriction of amplified DNA. (1990) (24)
Two cases of X/autosome translocation in females with incontinentia pigmenti (2004) (24)
The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy. (1987) (22)
DNA rearrangements in the α5(IV) collagen gene (COL4A5) of individuals with alport syndrome: Further refinement using pulsed-field gel electrophoresis (1992) (22)
PRENATAL TESTING FOR DUCHENNE AND BECKER MUSCULAR DYSTROPHY (1988) (22)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2018) (22)
Parents attributions of blame for the birth of a child with down syndrome: A pilot study (1997) (22)
Expression of the dystrophin-related protein 2 (Drp2) transcript in the mouse. (1997) (22)
Emery and Rimoin's principles and practice of medical genetics (3rd edn) (1997) (22)
Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population. (1991) (22)
Construction of a 5.2-megabase physical map of the human X chromosome at Xq22 using pulsed-field gel electrophoresis and yeast artificial chromosomes. (1993) (22)
Counselling following the Prenatal Diagnosis of Klinefelter Syndrome: Comparisons between Geneticists and Obstetricians in Five European Countries (2001) (22)
Objectives of genetic counselling: differing views of purchasers, providers and users. (1998) (21)
Comparative sequence analysis (CSA): A new sequence‐based method for the identification and characterization of mutations in DNA (2000) (21)
Monozygotic Twins with Ring Chromosome 22 (1973) (20)
The screening of Duchenne muscular dystrophy patients for submicroscopic deletions. (1986) (20)
Review of the Origin of BSE (2001) (20)
Nonrandom segregation of nucleolar organizing chromosomes at mitosis? (1980) (19)
The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization (1988) (18)
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion (1987) (18)
Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles. (1992) (18)
A survey of diagnostic amniocenteses in Oxford from 1974–1981 (1985) (18)
Unreliability of fetal sexing using cervical material. (1971) (17)
Sequence and chromosomal location of a human homologue of LRPR1, an FSH primary response gene. (1996) (17)
FISH detection of trisomy 21 in interphase by the simultaneous use of two differentially labelled cosmid contigs. (1994) (17)
Linkage studies in Duchenne and Becker muscular dystrophies. (1986) (17)
Ring-1 chromosome, microcephalic dwarfism, and acute myeloid leukemia. (1973) (17)
Public attitudes towards the selection of desirable characteristics in children (1995) (15)
Monitoring Trends in Prenatal Diagnosis of Down's Syndrome in England and Wales, 1989–92 (1994) (15)
Medical genetics, the human genome project and public health (2000) (15)
Probable assignment of the locus determining human red cell acid phosphatase ACP1 to chromosome 2 using somatic cell hybrids (1974) (15)
DNA deletions in mild and severe Becker muscular dystrophy (1987) (15)
ABSENCE OF DYSTROPHIN IN BECKER MUSCULAR DYSTROPHY (1989) (15)
Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family (1999) (14)
Long-range mapping of the gene for the human α5(IV) collagen chain at Xq22–q23 (1992) (14)
The use of quinacrine fluorescence in the identification of B and E group chromosomes involved in structural abnormalities. (1971) (14)
Balancing privacy with public benefit (2013) (14)
WHERE HAVE ALL THE FRAGILE X BOYS GONE? (1993) (14)
Direct diagnosis of carriers of point mutations in Duchenne muscular dystrophy (1993) (14)
Analysis of five years of controlled access and data sharing compliance at the International Cancer Genome Consortium (2016) (13)
Familial occurrence of azoospermia and extreme oligozoospermia (1984) (13)
Reinvestigation of two X/autosome translocations:segregation in cell hybrids. (1978) (13)
45, XO/46, XYq dic mosaicism in a patient with ambiguous genitalia (1976) (13)
Assignment of the locus ACONM to chromosome 22. (1978) (13)
KARYOTYPING AMNIOTIC FLUIDS FROM PATIENTS WITH HIGH SERUM ALPHA-FETOPROTEIN (1981) (13)
CLINICAL DILEMMAS ARISING FROM THE ANTENATAL DIAGNOSIS OF NEURAL TUBE DEFECTS (1979) (13)
Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates. (1991) (13)
Incontinentia pigmenti and X-autosome translocations (1989) (13)
Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles. (1993) (12)
Molecular deletions in the Duchenne/Becker muscular dystrophy gene (1989) (12)
Acridine orange and the investigation of chromosome banding. (1974) (12)
Redrafted Chinese law remains eugenic. (1995) (12)
Cellular content of amniotic fluid as predictor of central nervous system malformations. (1978) (11)
Population screening for cystic fibrosis (1992) (11)
Enduclease analysis of Y chromosome DNA. (1978) (11)
Alport's syndrome or hereditary nephritis? (1987) (11)
The gene for the species antigen on human chromosome 11 is on the short arm. (1976) (11)
Funders must encourage scientists to share (2015) (10)
REGIONAL LOCALISATION OF THE HUMAN α-GLOBIN GENES (1981) (10)
Pillars Article: The Gene Involved in X-linked Agammaglobulinaemia Is a Member of the Src Family of Protein-Tyrosine Kinases. Nature. 1993. 361: 226–233 (2012) (10)
Construction of a yeast artificial chromosome contig encompassing the human alpha 5(IV) collagen gene (COL4A5). (1992) (9)
The molecular genetics of Alport syndrome: report of two workshops. (1992) (9)
A random STS strategy for construction of YAC contigs spanning defined chromosomal regions. (1992) (9)
Carcinoembryonic antigen (CEA) expression in somatic cell hybrids (1982) (9)
Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome. (1989) (9)
A MseI polymorphism in exon 48 of the dystrophin gene. (1991) (9)
Assignment of the genes for human mitochondrial malate dehydrogenase to chromosome 7, for mannose phosphate isomerase and pyruvate kinase to chromosome 15, and, probably, for human esterase-D to chromosome 13 using man-mouse hybrids. (1975) (8)
Identification of region-specific yeast artificial chromosomes using pools of Alu element-mediated polymerase chain reaction probes labeled via linear amplification. (1992) (8)
An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient. (1993) (8)
Confirmation of the assignment of the locus determining ADA to chromosome 20 in man: data on possible synteny of ADA and ITP in human-Chinese hamster somatic cell hybrids. (1976) (8)
Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome. (1991) (8)
A linkage study of Emery-Dreifuss muscular dystrophy (1986) (8)
Heterochromatic chromosome variation and reproductive failure. (1985) (8)
Abnormal chromosome complement after normal amniocentesis result (1992) (8)
Mitochondrial and cytoplasmic forms of fumarate hydratase assigned to chromosome 1. (1976) (8)
Domino hepatic transplantation using the liver from a patient with familial amyloid polyneuropathy. Unrelated Live Transplant Regulatory Authority (ULTRA) (1999) (8)
Fertility in a male with trisomy 21. (1989) (7)
Regional mapping of chromosome 15. (1978) (7)
Linkage of emery-dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII (1992) (7)
Genetic Research: Friend or Foe? (2001) (7)
Report on the 16th ENMC workshop—Carrier diagnosis of Duchenne and Becker muscular dystrophy Baarn, The Netherlands, 18–20 September 1992 (1993) (7)
DNA DELETION IN BOY WITH BECKER MUSCULAR DYSTROPHY (1986) (7)
The expression of creatine kinase isozymes in human cultured cells (1979) (7)
RNA Polymerase (Cold Spring Harbor Monograph Series) (1977) (6)
Radiation-induced disease. (1993) (6)
Gene mapping data – recommendations for more efficient dissemination (1983) (6)
Patents in a genetic age. (2000) (6)
The parental origin of mutations causing Duchenne muscular dystrophy. (1988) (6)
Regulate research at the animal–human interface (2011) (5)
Cell cycle studies in chorionic villi (1988) (5)
Premature Chromosome Condensation. Application in Basic, Clinical, and Mutation Research (1984) (5)
VITAMIN SUPPLEMENTATION AND NEURAL TUBE DEFECTS (1982) (5)
Open science and community norms (2012) (5)
Population genetic screening programmes. Proposed recommendations of the European Society of Human Genetics (vol 8, pg 998, 2000) (2000) (5)
Assignment of a gene necessary for the expression of mitochondrial glutamic-oxaloacetic transaminase in human-mouse hybrid cells. (1978) (5)
Assignment to chromosome 16 of a gene necessary for the expression of human mitochondrial glutamate oxaloacetate transaminase (aspartate aminotransferase) (E.C. 2.6.1.1.) (1980) (5)
Congenital Abnormalities and the Pathologist (1987) (5)
Seminar on ethical issues arising from molecular studies in human genetic disease: held under the auspices of the UK Cancer Family Study Group in Manchester--21st May 1992. (1992) (4)
RESEARCH ETHICS. Ethics review for international data-intensive research (2016) (4)
DNA rearrangements in the alpha 5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: further refinement using pulsed-field gel electrophoresis. (1992) (4)
A Pst+ Polymorphism in the HEXA Gene with an Unusual Geographic Distribution (1993) (4)
Pathogenic and nonpathogenic deletions in two families with Duchenne muscular dystrophy. (1989) (4)
Physical mapping shows close linkage between the α-galactosidase A gene (GLA) and the DXS178 locus (1993) (4)
Chromosome banding in direct preparations of chorionic villi (1988) (4)
Two diseases (1989) (3)
An Improved Method for the Detection of Trisomy 21 in Uncultured Amniocytes by Fluorescence in Situ Hybridization a (1994) (3)
Steroid sulphatase levels in XX males, including observations on two affected cousins (1981) (3)
BETA-2-MICROGLOBULIN GENE IS ON CHROMOSOME-15 AND NOT IN HL-A REGION (1975) (3)
What is "data sharing" and why should biomedical researchers embrace it? (2015) (3)
Ethical Issues in Clinical Genetics (1991) (3)
Contributions to nephrology. Volume 80: Hereditary nephritis (1991) (3)
Further family data on ESD and chromosome 13. (1978) (3)
A giant short arm of no. 21 chromosome in mother of 21/21 translocation mongol. (1976) (3)
A preliminary analysis of the segregation of human hydroxyacyl coenzyme A dehydrogenase in human-mouse somatic cell hybrids. (1976) (3)
PRUFILE: a clinical and laboratory database for the genetics centre (1988) (3)
Analysis ofquantitative PCR forthediagnosis of deletion andduplication carriers inthe dystrophin gene (1992) (2)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (2)
Regional localisation of the human alpha-globin genes. (1981) (2)
Victor McKusick and his role in the founding of the European School of Genetic Medicine (2021) (2)
BSHG is born (1996) (2)
Abstracts of papers and posters presented at the third european meeting on psychosocial aspects of genetics (1993) (2)
Assignment of the genes for human mitochondrial malate dehydrogenase to chromosome 7, for mannose phosphate isomerase and pyruvate kinase to chromosome 15, and, probably, for human esterase-D to chromosome 13 using man-mouse hybrids. (1975) (2)
Confirmation of the assignment of the locus determining ADA to chromosome 20 in man: data on possible synteny of ADA and ITP in human-Chinese hamster somatic cell hybrids. (1976) (2)
The application of automated metaphase scanning to direct preparations of chorionic villi (1989) (2)
Techniques in Current Use in Prenatal Diagnosis (1994) (2)
Linkage relationships of the HL-A system and beta 2 microglobulin. (1975) (2)
The psychological consequences for parents of receiving false negative results on prenatal screening for Down syndrome (2000) (2)
Mitochondrial and cytoplasmic forms of fumarate hydratase assigned to chromosome. (1976) (1)
Women's concern study group- Raising concersn about family history of breast cancer in primary care consultations: prospective population study (2001) (1)
Providing information on Klinefelter syndrome (2003) (1)
Alignment of BrdU-substituted chromatids in satellite association in human metaphase cells (1986) (1)
Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer). (2005) (1)
New ways to look at X inactivation (1978) (1)
The social consequences of advances in the clinical applications of genetics. (1994) (1)
Genetic counselling: A tool for the prevention of some abnormal pregnancies (1976) (1)
The Implications of the Cloning of the XLA Gene (1993) (1)
Down's syndrome in families referred for advice. (2008) (1)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2019) (1)
DOMINO HEPATIC TRANSPLANTATION USING THE LIVER FROM A PATIENT WITH FAMILIAL AMYLOID POLYNEUROPATHY (REPLY) (1999) (1)
Proceedings of the Society for the Study of Human Biology (1974) (1)
Cystic fibrosis typing with DNA probes: experience of a screening laboratory (1988) (1)
THE SOUTH WALES NTD SCREENING EXPERIENCE (1983) (1)
A 11 Patent Number : 5 , 709 , 998 45 Date of Patent : Jan . 20 , 1998 Point Mutations in the dystrophin gene (2017) (0)
Dystrophin duplications: distribution, clinical significance, and somatic mosaicism. (2000) (0)
Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA. (1990) (0)
CYTOLOGICAL AND HISTOLOGICAL STUDY OF KERATINIZING LESIONS OF THE CERVIX. (1964) (0)
Evolutionary study of vertebrate and invertebrate members of the dystrophin and utrophin gene family (1994) (0)
Alpha-fetoprotein, acetylcholinesterase, and hydrocele. (1985) (0)
Human Chromosomes (1974) (0)
a with trisomy (0)
Information transfer in mammalian cells (1975) (0)
Clinical, cytogenetic, andmolecular analysis of three families withFRAXE (2011) (0)
A small deletion in the Duchenne/Becker muscular dystrophy locus —a functionally important region? (1987) (0)
Linkage relationships of the HL-A system and beta2 microglobulin. (1975) (0)
A Dictionary of Genetics (1998) (0)
Genetically modified crops : the ethical and social issues Summary (1999) (0)
Correlation ofclinical anddeletion datain Duchenne andBecker muscular dystrophy (1989) (0)
TheUseofQuinacrine Fluorescence inthe Identification ofBandEGroupChromosomes Involved inStructural Abnormalities (1971) (0)
Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer). (2005) (0)
Genetic prediction of common multifactorial diseases (2005) (0)
Duplication~deficiency product of a pericentric inversion in man: A cause of 191 trisomy (1973) (0)
Subject Index Vol. 16, 1976 (1976) (0)
FISHdetection oftrisomy 21ininterphase by thesimultaneous useoftwodifferentially labelled cosmid contigs (2011) (0)
carriers of cystic fibrosis . The impact of population based screening for (0)
UK 10 K Consortium (2019) (0)
Panel Discussion (1979) (0)
Genes, chromosomes and disease (2009) (0)
Chromosome 22 Monozygotic Twins with Ring (0)
Better quality data for Down's syndrome register. (1993) (0)
Surveys, Symposia, and Transactions (1968) (0)
Proceedings of the Seventh International Chromosome Conference held in Oxford, England, 26-31 August 1980 (1981) (0)
The application of molecular biology to the prenatal diagnosis of renal disease (1988) (0)
Becker muscular dystrophy . in families with Duchenne or analysis to genetic counselling The application of linkage (0)
lymphoproliferative disease . incontinentia pigmenti and X linked against lethal alleles : further investigation of X inactivation as a mechanism of selection (0)
Long-range mapping of the gene for the human alpha 5(IV) collagen chain at Xq22-q23. (1992) (0)
different artificial substrates . hexosaminidase assays with two analyser for automation of detection : use of a centrifugal Tay-Sachs disease heterozygote (0)
Studies on the morphology and mapping of human chromosomes. (1978) (0)
The Spatial Relationships of the Secondary Constriction Regions of the No. 9 Chromosomes in Human Interphase Nuclel (2008) (0)
Clinical Atlas of Human Chromosomes (1985) (0)
Genetic counselling: A tool for the prevention of some abnormal pregnancies (1976) (0)
Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial (2019) (0)
Chromosomes today. Volume 7. (1981) (0)
The gene for the species antigen on human chromosome 11 is on the short arm. (1976) (0)
Norm-making on human-animal chimeras and hybrids in Singapore, the United Kingdom and the international domain (2010) (0)
Jewish population . mutations in the UK Ashkenazi disease splice and insertion Frequency of the Tay-Sachs (0)
The Genetical Society of Great Britain Abstracts of Papers presented at the hundred and seventy-seventh meeting of the Society held on 25th and 26th March 1975 in the University of Keele. (1975) (0)
Conference King's Fund forum consensus statement: screening for fetal and genetic abnormality (2005) (0)
Debating the politics of genetics Anne Kerr Tom Shakespeare (2003) (0)
Sequence characterisation of deletion breakpoints in the dystrophin gene by PCR (1994) (0)
D N A deletions in mild and severe Becker muscular dystrophy (0)
Fertility inamalewithtrisomy 21 (1989) (0)
Duchenne muscular dystrophy . procedures for preimplantation diagnosis of Development and validation of laboratory (0)
Foreword (1999) (0)
Belated appreciations (1995) (0)
The inheritance of Alport's and related syndromes. (1990) (0)
Patenting DNA. (2002) (0)
The Treatment of Abortions. (1960) (0)
'The spouse as a kidney donor: ethically sound?'. (1999) (0)
Subject Index Vol. 4, 2001 (2002) (0)
Dermatoglyphs and chromosome mosaicism in parents of children with trisomy 18. (1980) (0)
of three families with FRAXE . Clinical , cytogenetic , and molecular analysis (0)
Ring chromosomes and DNA structure (1976) (0)
Development of a diagnostic service for neurofibromatosis type 1 facilitated by automated data analysis (2001) (0)
Genetic aspects of renal dysfunction: Alport's syndrome (1994) (0)
Eight cases of 7 p deletion : clinical features , cytogenetic findings , and molecular studies (2013) (0)
Subject Index Vol. 22, 1978 (1978) (0)
A preliminary analysis of the segregation of human hydroxyacyl coenzyme A dehydrogenase in human-mouse somatic cell hybrids. (1976) (0)
References to the committee reports (1975) (0)
The prevention and avoidance of genetic disease: summing up. (1988) (0)
Human Cytogenetics. Volume 1. General Cytogenetics. Volume 2. Clinical Cytogenetics. (1974) (0)
A novel NcoI polymorphism creates a fifth haplotype in the 3′ untranslated region of CKM (1992) (0)
Information transfer in mammalian cells (1975) (0)
Contents Vol. 4, 2001 (2002) (0)
Physical mapping shows close linkage between the alpha-galactosidase A gene (GLA) and the DXS178 locus. (1993) (0)
Seminar on Ethical Issues Arising From Molecular Studies in Human Genetic Disease, Held Under the Auspices of the UK Cancer Family Study Group in Manchester, Eng., 21 May 1992 -- Opening Remarks by the Chairman (1992) (0)
A decision tool to guide the ethics review of a challenging breed of emerging genomic projects (2016) (0)
Evaluation of mitochondrial function after cold preservation of pancreatic islet cells from donors treated with pefloxacin. (1997) (0)

This paper list is powered by the following services:

Other Resources About Martin Bobrow

en.wikipedia.org

What Schools Are Affiliated With Martin Bobrow?

Martin Bobrow is affiliated with the following schools:

Martin Bobrow's Academic­Influence.com Rankings