Published in Hum Genet on January 01, 1984
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet (2002) 1.71
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J Med Genet (1993) 1.37
A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. J Med Genet (1997) 1.25
Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome. Proc Natl Acad Sci U S A (1985) 1.22
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13. Proc Natl Acad Sci U S A (1987) 1.11
Expression of the 11p13 Wilms' tumor gene, WT1, correlates with histologic category of Wilms' tumor. Am J Pathol (1992) 0.98
A deletion map of the WAGR region on chromosome 11. Am J Hum Genet (1989) 0.89
Role for the Wilms tumor gene in genital development? Proc Natl Acad Sci U S A (1990) 0.88
Somatic cell hybrid and long-range physical mapping of 11p13 microdissected genomic clones. Proc Natl Acad Sci U S A (1990) 0.83
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet (1996) 3.51
Clinical features of 52 neonates with hyperinsulinism. N Engl J Med (1999) 3.35
Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.33
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell (1991) 3.19
Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature (1991) 2.87
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet (1994) 2.71
Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed (2000) 2.70
Leber congenital amaurosis. Mol Genet Metab (1999) 2.52
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. J Med Genet (2009) 2.37
Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet (1990) 2.26
The sensitive period for strabismic amblyopia in humans. Ophthalmology (1993) 2.22
Report of the committee on the genetic constitution of chromosome 11. Cytogenet Cell Genet (1989) 2.21
Child health, developmental plasticity, and epigenetic programming. Endocr Rev (2010) 2.15
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet (2001) 2.08
Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization. Am J Hum Genet (1982) 1.98
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet (1998) 1.97
Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet (1993) 1.86
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics (1992) 1.85
True hermaphroditism: genetic variants and clinical management. J Pediatr (1994) 1.84
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet (1993) 1.79
Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy. Circulation (1999) 1.78
Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci U S A (1982) 1.78
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum Mol Genet (1993) 1.75
UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat (2000) 1.74
Renal coloboma syndrome. Ophthalmology (2001) 1.74
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome. J Med Genet (2003) 1.68
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet (1995) 1.68
Beta amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome. Science (1987) 1.67
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet (1993) 1.64
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest (1997) 1.64
Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34. Hum Genet (1976) 1.63
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum Mol Genet (2000) 1.62
Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin). Ann Genet (1984) 1.62
Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol (2000) 1.61
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest (1998) 1.58
[Intercalary deletions of 9q]. Ann Genet (1978) 1.58
Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. Eur J Hum Genet (1993) 1.57
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet (2001) 1.55
Serial transabdominal amnioinfusion in the management of gastroschisis with severe oligohydramnios. J Pediatr Surg (1996) 1.54
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet (1998) 1.54
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics (2001) 1.53
Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19. Hum Genet (1985) 1.53
Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy. Lancet (1993) 1.52
[5-21-22 translocation and the crying cat syndrome]. Ann Genet (1965) 1.50
Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res (1998) 1.49
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. Nat Genet (1996) 1.49
Genetics of neonatal hyperinsulinism. Arch Dis Child Fetal Neonatal Ed (2000) 1.47
Correlation between decreased myocardial glucose phosphorylation and the DNA mutation size in myotonic dystrophy. Circulation (1994) 1.47
Homozygous deletion in the coding sequence of the c-mer gene in RCS rats unravels general mechanisms of physiological cell adhesion and apoptosis. Neurobiol Dis (2000) 1.47
Partial trisomy 9q: a new syndrome. Humangenetik (1975) 1.46
Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family. J Med Genet (1990) 1.45
Spectrum of retGC1 mutations in Leber's congenital amaurosis. Eur J Hum Genet (2000) 1.44
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. Hum Mol Genet (1995) 1.44
Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. Hum Genet (1984) 1.42
Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p. Hum Genet (1978) 1.40
[Conjoined omphalopagous twins separated at fifteen days of age]. Arch Pediatr (1995) 1.40
[2 familial translocations occurring together in each of 2 sisters, one balanced, the other partial trisomic 10q]. Ann Genet (1972) 1.38
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. Ann Genet (1980) 1.34
Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod (2001) 1.34
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. Hum Mutat (1999) 1.34
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. Am J Hum Genet (1999) 1.34
Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nat Genet (1997) 1.33
The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2. Am J Hum Genet (1984) 1.30
Defective satellite cells in congenital myotonic dystrophy. Hum Mol Genet (2001) 1.29
Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation. Nature (1975) 1.27
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. J Med Genet (2010) 1.27
[48, XXXX syndrome in a six year old child. Abnormal transmission of group Xg]. Ann Genet (1968) 1.26
Long-term results of trabeculectomy for congenital glaucoma. J Pediatr Ophthalmol Strabismus (1998) 1.24
Expression of myosin VIIA during mouse embryogenesis. Anat Embryol (Berl) (1997) 1.23
Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities. Hum Mol Genet (1998) 1.23
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation. Hum Mutat (2008) 1.21
[46, XX, 1q-, 2q-, Dq+, 16q+ karyotype in a polymalformed child]. Ann Genet (1968) 1.20
The structural gene for aldolase B (ALDB) maps to 9q13----32. Ann Hum Genet (1985) 1.19
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet (1996) 1.19
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. Am J Hum Genet (1999) 1.18
Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. Hum Mol Genet (1993) 1.18
[Study by fluorescence of a trisomy C mosaic, probably 8: 46,XY-47,XY,?8+]. Ann Genet (1971) 1.18
Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers. Hum Genet (1977) 1.17
Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females. J Med Genet (1992) 1.16
Candidate genetic modifiers of individual susceptibility to renal cell carcinoma: a study of polymorphic human xenobiotic-metabolizing enzymes. Cancer Res (1999) 1.16