Published in Neuroradiology on January 01, 1991
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Unstable DNA sequence in myotonic dystrophy. Lancet (1992) 2.36
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet (1998) 2.14
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Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet (1999) 1.98
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IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet (1997) 1.72
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet (1999) 1.67
Hearing screening in infancy. Arch Dis Child (1986) 1.64
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet (1999) 1.62
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The mutational spectrum in Waardenburg syndrome. Hum Mol Genet (1995) 1.55
Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg (1993) 1.54
Pregnancy and perinatal outcomes after assisted reproduction: a comparative study. Ir J Med Sci (2008) 1.52
Radiological malformations of the ear in Pendred syndrome. Clin Radiol (1998) 1.52
Dominantly inherited cleft lip and palate in two families. J Med Genet (1989) 1.49
Lumpers, splitters, and FGFRs. Am J Med Genet (1996) 1.49
Assisted reproductive therapies and imprinting disorders--a preliminary British survey. Hum Reprod (2005) 1.48
Congenital cutis laxa with retardation of growth and development. J Med Genet (1987) 1.45
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Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet (2000) 1.40
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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet (2005) 1.26
Mitochondrial 16189 variant, thinness at birth, and type-2 diabetes. ALSPAC study team. Avon Longitudinal Study of Pregnancy and Childhood. Lancet (1999) 1.24
Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet (1995) 1.23
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am J Hum Genet (2000) 1.23
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet (1996) 1.22
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet (2000) 1.20
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet (2008) 1.20
Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome. Cytogenet Genome Res (2002) 1.17
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. Am J Hum Genet (1998) 1.17
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J Med Genet (2001) 1.15
Disruption of the bipartite imprinting center in a family with Angelman syndrome. Am J Hum Genet (2001) 1.14
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Ototoxicity of high-dose cis-platinum in children. Med Pediatr Oncol (1988) 1.09
Oculo-facio-cardio-dental syndrome in a mother and daughter. Int J Oral Maxillofac Surg (2006) 1.08
Optic disc anomalies and frontonasal dysplasia. Br J Ophthalmol (1998) 1.07
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet (1999) 1.07
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet (2005) 1.06
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. J Med Genet (1999) 1.06
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. J Med Genet (2005) 1.04
Three new European cases of urofacial (Ochoa) syndrome. Clin Dysmorphol (2001) 1.03
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. Hum Mol Genet (1997) 1.03
Fibroblast growth factor receptor-2 mutations in craniosynostosis. Ann N Y Acad Sci (1996) 1.03
Mapping of DFN2 to Xq22. Hum Mol Genet (1996) 1.03
A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity. Genomics (1991) 1.02
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. J Med Genet (2011) 1.00
Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene. Arch Dis Child (1983) 0.98
Mannose-binding lectin alleles in a prospectively recruited UK population. The ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and Childhood. Lancet (1997) 0.95
The genetics of deafness. Arch Dis Child (1990) 0.95
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet (1995) 0.95
Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis. Am J Ophthalmol (1989) 0.95
Ototoxicity of cisplatinum. Br J Cancer (1991) 0.95
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Clinical and molecular findings in IPEX syndrome. Arch Dis Child (2006) 0.94
Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis. J Thromb Haemost (2008) 0.93
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. J Med Genet (2004) 0.92
Outcome of preterm infants who suffered neonatal apnoeic attacks. Early Hum Dev (1988) 0.91
Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb. Hum Mol Genet (1994) 0.90
Elastin mutation and cardiac disease. Pediatr Cardiol (1999) 0.90
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Oculo-ectodermal syndrome: report of two further cases. Am J Med Genet (2000) 0.89
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? Am J Med Genet (2000) 0.89
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. Am J Hum Genet (1994) 0.89
Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. Hum Mol Genet (1994) 0.89
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. Eur J Hum Genet (1996) 0.88
Femoral hypoplasia unusual facies syndrome with preaxial polydactyly. Clin Dysmorphol (1994) 0.88
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. J Med Genet (1995) 0.87
A gene for FG syndrome maps in the Xq12-q21.31 region. Am J Med Genet (1997) 0.87
Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. J Med Genet (2004) 0.86
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A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia. J Med Genet (1999) 0.86
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families. Eur J Pediatr (1999) 0.86
Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18. Eur J Med Genet (2005) 0.85
Seckel syndrome: an overdiagnosed syndrome. J Med Genet (1985) 0.85
Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. Am J Med Genet (1995) 0.85
An investigation of FRAXA intermediate allele phenotype in a longitudinal sample. Ann Hum Genet (2006) 0.85
Phenotypic variation in LADD syndrome. J Med Genet (1985) 0.85
The significance of choroid plexus cysts in an unselected population: results of a multicenter study. Ultrasound Obstet Gynecol (1998) 0.85
Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome. Clin Endocrinol (Oxf) (1996) 0.84