Published in Clin Genet on March 01, 1991
Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35. Am J Hum Genet (1992) 0.91
De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy. Clin Genet (1993) 0.77
De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). Arch Dis Child (1994) 0.76
A computerised data base for the diagnosis of rare dysmorphic syndromes. J Med Genet (1984) 8.10
Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet (1994) 3.04
Joubert syndrome: a review. Am J Med Genet (1992) 2.83
Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study. J Pediatr (1996) 2.50
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet (1995) 2.49
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) J Med Genet (1988) 2.10
Malformation syndromes--a diagnostic approach. Arch Dis Child (1984) 2.06
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet (2005) 1.94
An extended family with a dominantly inherited speech disorder. Dev Med Child Neurol (1990) 1.77
An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet (2000) 1.73
Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet (1994) 1.72
Aetiopathology and genetic basis of neonatal diabetes. Arch Dis Child Fetal Neonatal Ed (1997) 1.67
An imprinted gene(s) for diabetes? Nat Genet (1995) 1.65
A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity? J Med Genet (1983) 1.63
Intrafamilial correlation in Friedreich's ataxia. Clin Genet (1981) 1.62
De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. J Med Genet (1990) 1.55
The femoral hypoplasia-unusual facies syndrome. J Med Genet (1984) 1.52
Genetics of Möbius syndrome. J Med Genet (1977) 1.51
Severe microcephaly associated with congenital varicella infection. Dev Med Child Neurol (1991) 1.49
Partial trisomy 3q causing mild Cornelia de Lange phenotype. J Med Genet (1994) 1.49
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia (2013) 1.48
Proteus syndrome: an expanded phenotype. Am J Med Genet (1987) 1.47
A reappraisal of the CHARGE association. J Med Genet (1988) 1.46
The Angelman (Happy Puppet) syndrome: is it autosomal recessive? Clin Genet (1987) 1.45
Congenital cutis laxa with retardation of growth and development. J Med Genet (1987) 1.45
Parietal foramina in Saethre-Chotzen syndrome. J Med Genet (1984) 1.40
Two siblings with mental retardation and progressive spasticity. Clin Genet (1993) 1.40
The 3-M syndrome. J Med Genet (1984) 1.37
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet (2006) 1.35
Greig cephalopolysyndactyly: report of 13 affected individuals in three families. Clin Genet (1983) 1.33
Multiple pterygium syndrome: evolution of the phenotype. J Med Genet (1987) 1.32
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. J Med Genet (2005) 1.30
Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears. Am J Med Genet (1988) 1.27
The London Dysmorphology Database. J Med Genet (1987) 1.26
Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet (2010) 1.24
A Noonan-like short stature syndrome with sparse hair. J Med Genet (1986) 1.22
Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet (1997) 1.21
The clinical spectrum of the Fraser syndrome: report of three new cases and review. J Med Genet (1987) 1.20
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. J Med Genet (1997) 1.18
The 'happy puppet' syndrome of Angelman: review of the clinical features. Arch Dis Child (1989) 1.18
X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry (1982) 1.17
Joubert-Boltshauser syndrome with polydactyly in siblings. J Neurol Neurosurg Psychiatry (1982) 1.16
Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum Genet (1999) 1.16
Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports. J Med Genet (1998) 1.16
An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol (1993) 1.14
Orofaciodigital syndrome with mesomelic limb shortening. J Med Genet (1984) 1.14
A distinctive type of hypohidrotic ectodermal dysplasia featuring hypothyroidism. J Pediatr (1986) 1.13
Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q. J Med Genet (1999) 1.13
Dopa-responsive dystonia: [18F]dopa positron emission tomography. Ann Neurol (1991) 1.13
Trigonocephaly and the Opitz C syndrome. J Med Genet (1985) 1.12
Cutis laxa and the Costello syndrome. J Med Genet (1993) 1.11
Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases. Am J Hum Genet (1991) 1.10
Coffin-Siris syndrome. J Med Genet (1991) 1.09
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenet Genome Res (2009) 1.09
The incidence and nature of visual pathway involvement in Friedreich's ataxia. A clinical and visual evoked potential study of 22 patients. Brain (1980) 1.08
The use of a computerised database for the diagnosis of a rare neurological syndrome. Neuropediatrics (1987) 1.08
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet (2007) 1.08
Marshall/Stickler syndrome. J Med Genet (1982) 1.08
Reduced penetrance in tuberous sclerosis. J Med Genet (1985) 1.07
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet (2005) 1.06
A new alopecia/mental retardation syndrome. J Med Genet (1983) 1.05
Focal dermal hypoplasia (Goltz syndrome). J Med Genet (1990) 1.05
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity. Am J Med Genet (1983) 1.04
Peripheral and central somatosensory nerve conduction defects in Friedreich's ataxia. J Neurol Neurosurg Psychiatry (1980) 1.03
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies. J Med Genet (1989) 1.02
Pitfalls of genetic counselling in Pfeiffer's syndrome. J Med Genet (1980) 1.01
Biochemical and clinical studies of Friedreich's ataxia. J Neurol Neurosurg Psychiatry (1981) 1.01
An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission. Arch Dis Child Fetal Neonatal Ed (2004) 1.01
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet (2000) 1.01
An avoidable recurrence of cri du chat syndrome in the next generation. Br Med J (Clin Res Ed) (1983) 1.00
Cerebral arteriovenous malformation in Noonan's syndrome. Postgrad Med J (1992) 1.00
Genetic and clinical heterogeneity of Stickler syndrome. Am J Med Genet (1991) 0.99
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet (2006) 0.99
The FG syndrome: 7 new cases. Clin Genet (1985) 0.99
Moore-Federman syndrome and acromicric dysplasia: are they the same entity? J Med Genet (1989) 0.99
Severe Silver-Russell syndrome. J Med Genet (1989) 0.99
A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin Genet (1986) 0.99
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. Hum Genet (2002) 0.99
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. Am J Med Genet A (2010) 0.98
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet (2009) 0.98
The clinical features of the Cohen syndrome: further case reports. J Med Genet (1985) 0.97
Lenz microphthalmia--a case report. Clin Genet (1982) 0.97
Angelman's syndrome. J Med Genet (1990) 0.97
Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome). J Med Genet (1986) 0.97
Should doctors be budget holders? Br Med J (Clin Res Ed) (1981) 0.97
A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Hum Mutat (2001) 0.97
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. Am J Hum Genet (1999) 0.97
Alexander's disease: clues to diagnosis. J Child Neurol (1993) 0.96
The orofaciodigital (OFD) syndromes. J Med Genet (1986) 0.96
Familial British dementia with amyloid angiopathy: early clinical, neuropsychological and imaging findings. Brain (2000) 0.96
Microtia and short stature: a new syndrome. J Med Genet (1991) 0.96
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. J Med Genet (2005) 0.96
Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'. J Med Genet (1991) 0.95
The Holt-Oram syndrome. J Med Genet (1991) 0.95
Sorsby syndrome: a report on further generations of the original family. J Med Genet (1988) 0.95
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. J Med Genet (2003) 0.94
Microcephaly and intracranial calcification in two brothers. J Med Genet (1983) 0.93
A new X-linked mental retardation syndrome. Am J Med Genet (1987) 0.93
Median clefting of the upper lip associated with cutaneous polyps. J Med Genet (1990) 0.93