Published in J Med Genet on September 01, 1987
Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet (2009) 1.73
Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity. Placenta (2009) 1.10
Costello syndrome: natural history and differential diagnosis of cutis laxa. J Med Genet (1994) 0.93
Is geroderma osteodysplastica underdiagnosed? J Med Genet (1988) 0.83
Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease. Ageing Res Rev (2016) 0.80
Cutis laxa: a feature of Costello syndrome. J Med Genet (1994) 0.78
Radiologic findings in cutis laxa syndrome and unusual association with hypertrophic pyloric stenosis. Iran J Radiol (2013) 0.76
Sotos syndrome and cutis laxa. J Med Genet (1999) 0.76
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? Indian Dermatol Online J (2016) 0.75
Chromosomal localization of the human elastin gene. Am J Hum Genet (1985) 1.68
X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. N Engl J Med (1980) 1.62
The dominant and recessive forms of cutis laxa. J Med Genet (1972) 1.48
Cutis laxa. A manifestation of generalized elastolysis. Arch Dermatol (1965) 1.28
Two forms of cutis laxa presenting in the newborn period. Acta Paediatr Scand (1978) 1.20
Cutis laxa. Ultrastructural and biochemical studies. Arch Dermatol (1975) 1.14
Congenital cutis laxa and osteoporosis. Am J Dis Child (1983) 1.02
Plastic surgery in cutis laxa. Br J Plast Surg (1970) 0.97
Cutis laxa, intrauterine growth retardation, and bilateral dislocation of the hips: a report of five cases. Prog Clin Biol Res (1982) 0.88
Cutis laxa, skeletal anomalies, and ambiguous genitalia. Am J Dis Child (1974) 0.87
ALSPAC--the Avon Longitudinal Study of Parents and Children. I. Study methodology. Paediatr Perinat Epidemiol (2001) 14.31
A computerised data base for the diagnosis of rare dysmorphic syndromes. J Med Genet (1984) 8.10
Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet (1998) 3.03
Joubert syndrome: a review. Am J Med Genet (1992) 2.83
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
Chromosome 22q11 microdeletions in tetralogy of Fallot. Arch Dis Child (1996) 2.00
A new human genetic resource: a DNA bank established as part of the Avon longitudinal study of pregnancy and childhood (ALSPAC). Eur J Hum Genet (2000) 1.92
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain (1999) 1.84
An extended family with a dominantly inherited speech disorder. Dev Med Child Neurol (1990) 1.77
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
Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet (1994) 1.72
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
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood (2000) 1.54
The femoral hypoplasia-unusual facies syndrome. J Med Genet (1984) 1.52
Genetics of Möbius syndrome. J Med Genet (1977) 1.51
Dominantly inherited cleft lip and palate in two families. J Med Genet (1989) 1.49
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
Atypical facio-scapulo-humeral muscular dystrophy--a counselling dilemma. Clin Genet (1991) 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
X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology (1991) 1.46
The Angelman (Happy Puppet) syndrome: is it autosomal recessive? Clin 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
Variable transfer of Y-specific sequences in XX males. Nucleic Acids Res (1986) 1.40
Molecular genetic analysis of the 3p- syndrome. Hum Mol Genet (1994) 1.40
Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene. Clin Genet (1986) 1.40
The 3-M syndrome. J Med Genet (1984) 1.37
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med 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
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. J Biol Chem (1999) 1.28
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
Mitochondrial 16189 variant, thinness at birth, and type-2 diabetes. ALSPAC study team. Avon Longitudinal Study of Pregnancy and Childhood. Lancet (1999) 1.24
Investigation of global developmental delay. Arch Dis Child (2006) 1.23
Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet (1995) 1.23
A Noonan-like short stature syndrome with sparse hair. J Med Genet (1986) 1.22
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
The clinical spectrum of the Fraser syndrome: report of three new cases and review. J Med Genet (1987) 1.20
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
An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol (1993) 1.14
Disruption of the bipartite imprinting center in a family with Angelman syndrome. Am J Hum Genet (2001) 1.14
Orofaciodigital syndrome with mesomelic limb shortening. J Med Genet (1984) 1.14
Genetic prediction in X-linked agammaglobulinaemia. Am J Med Genet (1988) 1.14
A distinctive type of hypohidrotic ectodermal dysplasia featuring hypothyroidism. J Pediatr (1986) 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
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
Marshall/Stickler syndrome. J Med Genet (1982) 1.08
The phenotype of survivors of campomelic dysplasia. J Med Genet (2002) 1.08
Reduced penetrance in tuberous sclerosis. J Med Genet (1985) 1.07
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
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet (2000) 1.01
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet (1998) 1.00
Cerebral arteriovenous malformation in Noonan's syndrome. Postgrad Med J (1992) 1.00
An avoidable recurrence of cri du chat syndrome in the next generation. Br Med J (Clin Res Ed) (1983) 1.00
Severe Silver-Russell syndrome. J Med Genet (1989) 0.99
Moore-Federman syndrome and acromicric dysplasia: are they the same entity? J Med Genet (1989) 0.99
Genetic and clinical heterogeneity of Stickler syndrome. Am J Med Genet (1991) 0.99
The FG syndrome: 7 new cases. Clin Genet (1985) 0.99
A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin Genet (1986) 0.99
Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene. Arch Dis Child (1983) 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
Alexander's disease: clues to diagnosis. J Child Neurol (1993) 0.96
The orofaciodigital (OFD) syndromes. J Med Genet (1986) 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
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 Holt-Oram syndrome. J Med Genet (1991) 0.95
The genetics of deafness. Arch Dis Child (1990) 0.95
Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis. Am J Ophthalmol (1989) 0.95
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet (1995) 0.95
Sorsby syndrome: a report on further generations of the original family. J Med Genet (1988) 0.95
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Hum Genet (2013) 0.94
Microcephaly and intracranial calcification in two brothers. J Med Genet (1983) 0.93
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. Clin Genet (2011) 0.93
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
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
Johanson-Blizzard syndrome. J Med Genet (1989) 0.92