Published in J Pediatr on January 01, 1986
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Ectodermal dysplasia. Arch Dis Child (1994) 0.99
Congenital hypothyroidism, spiky hair, and cleft palate. J Med Genet (1989) 0.90
Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome? J Med Genet (1998) 0.75
NF-κB Essential Modulator (NEMO) Is Critical for Thyroid Function. J Biol Chem (2016) 0.75
A computerised data base for the diagnosis of rare dysmorphic syndromes. J Med Genet (1984) 8.10
Efficacy of traditional Chinese herbal therapy in adult atopic dermatitis. Lancet (1992) 4.75
A double-blind controlled crossover trial of an antigen-avoidance diet in atopic eczema. Lancet (1978) 4.63
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet (2001) 2.95
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
Spontaneous remission of multi-system histiocytosis X. Lancet (1984) 2.29
A controlled trial of traditional Chinese medicinal plants in widespread non-exudative atopic eczema. Br J Dermatol (1992) 2.20
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) J Med Genet (1988) 2.10
Malformation syndromes--a diagnostic approach. Arch Dis Child (1984) 2.06
Milk antigen absorption in the preterm and term neonate. Arch Dis Child (1982) 2.02
Lack of effect of intravenous administration on time to respond to azathioprine for steroid-treated Crohn's disease. North American Azathioprine Study Group. Gastroenterology (1999) 1.84
Gastrointestinal symptoms in patients with asthma. Arch Dis Child (2000) 1.82
A step in the right direction: assessing exercise tolerance in cystic fibrosis. Pediatr Pulmonol (1998) 1.77
An extended family with a dominantly inherited speech disorder. Dev Med Child Neurol (1990) 1.77
Symptomatic zinc deficiency in a breast-fed preterm infant. Arch Dis Child (1980) 1.74
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
Hypomelanosis of Ito: spectrum of the disease. J Pediatr (1989) 1.59
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
Hemorrhagic shock and encephalopathy: clinical, pathologic, and biochemical features. J Pediatr (1989) 1.50
Reduced upper airway nitric oxide in cystic fibrosis. Arch Dis Child (1996) 1.50
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
Recognition and early management of Reye's syndrome. Arch Dis Child (1986) 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
Haemorrhagic shock and encephalopathy: a new syndrome with a high mortality in young children. Lancet (1983) 1.46
Intravenous azathioprine in severe ulcerative colitis: a pilot study. Am J Gastroenterol (2000) 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
Growth and lung function in Asian patients with cystic fibrosis. Arch Dis Child (2005) 1.43
A ten year review of colomycin. Respir Med (2000) 1.40
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
Inhibition of interleukin-1-stimulated NF-kappaB RelA/p65 phosphorylation by mesalamine is accompanied by decreased transcriptional activity. J Biol Chem (1999) 1.38
Monitoring in non-traumatic coma. Part I: Invasive intracranial measurements. Arch Dis Child (1988) 1.37
The 3-M syndrome. J Med Genet (1984) 1.37
Greig cephalopolysyndactyly: report of 13 affected individuals in three families. Clin Genet (1983) 1.33
Growth in atopic eczema: a controlled study by questionnaire. Arch Dis Child (1989) 1.32
Multiple pterygium syndrome: evolution of the phenotype. J Med Genet (1987) 1.32
Detection of specific antigen within circulating immune complexes: validation of the assay and its application to food antigen-antibody complexes formed in healthy and food-allergic subjects. Clin Exp Immunol (1981) 1.27
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
Testing carrier status in siblings of patients with cystic fibrosis. Arch Dis Child (1995) 1.23
A Noonan-like short stature syndrome with sparse hair. J Med Genet (1986) 1.22
Disordered breathing during sleep in patients with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol (2001) 1.21
Temporary inhibition of growth and adrenal suppression associated with the use of steroid nose drops. Eur J Pediatr (1994) 1.21
Survival rates in cystic fibrosis. Arch Dis Child (1983) 1.20
The clinical spectrum of the Fraser syndrome: report of three new cases and review. J Med Genet (1987) 1.20
Increased intestinal permeability in atopic eczema. J Invest Dermatol (1986) 1.19
Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice. Br J Dermatol (2008) 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
An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol (1993) 1.14
Infantile systemic hyalinosis: newly recognized disorder of collagen? Pediatrics (1991) 1.14
Orofaciodigital syndrome with mesomelic limb shortening. J Med Genet (1984) 1.14
Nasopharyngeal airways in Pierre Robin Syndrome. J Pediatr (1982) 1.12
Trigonocephaly and the Opitz C syndrome. J Med Genet (1985) 1.12
Relationship of intraesophageal pressure to intrapleural pressure in the newborn. J Appl Physiol (1972) 1.12
Measurement of thiopurine methyltransferase activity and azathioprine metabolites in patients with inflammatory bowel disease. Gut (2001) 1.12
A gene affecting Wallerian nerve degeneration maps distally on mouse chromosome 4. Proc Natl Acad Sci U S A (1993) 1.12
Quality of survival after artificial ventilation of the newborn. Arch Dis Child (1974) 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
Fracture prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol (2002) 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
Surveillance for skeletal toxicity of children treated with etretinate. Br J Dermatol (1987) 1.07
Reduced penetrance in tuberous sclerosis. J Med Genet (1985) 1.07
A defect in zinc uptake by jejunal biopsies in acrodermatitis enteropathica. Clin Sci (Lond) (1979) 1.06
A new alopecia/mental retardation syndrome. J Med Genet (1983) 1.05
Central nervous system imaging and congenital melanocytic naevi. Arch Dis Child (2001) 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
Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). Br J Dermatol (1982) 1.03
One-year follow up of children treated with Chinese medicinal herbs for atopic eczema. Br J Dermatol (1994) 1.03
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
Dornase alfa for cystic fibrosis. Patients should not be denied a safe, effective treatment. BMJ (1995) 1.02
A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome. Br J Dermatol (1980) 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
Great Ormond Street Hospital for Children Registry for congenital melanocytic naevi: prospective study 1988-2007. Part 1-epidemiology, phenotype and outcomes. Br J Dermatol (2008) 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
Eczema herpeticum. Practitioner (1982) 1.00
Gastrointestinal symptoms in atopic eczema. Arch Dis Child (1998) 1.00
The FG syndrome: 7 new cases. Clin Genet (1985) 0.99
Genetic and clinical heterogeneity of Stickler syndrome. Am J Med Genet (1991) 0.99