The FG syndrome: 7 new cases.

A missense mutation in CASK causes FG syndrome in an Italian family. Am J Hum Genet (2009) 1.12

Associations of anorectal malformations and related syndromes. Pediatr Surg Int (2013) 0.93

FG syndrome. J Med Genet (1987) 0.90

Necropsy findings in a child with FG syndrome. J Med Genet (1986) 0.83

Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies. Nat Genet (1998) 8.20

A computerised data base for the diagnosis of rare dysmorphic syndromes. J Med Genet (1984) 8.10

Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation. Lancet (1991) 4.48

PCR for capsular typing of Haemophilus influenzae. J Clin Microbiol (1994) 4.08

Global genetic structure and molecular epidemiology of encapsulated Haemophilus influenzae. Rev Infect Dis (1990) 4.06

Maternal serum alpha-fetoprotein measurement: a screening test for Down syndrome. Lancet (1984) 3.91

Clonal population structure of encapsulated Haemophilus influenzae. Infect Immun (1988) 3.03

Joubert syndrome: a review. Am J Med Genet (1992) 2.83

HIV-specific cytotoxic T-cell activity in an HIV-exposed but uninfected infant. Lancet (1993) 2.71

Evolutionary genetics of the encapsulated strains of Haemophilus influenzae. Proc Natl Acad Sci U S A (1988) 2.68

Differential H4 acetylation of paternal and maternal chromatin precedes DNA replication and differential transcriptional activity in pronuclei of 1-cell mouse embryos. Development (1997) 2.63

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet (1979) 2.57

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet (1995) 2.49

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Lancet (1989) 2.28

Bacterial copper- and zinc-cofactored superoxide dismutase contributes to the pathogenesis of systemic salmonellosis. Mol Microbiol (1997) 2.23

The role of bacterial polysaccharide capsules as virulence factors. Curr Top Microbiol Immunol (1990) 2.18

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) J Med Genet (1988) 2.10

Malformation syndromes--a diagnostic approach. Arch Dis Child (1984) 2.06

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. Am J Hum Genet (1990) 1.87

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring. J Med Genet (1975) 1.81

Tuberous sclerosis: a new estimate of prevalence within the Oxford region. J Med Genet (1984) 1.81

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet (1999) 1.80

An extended family with a dominantly inherited speech disorder. Dev Med Child Neurol (1990) 1.77

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. Am J Hum Genet (1990) 1.76

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet (1994) 1.72

Periplasmic superoxide dismutase in meningococcal pathogenicity. Infect Immun (1998) 1.69

Miniature genome in the marine chordate Oikopleura dioica. Science (2001) 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

Region II of the Haemophilus influenzae type be capsulation locus is involved in serotype-specific polysaccharide synthesis. Mol Microbiol (1995) 1.52

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

Atypical facio-scapulo-humeral muscular dystrophy--a counselling dilemma. Clin Genet (1991) 1.48

Kyphomelic dysplasia. J Med Genet (1989) 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

The inadequacy of axillary sampling in breast cancer. Lancet (1982) 1.43

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 molecular basis of pathogenicity in Haemophilus influenzae: comparative virulence of genetically-related capsular transformants and correlation with changes at the capsulation locus cap. Microb Pathog (1989) 1.38

Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet (1987) 1.38

The 3-M syndrome. J Med Genet (1984) 1.37

Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. Am J Med Genet (1992) 1.36

Local adaptation for body color in Drosophila americana. Heredity (Edinb) (2010) 1.33

Greig cephalopolysyndactyly: report of 13 affected individuals in three families. Clin Genet (1983) 1.33

Expression of the HSP 70.1 gene, a landmark of early zygotic activity in the mouse embryo, is restricted to the first burst of transcription. Development (1995) 1.33

Multiple pterygium syndrome: evolution of the phenotype. J Med Genet (1987) 1.32

Cancer in Crohn's disease--an 'occult' malignancy. Histopathology (1983) 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

Chronic enteroviral meningoencephalitis in agammaglobulinemia: case report and literature review. J Clin Immunol (1992) 1.26

Copper-zinc superoxide dismutase in Haemophilus species. J Gen Microbiol (1992) 1.25

Multiple lupus susceptibility loci map to chromosome 1 in BXSB mice. J Immunol (1998) 1.25

A Noonan-like short stature syndrome with sparse hair. J Med Genet (1986) 1.22

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. Am J Hum Genet (2001) 1.20

The clinical spectrum of the Fraser syndrome: report of three new cases and review. J Med Genet (1987) 1.20

Benign (non-paroxysmal) familial chorea. Paediatric perspectives. Arch Dis Child (1981) 1.20

DsbA: a protein-folding catalyst contributing to bacterial virulence. Microbes Infect (1999) 1.19

Two cases of endocardial fibroelastosis--possible x-linked determination. Br Heart J (1973) 1.19

Osteogenesis imperfecta type IIA: evidence for dominant inheritance. J Med Genet (1987) 1.19

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

Identification of sodC encoding periplasmic [Cu,Zn]-superoxide dismutase in Salmonella. FEMS Microbiol Lett (1996) 1.15

An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol (1993) 1.14

Development of scarring and renal failure in a rat model of crescentic glomerulonephritis. Nephrol Dial Transplant (1999) 1.14

Orofaciodigital syndrome with mesomelic limb shortening. J Med Genet (1984) 1.14

Fc gamma RIIa polymorphism in systemic lupus erythematosus (SLE): no association with disease. Clin Exp Immunol (1996) 1.13

A distinctive type of hypohidrotic ectodermal dysplasia featuring hypothyroidism. J Pediatr (1986) 1.13

Molecular patterning of the oikoplastic epithelium of the larvacean tunicate Oikopleura dioica. J Biol Chem (2001) 1.13

Differential preimplantation regulation of two mouse homologues of the yeast SWI2 protein. Dev Dyn (1998) 1.12

Trigonocephaly and the Opitz C syndrome. J Med Genet (1985) 1.12

The origins of marine bioluminescence: turning oxygen defence mechanisms into deep-sea communication tools. J Exp Biol (1998) 1.11

Cutis laxa and the Costello syndrome. J Med Genet (1993) 1.11

UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders. J Med Genet (1992) 1.11

Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases. Am J Hum Genet (1991) 1.10

Prevalence of Actinobacillus pleuropneumoniae serovars in England and Wales. Vet Rec (2010) 1.10

Multiplex PCR that can distinguish between immunologically cross- reactive serovar 3, 6, and 8 Actinobacillus pleuropneumoniae strains. J Clin Microbiol (2007) 1.09

Cloning and molecular characterization of Cu,Zn superoxide dismutase from Actinobacillus pleuropneumoniae. Infect Immun (1996) 1.09

Coffin-Siris syndrome. J Med Genet (1991) 1.09

Quantitation in inflammatory bowel disease using computerised interactive image analysis. J Clin Pathol (1985) 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

Humoral immune responses to Neisseria meningitidis in children. Infect Immun (1999) 1.08

Marshall/Stickler syndrome. J Med Genet (1982) 1.08

Mutations affecting expression and maintenance of genes encoding the serotype b capsule of Haemophilus influenzae. J Bacteriol (1986) 1.07

Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. Am J Med Genet (1988) 1.07

Reduced penetrance in tuberous sclerosis. J Med Genet (1985) 1.07

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet A (2004) 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

Role of bacterial Mn-cofactored superoxide dismutase in oxidative stress responses, nasopharyngeal colonization, and sustained bacteremia caused by Haemophilus influenzae type b. Infect Immun (1997) 1.04

Paracentric inversions in man. J Med Genet (1984) 1.04

The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity. Am J Med Genet (1983) 1.04