Published in J Med Genet on September 01, 1993
Face facts: genes, environment, and clefts. Am J Hum Genet (1995) 1.52
Current concepts in genetics of nonsyndromic clefts. Indian J Plast Surg (2009) 0.98
Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4. Am J Hum Genet (1995) 0.90
Microsatellite-based fine mapping of the Van der Woude syndrome locus to an interval of 4.1 cM between D1S245 and D1S414. Am J Hum Genet (1995) 0.87
Exclusion of retinoic acid receptor and a cartilage matrix protein in non-syndromic CL(P) families. J Med Genet (1995) 0.83
Genetics of cleft lip and palate : a review. Malays J Med Sci (2007) 0.82
Interpreting the evidence for an association between the retinoic acid receptor locus and non-syndromic cleft lip with or without cleft palate. J Med Genet (1994) 0.79
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1. Am J Hum Genet (2007) 0.78
Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate. Front Genet (2016) 0.75
Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet (1989) 4.13
Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet (1987) 3.14
Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. Am J Hum Genet (1986) 2.23
Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. Am J Hum Genet (1992) 2.12
Complex segregation analysis of nonsyndromic cleft lip and palate. Am J Hum Genet (1991) 2.01
Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate. Am J Hum Genet (1991) 1.98
Cleft lip and palate: no evidence of linkage to transforming growth factor alpha. Am J Hum Genet (1991) 1.94
Complete amino acid sequence of human cartilage link protein (CRTL1) deduced from cDNA clones and chromosomal assignment of the gene. Genomics (1990) 1.85
Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: a reanalysis. Am J Hum Genet (1992) 1.66
Familial recurrence-pattern analysis of cleft lip with or without cleft palate. Am J Hum Genet (1992) 1.64
Dominantly inherited cleft lip and palate in two families. J Med Genet (1989) 1.49
Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq. Am J Hum Genet (1990) 1.48
Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1). Nucleic Acids Res (1991) 1.46
Palate development: mechanisms and malformations. Ir J Med Sci (1987) 1.43
The Van der Woude syndrome (dominantly inherited lip pits and clefts). J Med Genet (1986) 1.40
Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate. J Med Genet (1992) 1.28
Nucleotide sequence of the human vimentin gene and regulation of its transcription in tissues and cultured cells. Gene (1988) 1.24
Dominantly inherited cleft lip and palate. J Med Genet (1990) 1.16
Cleft lip with or without cleft palate: reanalysis of a three-generation family study from England. Genet Epidemiol (1986) 1.15
No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate. J Med Genet (1992) 1.12
Resolving an apparent paradox concerning the role of TGFA in CL/P. Am J Hum Genet (1993) 1.00
A detailed multipoint gene map of chromosome 1q. Genomics (1990) 1.00
Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3. Clin Dysmorphol (1992) 0.98
Terminal deletion 6p23: a case report. Am J Med Genet (1990) 0.98
Segregation of HLA in sibs with cleft lip or cleft lip and palate: evidence against genetic linkage. Cleft Palate J (1980) 0.87
Isolation and mapping of a polymorphic DNA sequence pEKH7.4 to chromosome 1 (D1S65). Nucleic Acids Res (1987) 0.84
Isolation and mapping of a polymorphic DNA sequence pYNZ23 to chromosome 1 (DIS58). Nucleic Acids Res (1987) 0.84
Van der Woude syndrome and nonsyndromic cleft lip and palate. Am J Hum Genet (1992) 0.83
Apparently balanced chromosome translocations and midline defects. Am J Med Genet (1989) 0.80
BclI RFLP for the human vimentin gene. Nucleic Acids Res (1988) 0.79
A computerised data base for the diagnosis of rare dysmorphic syndromes. J Med Genet (1984) 8.10
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature (1993) 4.39
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet (1995) 4.25
Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet (1999) 4.20
Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11. Diabetologia (1985) 3.65
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet (2001) 3.28
Localization of human immunoglobulin kappa light chain variable region genes to the short arm of chromosome 2 by in situ hybridization. Proc Natl Acad Sci U S A (1982) 3.07
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet (2000) 2.87
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet (1994) 2.85
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet (1994) 2.83
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet (2001) 2.77
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet (1995) 2.49
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (1995) 2.38
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet (1998) 2.14
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. Am J Hum Genet (1995) 2.12
Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet (2001) 2.07
Malformation syndromes--a diagnostic approach. Arch Dis Child (1984) 2.06
Postaxial acrofacial dysostosis (Miller) syndrome. J Med Genet (1987) 2.03
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet (1993) 2.02
Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers. Genomics (1989) 2.00
Rapid decline in penicillinase-producing Neisseria gonorrhoeae in Hong Kong associated with emerging 4-fluoroquinolone resistance. Genitourin Med (1995) 1.91
Guidelines for DNA banking. Report of the Clinical Genetics Society working party on DNA banking. J Med Genet (1989) 1.91
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet (1997) 1.88
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
Effects of peroxynitrite-induced protein modifications on tyrosine phosphorylation and degradation. FEBS Lett (1996) 1.87
Isolation and partial sequence of recombinant plasmids containing human alpha-, beta- and gamma-globin cDNA fragments. Nature (1978) 1.83
A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation. Am J Med Genet (1985) 1.83
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci U S A (1997) 1.78
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci U S A (1996) 1.76
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
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet (2006) 1.72
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. J Med Genet (1993) 1.71
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet (1998) 1.65
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain (1997) 1.65
Chromosome translocation can occur on either side of the c-myc oncogene in Burkitt lymphoma cells. Nature (1984) 1.63
The phenotypic manifestations of chromosome 17p11.2 duplication. Brain (1997) 1.63
Intrafamilial correlation in Friedreich's ataxia. Clin Genet (1981) 1.62
Chromosomal localization of a single copy gene by in situ hybridization--human beta globin genes on the short arm of chromosome 11. Ann Hum Genet (1981) 1.56
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. Clin Dysmorphol (1996) 1.55
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet (2000) 1.54
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J Med Genet (1993) 1.54
The femoral hypoplasia-unusual facies syndrome. J Med Genet (1984) 1.52
Screening blood donors for gastrointestinal illness: a strategy to eliminate carriers of Yersinia enterocolitica. Transfusion (1991) 1.52
Lumpers, splitters, and FGFRs. Am J Med Genet (1996) 1.49
Dubowitz syndrome. J Med Genet (1986) 1.49
The evolution of stigmata of hemorrhage in bleeding peptic ulcers: a sequential endoscopic study. Endoscopy (1998) 1.45
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Hum Mol Genet (1995) 1.45
Percutaneous ethanol injection as a possible curative treatment for malignant portal vein thrombosis in hepatocellular carcinoma. Cardiovasc Intervent Radiol (1999) 1.42
Surgical pearl: fine gauze is a useful carrier for epidermal graft in the treatment of vitiligo by means of the suction blister method. J Am Acad Dermatol (1999) 1.40
Cutis marmorata telangiectatica congenita. Hong Kong Med J (2007) 1.39
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? J Med Genet (2001) 1.38
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Hum Mol Genet (2001) 1.37
The 3-M syndrome. J Med Genet (1984) 1.37
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance. J Med Genet (1991) 1.36
Cutaneous tuberculosis in Hong Kong: a 10-year retrospective study. Int J Dermatol (1995) 1.36
Nondisjunction of chromosome 15: origin and recombination. Am J Hum Genet (1993) 1.34
A clinically useful DNA probe closely linked to haemophilia A. Lancet (1984) 1.33
Greig cephalopolysyndactyly: report of 13 affected individuals in three families. Clin Genet (1983) 1.33
Perinatal mortality in different ethnic groups. Arch Dis Child (1989) 1.32
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J Med Genet (1988) 1.31
Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency. Lancet (1988) 1.31
Injection or heat probe for bleeding ulcer. Gastroenterology (1991) 1.31
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. Am J Hum Genet (1991) 1.30
Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17. Am J Hum Genet (1990) 1.30
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. Hum Genet (2000) 1.29
Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate. J Med Genet (1992) 1.28
Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. J Med Genet (1989) 1.28
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. J Med Genet (1999) 1.28
Localization of the human alpha-globin gene cluster to the short arm of chromosome 16 (16p12-16pter) by hybridization in situ. J Mol Biol (1982) 1.27
Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears. Am J Med Genet (1988) 1.27
First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13. Br Med J (Clin Res Ed) (1985) 1.26
Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. J Med Genet (1986) 1.26
Fibroblast growth factor receptors: lessons from the genes. Trends Biochem Sci (1998) 1.26
The London Dysmorphology Database. J Med Genet (1987) 1.26
European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. Eur J Med Genet (2005) 1.26
Quinolone-resistant Neisseria gonorrhoeae in Hong Kong. Sex Transm Dis (1997) 1.26
Calorie restriction and cellular proliferation in various tissues of the female Swiss Webster mouse. Cancer Lett (1990) 1.23
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). J Pediatr (1988) 1.23
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion. Hum Genet (1987) 1.23
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am J Hum Genet (2000) 1.23
Smoking, passive smoking and histological types in lung cancer in Hong Kong Chinese women. Br J Cancer (1987) 1.21
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J Med Genet (2001) 1.20
A case of Fryns syndrome. J Med Genet (1986) 1.20
Saethre-Chotzen syndrome. J Med Genet (1994) 1.20
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Hum Genet (2001) 1.19
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet (1997) 1.18
Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. Am J Hum Genet (2000) 1.18
Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning. Am J Med Genet (1992) 1.18
Plasma proteins modified by tyrosine nitration in acute respiratory distress syndrome. Am J Physiol Lung Cell Mol Physiol (2000) 1.18
Clinical phenotype of desmosterolosis. Am J Med Genet (1998) 1.17
A maximum likelihood estimate of the sex ratio of mutation rates in haemophilia A. Hum Genet (1983) 1.16