[Frey's syndrome].

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet (1998) 3.94

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet (1998) 3.08

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet (1997) 3.03

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet (1990) 2.77

Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. Nat Genet (1995) 2.10

Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet (2001) 2.07

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet (1997) 1.85

Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. N Engl J Med (1992) 1.58

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. Am J Med Genet (1996) 1.49

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet (1994) 1.40

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet (2000) 1.39

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics (1998) 1.23

MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. Hum Mol Genet (1999) 1.22

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders. J Med Genet (2008) 1.13

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics (1998) 1.11

Identification and characterization of AFG3L2, a novel paraplegin-related gene. Genomics (1999) 1.10

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics (1992) 1.06

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. Am J Hum Genet (1998) 1.06

Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22. Genomics (1999) 1.04

Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics (1999) 1.03

Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. Genomics (2000) 1.02

Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am J Hum Genet (1990) 1.01

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet (1995) 1.01

Primary cilia of odontoblasts: possible role in molar morphogenesis. J Dent Res (2009) 0.96

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet (2009) 0.93

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. Clin Genet (2012) 0.93

Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes. Genomics (1998) 0.92

Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. Hum Mol Genet (1996) 0.92

Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. Genomics (1997) 0.90

A 5' regulatory sequence containing two Ets motifs controls the expression of the Wiskott-Aldrich syndrome protein (WASP) gene in human hematopoietic cells. Blood (1998) 0.89

A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. Hum Mol Genet (1997) 0.89

Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 region. Genomics (1999) 0.88

Identification and characterization of a novel member of the dystrobrevin gene family. FEBS Lett (1998) 0.87

Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. Genomics (1999) 0.84

MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives. Mech Dev (2000) 0.83

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. Am J Med Genet (1997) 0.82

Measurement of hepatic glucose output, krebs cycle, and gluconeogenic fluxes by NMR analysis of a single plasma glucose sample. Anal Biochem (1998) 0.82

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. Am J Med Genet (1995) 0.81

Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nat Genet (1992) 0.81

IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system. Gene (2001) 0.80

Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). Genomics (1999) 0.79

Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)]. Am J Med Genet (2001) 0.79

Construction of a YAC contig covering human chromosome 6p22. Genomics (1996) 0.78

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). Genomics (1995) 0.77

Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes. Nat Genet (1992) 0.77

Retroperitoneal abscess and omphalitis in young infants. Acta Paediatr (2003) 0.77

Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251]. Nucleic Acids Res (1990) 0.75

A new candidate region for the positional cloning of the XLP gene. Eur J Hum Genet (1999) 0.75

Is Georgia medically underserved? J Med Assoc Ga (1979) 0.75

Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity. Eur J Hum Genet (2000) 0.75

Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22). Eur J Hum Genet (1998) 0.75

Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. Hum Genet (1997) 0.75

Strategies for involving health departments in planning--experiences in a rural Georgia health services agency. Public Health Rep (1979) 0.75

The pre-practice seminar and physician recruitment conference--a 4-year review. J Med Assoc Ga (1981) 0.75

Certificate of need--how it is affecting the practice of medicine in Georgia. J Med Assoc Ga (1979) 0.75

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. Am J Med Genet (2001) 0.75

[Psychosis and cannabis consumption: study of the psychopathologic differences and risk factors]. Actas Luso Esp Neurol Psiquiatr Cienc Afines (1990) 0.75

Parental rearing and intimate relations in women's depression. Acta Psychiatr Scand (1993) 0.75

[Stress factors in psychiatric hospitalization]. Arch Neurobiol (Madr) (1992) 0.75