CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder.

PubWeight™: 0.78‹?›

🔗 View Article (PMID 19906044)

Published in J Eur Acad Dermatol Venereol on November 02, 2009

Authors

G P Avgerinou1, A P Asvesti, A D Katsambas, V A Nikolaou, E C Christofidou, K H Grzeschik, R Happle

Author Affiliations

1: 1st Department of Dermatology, A Sygros Hospital, University of Athens, Greece.

Articles by these authors

The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature (1987) 17.08

Report of the Committee on the Genetic Constitution of Chromosomes 10, 11, and 12. Cytogenet Cell Genet (1985) 5.01

The skeletal muscle chloride channel in dominant and recessive human myotonia. Science (1992) 4.28

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol (1987) 3.40

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature (1991) 3.25

Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet (1999) 3.02

Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products. EMBO J (1989) 2.88

Report of the committee on the genetic constitution of chromosome 20. Cytogenet Cell Genet (1990) 2.67

Cytovillin, a microvillar Mr 75,000 protein. cDNA sequence, prokaryotic expression, and chromosomal localization. J Biol Chem (1989) 2.61

What every dermatologist should know about homeopathy. Arch Dermatol (1996) 2.59

Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc. Nature (1984) 2.32

Regional mapping of six cloned DNA sequences on human chromosome 7. Am J Hum Genet (1986) 2.26

Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A (1984) 2.23

Hepatitis B virus DNA integration in a sequence homologous to v-erb-A and steroid receptor genes in a hepatocellular carcinoma. Nature (1986) 2.21

Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man. Proc Natl Acad Sci U S A (1980) 2.00

The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet (1986) 1.98

Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts. Hum Genet (1992) 1.94

A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes. Am J Hum Genet (1990) 1.94

Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet (1986) 1.92

Lyonization and the lines of Blaschko. Hum Genet (1985) 1.86

Cytokine mRNA levels in Alopecia areata before and after treatment with the contact allergen diphenylcyclopropenone. J Invest Dermatol (1994) 1.76

Superimposed lateralized exanthem of childhood: report of a case related to adenovirus infection. Clin Exp Dermatol (2014) 1.73

Induction of hair growth in alopecia areata with D.N.C.B. Lancet (1977) 1.66

Type 2 segmental Cowden disease vs. Proteus syndrome. Br J Dermatol (2007) 1.63

Cutaneous manifestation of lethal genes. Hum Genet (1986) 1.59

Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics (1989) 1.59

Treatment of alopecia areata with diphenylcyclopropenone. J Am Acad Dermatol (1991) 1.56

Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. Br J Dermatol (2003) 1.56

A human autosomal phosphoglycerate kinase locus maps near the HLA cluster. Proc Natl Acad Sci U S A (1984) 1.55

Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. Am J Med Genet (1996) 1.54

Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19. Hum Genet (1985) 1.53

Nucleotide sequence of the gene for human transition protein 1 and its chromosomal localization on chromosome 2. Genomics (1990) 1.49

Psoriasis vulgaris, fetal growth, and genomic imprinting. Am J Med Genet (1992) 1.49

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet (2000) 1.48

Melanoma/skin cancer screening in a Mediterranean country: results of the Euromelanoma Screening Day Campaign in Greece. J Eur Acad Dermatol Venereol (2007) 1.48

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet (1999) 1.44

An epidemiological study of syphilis incognito, an emerging public health problem in Greece. Arch Dermatol (2001) 1.43

Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers). Proc Natl Acad Sci U S A (1972) 1.42

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet (1999) 1.40

[What is a hamartoma?]. Ann Dermatol Venereol (1998) 1.39

Mutation in GLI3 in postaxial polydactyly type A. Nat Genet (1997) 1.38

Expression pattern in brain of TASK-1, TASK-3, and a tandem pore domain K(+) channel subunit, TASK-5, associated with the central auditory nervous system. Mol Cell Neurosci (2001) 1.37

The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr (1980) 1.36

Molecular characterization of human zyxin. J Biol Chem (1996) 1.36

An unusual case of porokeratosis involving the natal cleft: porokeratosis ptychotropica? Br J Dermatol (1995) 1.36

Thalidomide in the treatment of sixty cases of chronic discoid lupus erythematosus. Br J Dermatol (1983) 1.35

Dispersed human immunoglobulin kappa light-chain genes. Nature (1986) 1.35

Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. Am J Med Genet (1996) 1.32

Point mutations in human GLI3 cause Greig syndrome. Hum Mol Genet (1997) 1.29

Alkali myosin light chains in man are encoded by a multigene family that includes the adult skeletal muscle, the embryonic or atrial, and nonsarcomeric isoforms. Gene (1988) 1.29

Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation. Hum Genet (1982) 1.25

Diphencyprone in the treatment of alopecia areata. Acta Derm Venereol (1983) 1.24

Assignment of the gene for human glucose dehydrogenase (E.C. 1.1.1.47) to chromosome 1 using somatic cell hybrids. Cytogenet Cell Genet (1978) 1.22

[Atrophodermia linearis Moulin. A new disease picture, following the Blaschko lines]. Hautarzt (1994) 1.22

THIK-1 and THIK-2, a novel subfamily of tandem pore domain K+ channels. J Biol Chem (2000) 1.20

Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. Cytogenet Cell Genet (2001) 1.19

Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones. Genomics (1994) 1.18

Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11). Proc Natl Acad Sci U S A (1987) 1.17

Dinitrochlorobenzene therapy for alopecia areata. Arch Dermatol (1978) 1.15

Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I. Eur J Dermatol (2001) 1.14

Immunohistochemical analysis of T-cell subsets in the peribulbar and intrabulbar infiltrates of alopecia areata. Acta Derm Venereol (1984) 1.13

The human lysozyme gene. Sequence organization and chromosomal localization. Eur J Biochem (1989) 1.13

X-linkage of human phosphoglycerate kinase confirmed in man-mouse and man-Chinese hamster somatic cell hybrids. Am J Hum Genet (1971) 1.13

Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). J Eur Acad Dermatol Venereol (2006) 1.12

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. Hum Mol Genet (1997) 1.12

The human lactase-phlorizin hydrolase gene is located on chromosome 2. FEBS Lett (1988) 1.10

X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Hum Genet (1979) 1.10

Assignment of a structural gene for beta-glucuronidase to human chromosome C7. Somatic Cell Genet (1976) 1.10

Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia. Clin Genet (1985) 1.09

Identification of human RNA transcripts among heterogeneous nuclear RNA from man-mouse somatic cell hybrids. Proc Natl Acad Sci U S A (1975) 1.09

Further evidence for the dispersion of the human fibrillar collagen genes. Am J Hum Genet (1986) 1.09

Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). Mamm Genome (1992) 1.08

Cloning of a cDNA encoding the human cation-dependent mannose 6-phosphate-specific receptor. Proc Natl Acad Sci U S A (1987) 1.07

[How are the Blaschko lines arranged on the scalp?]. Hautarzt (1984) 1.07

Two nonallelic tRNAiMet genes are located in the p23 leads to q12 region of human chromosome 6. Proc Natl Acad Sci U S A (1983) 1.07

Linear verrucous hemangioma. J Am Acad Dermatol (2000) 1.06

Clinical and therapeutic approach to childhood acne: an update. Pediatr Dermatol (2009) 1.06

Partial reactivation of a human inactive X chromosome in human-mouse somatic cell hybrids. Cytogenet Cell Genet (1978) 1.06

Report of the Committee on the Genetic Constitution of Chromosomes 10, 11, and 12. Cytogenet Cell Genet (1984) 1.06

Identification of optimized target sequences for the GLI3 zinc finger protein. DNA Cell Biol (1995) 1.05

Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa staining. Humangenetik (1975) 1.03

Coexisting linear and disseminated drug eruption: a clinical clue to the understanding of the genetic basis of drug eruptions. Eur J Dermatol (2001) 1.03

Abnormal expression of class I and class II major histocompatibility antigens in alopecia areata: modulation by topical immunotherapy. J Invest Dermatol (1987) 1.02

PCR mediated detection of a new human receptor-tyrosine-kinase, HEK 2. Oncogene (1993) 1.02

Two cases of type 2 segmental manifestation in a family with cutaneous leiomyomatosis. Eur J Dermatol (2000) 1.02

Inflammatory linear verrucous epidermal nevus (ILVEN) in a mother and her daughter. Am J Med Genet (1986) 1.02

Antigenic competition as a therapeutic concept for alopecia areata. Arch Dermatol Res (1980) 1.02

Assignment of two human cell cycle genes, CDC25C and CCNB1, to 5q31 and 5q12, respectively. Genomics (1992) 1.01

Arguments in favor of a polygenic inheritance of precursor nevi. J Am Acad Dermatol (1982) 1.01

HID and KID syndromes are associated with the same connexin 26 mutation. Br J Dermatol (2002) 1.01

Localization of the human beta-catenin gene (CTNNB1) to 3p21: a region implicated in tumor development. Genomics (1994) 1.01

[Pincer nail. Conservative correction by attachment of a plastic brace]. Hautarzt (1993) 1.01

Klippel-Trenaunay syndrome: is it a paradominant trait? Br J Dermatol (1993) 1.01

Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. Arch Dermatol (1998) 1.00

Topical immunotherapy changes the composition of the peribulbar infiltrate in alopecia areata. Arch Dermatol Res (1986) 1.00

[Alopecia areata: successful half-side treatment with DNCB]. Z Hautkr (1977) 1.00

Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7. Am J Hum Genet (1987) 1.00

Localization of MPI, PKM2, IDHM, and the alpha subunit of hexosaminidase (HEXA) to the q21 leads to qter region of human chromosome 15. Cytogenet Cell Genet (1978) 0.99

Isolation and characterization of human random cDNA clones homologous to DNA from the X chromosome. Somat Cell Mol Genet (1984) 0.99