Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kleinwuchs-Homeobox

SHOX-Gen

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Langer-Mesomelie
SHOX
Dyschondrosteosis Leri-Weill
SHOX

Referenzen:

1.

Spranger S et al. (1999) Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

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2.

Kosho T et al. (1999) Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.

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3.

Schiller S et al. (2000) Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.

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4.

Clement-Jones M et al. (2000) The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

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5.

Ogata T et al. (2000) Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.

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6.

Grigelioniene G et al. (2000) Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.

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7.

Huber C et al. (2001) SHOX point mutations in dyschondrosteosis.

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8.

Ross JL et al. (2001) Phenotypes Associated with SHOX Deficiency.

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9.

Rao E et al. (2001) The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator.

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10.

Ogata T et al. (2002) SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.

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11.

Rappold GA et al. (2002) Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

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12.

May CA et al. (2002) Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX.

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13.

Shears DJ et al. (2002) Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

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14.

Zinn AR et al. (2002) Complete SHOX deficiency causes Langer mesomelic dysplasia.

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15.

Niesler B et al. (2002) The human SHOX mutation database.

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16.

Morizio E et al. (2003) Deletion of the SHOX gene in patients with short stature of unknown cause.

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17.

Ogata T et al. (1992) Chromosomal localisation of a pseudoautosomal growth gene(s).

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18.

Sabherwal N et al. (2004) A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

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19.

Sabherwal N et al. (2004) Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.

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20.

Thomas NS et al. (2004) SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.

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21.

Binder G et al. (2004) SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.

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22.

Schneider KU et al. (2005) Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.

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23.

Schneider KU et al. (2005) Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.

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24.

Benito-Sanz S et al. (2005) A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

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25.

Fukami M et al. (2006) Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.

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26.

Ogata T et al. (1992) Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region.

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27.

Zinn AR et al. (2006) A second recombination hotspot associated with SHOX deletions.

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28.

Gatta V et al. (2007) Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.

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29.

Rappold G et al. (2007) Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

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30.

Sabherwal N et al. (2007) Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.

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31.

Marchini A et al. (2007) BNP is a transcriptional target of the short stature homeobox gene SHOX.

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32.

Bertorelli R et al. (2007) The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.

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33.

Bleyl SB et al. (2007) Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

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34.

Henke A et al. (1991) Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.

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35.

Chen J et al. (2009) Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.

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36.

Barca-Tierno V et al. (2011) Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

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37.

Ballabio A et al. (1989) Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

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38.

Zuffardi O et al. (1982) The role of Yp in sex determination: new evidence from X/Y translocations.

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39.

Pfeiffer RA et al. (1980) Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son.

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40.

Kuznetzova T et al. (1994) X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies.

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41.

Kivlin JD et al. (1993) Brachymesomelia and Peters anomaly: a new syndrome.

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42.

Ogata T et al. (1995) Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s).

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43.

Rao E et al. (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.

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44.

Rao E et al. (1997) FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes.

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45.

Ellison JW et al. (1997) PHOG, a candidate gene for involvement in the short stature of Turner syndrome.

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46.

Guichet A et al. (1997) Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity?

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47.

Belin V et al. (1998) SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).

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48.

Shears DJ et al. (1998) Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

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