Výsledky vyhledávání - "Christiane Spaich"

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

Autor: Christiane Spaich, Saskia Biskup, Deborah Bartholdi, Martin Zenker, Dennis Döcker, M. Menzel, Max Schubach, Heinz-Dieter Gabriel

Publikováno v: European Journal of Human Genetics. 23:409-412

Megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth syndrome that is diagnosed by clinical criteria. Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been des

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b8eac5c7d1b9b257ce623b2d0b53d71
https://doi.org/10.1038/ejhg.2014.118

Zobrazit plný text záznamu

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Publikováno v: Molecular Genetics and Metabolism, 110, 352-61
Molecular Genetics and Metabolism, 110, 3, pp. 352-61

Item does not contain fulltext Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f4a9290161bb3a43a749084a8fa979e
https://doi.org/10.1016/j.ymgme.2013.08.009

Zobrazit plný text záznamu

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

Autor: Susanne Ledig, Kerstin Spree, Saadettin Sel, Christiane Spaich, Albrecht Röpke, Peter Wieacker, Claudia Haase, Axel Bohring, Ute Hehr, Mandy Hoffmann, Thomas Stamm

Publikováno v: The American Journal of Human Genetics. 85(1):97-105

Odonto-onycho-dermal dysplasia (OODD), a rare autosomal-recessive inherited form of ectodermal dysplasia including severe oligodontia, nail dystrophy, palmoplantar hyperkeratosis, and hyperhidrosis, was recently shown to be caused by a homozygous non

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f78bc5368c6575a2995f8ad5d5d766f5

Zobrazit plný text záznamu

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

Autor: Kerstin Kutsche, Dagmar Wieczorek, M Mar García González, Silvia Azzarello-Burri, Christiane Spaich, May-Britt Harmsen, Anita Rauch, Martin Zenker, Dietmar Müller, Peter Meinecke, Eva Seemanova, Eva Rossier, Bernhard Steiner, Gabriele Gillessen-Kaesbach

Publikováno v: European Journal of Human Genetics. 17:1207-1215

Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61b484445ffd0e320c88fc69c548a35c
https://doi.org/10.1038/ejhg.2009.40

Zobrazit plný text záznamu

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients

Autor: Karin Jantz, Christiane Spaich, Nitin Sabherwal, Georg K. Hinkel, Ralph Röth, Hetty J. van der Kamp, Cheryll Tickle, Fiona Bangs, Gudrun A. Rappold, Johannes Kapeller, Eva Tiecke, Birgit Weiss, Berthold P. Hauffa

Publikováno v: Human Molecular Genetics. 16:210-222

Defects in long-range regulatory elements have recently emerged as previously underestimated factors in the genesis of human congenital disorders. Léri-Weill dyschondrosteosis is a dominant skeletal malformation syndrome caused by mutations in the s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3e510767a66a6dcfbb7984ba9666291
https://doi.org/10.1093/hmg/ddl470

Zobrazit plný text záznamu

Further delineation of the SATB2 phenotype

Autor: Marita Munz, Saskia Biskup, Dennis Döcker, Deborah Bartholdi, Christiane Spaich, M. Menzel, Max Schubach

SATB2 is an evolutionarily highly conserved chromatin remodeling gene located on chromosome 2q33.1. Vertebrate animal models have shown that Satb2 has a crucial role in craniofacial patterning and osteoblast differentiation, as well as in determining

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f5dc8be87e9ff343c5eceae2ad47ec2
https://europepmc.org/articles/PMC4350596/

Zobrazit plný text záznamu

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination

Autor: E Pijkels, Peter Marynen, Hilde Van Esch, Karen Govaerts, Jürgen Kohlhase, Jelle Verbeeck, Christiane Spaich, Montserrat Milà, Isabel Fernandez, Jean-Pierre Fryns, Guido Froyen, Joke Vandewalle, Irene Madrigal, Anita Rauch, Christiane Zweier

Publikováno v: American Journal of Human Genetics, 85, 6, pp. 809-22
American Journal of Human Genetics, 85, 809-22

We report on the identification of a 0.3 Mb inherited recurrent but variable copy-number gain at Xq28 in affected males of four unrelated families with X-linked mental retardation (MR). All aberrations segregate with the disease in the families, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689f04b154345e16be21fdebe7f6a9d9
https://doi.org/10.1016/j.ajhg.2009.10.019

Zobrazit plný text záznamu

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome 'tiling path' BAC array in a girl with heart defect, cleft palate, and developmental delay

Autor: Reinhard Ullmann, Christiane Spaich, Andreas Tzschach, Hans-Hilger Ropers, Wei Chen, Sabine Adolph, Claus Hultschig, Marei Schubert, Fikret Erdogan, Vera M. Kalscheuer

Publikováno v: American journal of medical genetics. Part A. (2)

High-resolution array CGH utilizing sets of overlapping BAC and PAC clones ("tiling path") covering the whole genome is a powerful novel tool for fast detection of submicroscopic chromosome deletions or duplications. We describe the successful applic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1539dc2314f15b73b41b6ceac59b736c
https://pubmed.ncbi.nlm.nih.gov/17163532

Zobrazit plný text záznamu

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

Autor: Stephen R. Braddock, Alexis Poss, Duane W. Superneau, Christiane Spaich, John M. Opitz, Margherita Lerone, Axel Bohring, Margherita Silengo

We report on four unrelated cases of an Opitz trigonocephaly (C)-like syndrome with a highly characteristic combination of facial anomalies including prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a76cb406d2089e3520780c5d12e1842
http://hdl.handle.net/2318/90155

Zobrazit plný text záznamu

Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features

Autor: Thomas Eggermann, Matthias Begemann, Anna Jauch, Bernd Denecke, Michael Baudis, Ute Moog, Barbara Oehl-Jaschkowitz, Klaus Zerres, Peter Michael Kroisel, Bernd Schulze, Peter Blümel, Nadina Ortiz Brüchle, Sabrina Spengler, Gisela Raabe-Meyer, Christiane Spaich

Publikováno v: The Journal of Pediatrics. 161:933-942.e1

Objective To determine the contribution of submicroscopic chromosomal imbalances to the etiology of Silver-Russell syndrome (SRS) and SRS-like phenotypes. Study design We performed molecular karyotyping in 41 patients with SRS or SRS-like features wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1255bc02375c600ddacb590936932226
https://doi.org/10.1016/j.jpeds.2012.04.045

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání