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Literature DB >> 21271671

De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.

Charlotte Schramm, Markus Draaken, Enrika Bartels, Thomas M Boemers, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Stefanie Märzheuser, Stuart Hosie, Stefan Holland-Cunz, Friederike Baudisch, Lutz Priebe, Per Hoffmann, Alexander M Zink, Hartmut Engels, Felix F Brockschmidt, Stefan Aretz, Markus M Nöthen, Michael Ludwig, Heiko Reutter.

Abstract

Entities: Disease

Mesh：

Year: 2011 PMID： 21271671 DOI： 10.1002/ajmg.a.33820

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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6 in total

1. HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.

Authors: Franziska Kause; Rong Zhang; Michael Ludwig; Eberhard Schmiedeke; Anke Rissmann; Holger Thiele; Janine Altmueller; Stefan Herms; Alina C Hilger; Friedhelm Hildebrandt; Heiko Reutter
Journal: Birth Defects Res Date: 2019-03-18 Impact factor: 2.344

2. De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.

Authors: Alina Hilger; Charlotte Schramm; Tracie Pennimpede; Lars Wittler; Gabriel C Dworschak; Enrika Bartels; Hartmut Engels; Alexander M Zink; Franziska Degenhardt; Annette M Müller; Eberhard Schmiedeke; Sabine Grasshoff-Derr; Stefanie Märzheuser; Stuart Hosie; Stefan Holland-Cunz; Charlotte H W Wijers; Carlo L M Marcelis; Iris A L M van Rooij; Friedhelm Hildebrandt; Bernhard G Herrmann; Markus M Nöthen; Michael Ludwig; Heiko Reutter; Markus Draaken
Journal: Eur J Hum Genet Date: 2013-04-03 Impact factor: 4.246

3. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.

Authors: Caroline M Kolvenbach; Amelie T van der Ven; Franziska Kause; Shirlee Shril; Marcello Scala; Dervla M Connaughton; Nina Mann; Makiko Nakayama; Rufeng Dai; Thomas M Kitzler; Ronen Schneider; Luca Schierbaum; Sophia Schneider; Andrea Accogli; Annalaura Torella; Gianluca Piatelli; Vincenzo Nigro; Valeria Capra; Bernd Hoppe; Stefanie Märzheuser; Eberhard Schmiedeke; Heidi L Rehm; Shrikant Mane; Richard P Lifton; Gabriel C Dworschak; Alina C Hilger; Heiko Reutter; Friedhelm Hildebrandt
Journal: Am J Med Genet A Date: 2021-08-02 Impact factor: 2.578

De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.

1. HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.

2. De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.

3. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.

4. Maternal drug use and the risk of anorectal malformations: systematic review and meta-analysis.

Review 5. Lessons Learned from CNV Analysis of Major Birth Defects.

Review 6. The Role of De Novo Variants in Formation of Human Anorectal Malformations.