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2.732 Aktuelle Fachpublikationen in American Journal of Medical Genetics Part A

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Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome

19.01.2018 | Bianca Quiñones‐Pérez, Grace E. VanNoy, Meghan C. Towne, Yiping Shen, Michael N. Singh, Pankaj B. Agrawal, Sharon E. ..., American Journal of Medical Genetics Part A, 2018

Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF‐ß) activation. Dysregulation of the TGF‐ß pathway has been implicated in the pathogenesis of ...

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Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

17.01.2018 | Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A. Mensah, Sorin Iurian, Martina Simandlova, Marcela Malik ..., American Journal of Medical Genetics Part A, 2018

The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber ...

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Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

17.01.2018 | Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A. Mensah, Sorin Iurian, Martina Simandlova, Marcela Malik ..., American Journal of Medical Genetics Part A, 2018

The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber ...

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Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non‐lethal form of Raine syndrome

17.01.2018 | Kei Tamai, Katsuhiko Tada, Akihito Takeuchi, Makoto Nakamura, Hidenori Marunaka, Yosuke Washio, Hiroyuki Tanaka, Fuy ..., American Journal of Medical Genetics Part A, 2018

Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non‐lethal Raine syndrome who ...

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Somatic mosaic deletions involving SCN1A cause Dravet syndrome

17.01.2018 | Tojo Nakayama, Atsushi Ishii, Takeshi Yoshida, Hirosato Nasu, Keiko Shimojima, Toshiyuki Yamamoto, Shigeo Kure, Shin ..., American Journal of Medical Genetics Part A, 2018

Somatic mosaicism in single nucleotide variants of SCN1A is known to occur in a subset of parents of children with Dravet syndrome (DS). Here, we report recurrent somatic mosaic microdeletions involving SCN1A in children diagnosed with DS. Through the evaluation of 237 affected individuals with ...

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Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome

17.01.2018 | Blaine Crowley, Melanie Ruffner, Donna M. McDonald McGinn, Kathleen E. Sullivan, American Journal of Medical Genetics Part A, 2018

The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. A hypoplastic thymus was one of the first features described in this syndrome and low T cell counts, as ...

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Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome

17.01.2018 | Blaine Crowley, Melanie Ruffner, Donna M. McDonald McGinn, Kathleen E. Sullivan, American Journal of Medical Genetics Part A, 2018

The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. A hypoplastic thymus was one of the first features described in this syndrome and low T cell counts, as ...

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A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation

17.01.2018 | Narumi Tokaji, Hiromichi Ito, Tomohiro Kohmoto, Takuya Naruto, Rizu Takahashi, Aya Goji, Tatsuo Mori, Yoshihiro Toda ..., American Journal of Medical Genetics Part A, 2018

Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss‐of‐function mutations that affect the coding sequence of exon 3 or 4 of methyl‐CpG‐binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of ...

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Bi‐allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus

17.01.2018 | Gaia Ruggeri, Andrew E. Timms, Chi Cheng, Avery Weiss, Peter Kollros, Teresa Chapman, Hannah Tully, Ghayda M. Mirzaa, American Journal of Medical Genetics Part A, 2018

Congenital or infantile hydrocephalus is caused by genetic and non‐genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a ...

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Intellectual disability and epilepsy due to the K/L‐mediated Xq28 duplication: Further evidence of a distinct, dosage‐dependent phenotype

17.01.2018 | David Isum Ward, Bethany A. Buckley, Eyby Leon, Jullianne Diaz, Margaret Faust Galegos, Sean Hofherr, Amy Feldman Le ..., American Journal of Medical Genetics Part A, 2018

Copy number variants of the X‐chromosome are a common cause of X‐linked intellectual disability in males. Duplication of the Xq28 band has been known for over a decade to be the cause of the Lubs X‐linked Mental Retardation Syndrome (OMIM 300620) in males and this duplication has been narrowed ...

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