Výsledky vyhledávání - "Tümer Zeynep"

Akademický článek

Clinical expression of Menkes disease in females with normal karyotype

Autor: Møller Lisbeth, Lenartowicz Malgorzata, Zabot Marie-Therese, Josiane Arnaud, Burglen Lydie, Bennett Chris, Riconda Daniel, Fisher Richard, Janssens Sandra, Mohammed Shehla, Ausems Margreet, Tümer Zeynep, Horn Nina, Jensen Thomas G

Publikováno v: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 6 (2012)

Abstract Background Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X in

Externí odkaz: https://doaj.org/article/bc15a5c9398a4fd2b6e016d76ea537a9

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Akademický článek

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

Autor: Eiklid Kristin L, Fuglsang Kathrine, Duno Morten, Roende Gitte, Ravn Kirstine, Tümer Zeynep, Nielsen Jytte B, Skjeldal Ola H

Publikováno v: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 58 (2011)

Abstract Background Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions,

Externí odkaz: https://doaj.org/article/4c1c2f0aeaed41d2bef23f9cf21ab891

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Akademický článek

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

Autor: Tommerup Niels, Baekgaard Peter, Pedersen Vibeke, Ledaal Paal, Friis Birgitte, Hahnemann Johanne, Hjalgrim Helle, Tümer Zeynep, Sogaard Marie, Cingöz Sultan, Duno Morten, Brondum-Nielsen Karen

Publikováno v: BMC Medical Genetics, Vol 6, Iss 1, p 21 (2005)

Abstract Background Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for

Externí odkaz: https://doaj.org/article/d1e591545d4245d28627aadc6e1a1979

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Akademický článek

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)

Autor: Tommerup Niels, Petersen Michael B, Werdelin Lene, Panas Marios, Gredal Ole, Brondum-Nielsen Karen, Silahtaroglu Asli N, Tümer Zeynep

Publikováno v: BMC Genetics, Vol 3, Iss 1, p 5 (2002)

Abstract Background Amyotrophic lateral sclerosis (ALS) is a progressive lethal disorder of large motor neurons of the spinal cord and brain. In approximately 20% of the familial and 2% of sporadic cases the disease is due to a defect in the gene enc

Externí odkaz: https://doaj.org/article/cdd930fe08d9497ca46aa3beb2dfb812

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