نتایج جستجو برای: deletion 6q

تعداد نتایج: 79891  

Journal: :Neurology 2004
J C Jen H Wang H Lee C Sabatti R Trent I Hannigan K Brantberg G M Halmagyi S F Nelson R W Baloh

BACKGROUND Of the more than 40 genetically defined dominantly inherited hearing loss syndromes, only a few are associated with bilateral vestibulopathy. No genetic mutations have been identified in families with bilateral vestibulopathy and normal hearing. OBJECTIVE To perform a genome-wide scan for linkage in four families with dominantly inherited bilateral vestibulopathy. METHODS Patient...

Journal: :Australasian J. Combinatorics 2001
Caikun Liu Qingde Kang Zhifen Guo

A Mendelsohn design lv! D( v, k, A) is a pair (X, B) where X is a v-set together with a collection B of cyclic k-tuples from X such that each ordered pair from X is contained in exactly A cyclic k-tuples of B. An M D(v, k, A) is said to be self-converse, denoted by SC1\ID(v,k,A) = (X,B,f), if there is an isomorphism f from (X, B) to (X, B-1), where B1 = {(:Ek,:r:k-l, ""X2,Xl!: (:1:1, ""Xk! E B}...

Journal: :Journal of medical genetics 2003
J Kraus G Lederer C Keri H Seidel I Rost A Wirtz C Fauth M R Speicher

Subtelomeric rearrangements have recently gained considerable interest through publications indicating that they may be a major cause for unexplained mental retardation and/or multiple congenital anomalies. 2 As the subtelomeric regions have the highest gene density in the genome, subtelomeric aneusomies are in general thought to have a significant effect on the phenotype. Prenatal onset of gro...

Journal: :Human molecular genetics 2006
Rector Arya Ellen Demerath Christopher P Jenkinson Harald H H Göring Sobha Puppala Vidya Farook Sharon Fowler Jennifer Schneider Richard Granato Roy G Resendez Thomas D Dyer Shelley A Cole Laura Almasy Anthony G Comuzzie Roger M Siervogel Benjamin Bradshaw Ralph A DeFronzo Jean MacCluer Michael P Stern Bradford Towne John Blangero Ravindranath Duggirala

Low birth weight is an important cause of infant mortality and morbidity worldwide. Birth weight has been shown to be inversely correlated with adult complex diseases such as obesity, type-2 diabetes and cardiovascular disease. However, little is known about the genetic factors influencing variation in birth weight and its association with diseases that occur in later life. We, therefore, have ...

2014
THALE KRISTIN OLSEN LUDMILA GORUNOVA TORSTEIN R. MELING FRANCESCA MICCI DAVID SCHEIE BERNT DUE-TØNNESSEN SVERRE HEIM PETTER BRANDAL

Ependymomas are rare tumors of the central nervous system (CNS). They are classified based on tumor histology and grade, but the prognostic value of the WHO grading system remains controversial. Treatment is mainly surgical and by radiation. An improved knowledge of ependymoma biology is important to elucidate the pathogenesis, to improve classification schemes, and to identify novel potential ...

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