Search Results - "Jedele, K B"

Mutation Screening of the BTK Gene in 56 Families With X-Linked Agammaglobulinemia (XLA): 47 Unique Mutations Without Correlation to Clinical Course by Holinski-Feder, Elke, Weiss, Michael, Brandau, Oliver, Jedele, Kerry B, Nore, Beston, Backesjo, C. Magnus, Vihinen, Mauno, Hubbard, Stevan R, Belohradsky, Bernd H, Smith, C.I. Edvard, Meindl, Alfons

“…To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for mutation screening in the BTK (Bruton's tyrosine kinase) gene, we…”
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Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome by Schworm, H D, Jedele, K B, Holinski, E, Hörtnagel, K, Rudolph, G, Boergen, K P, Kampik, A, Meitinger, T

“…The Schimmelpenning-Feuerstein-Mims syndrome (SFM), characterized by linear nevus sebaceous and ocular and neurologic abnormalities, is a sporadic condition…”
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Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries by Jedele, K B, Michels, V V, Puga, F J, Feldt, R H

“…We report on 15 patients with velo-cardiofacial syndrome who had a severe form of tetralogy of Fallot (pulmonary atresia, ventricular septal defect, and…”
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Large Intergenerational Variation in Age of Onset in Two Young Patients With Huntington's Disease Presenting as Dyskinesia by Holinski-Feder, Elke, Jedele, Kerry Baldwin, Hortnagel, Konstanze, Albert, Angelika, Meindl, Alfons, Trenkwalder, Claudia

“…The number of CAG trinucleotide repeats expressed in Huntington's disease (HD) may not always be as predictive for age of onset as previously believed. HD is a…”
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Spinal and bulbar muscular atrophy (SBMA): Somatic stability of an expanded CAG repeat in fetal tissues by Jedele, Kerry Baldwin, Wahl, Dagmar, Chahrokh-Zadeh, Soheyla, Wirtz, Antje, Murken, Jan, Holinski-Feder, Elke

“…Spinal and bulbar muscular atrophy (SBMA) is a rare X‐linked motor neuron degenerative disease caused by an expanded trinucleotide repeat. Unlike most other…”
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FRAXE testing by Holinski-Feder, E, Chahrokh-Zadeh, S, Jedele, K B, Meindl, A, Steinbach, P, Wöhrle, D

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A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy by Jaksch, M, Hofmann, S, Kleinle, S, Liechti-Gallati, S, Pongratz, D E, Müller-Höcker, J, Jedele, K B, Meitinger, T, Gerbitz, K D

“…COX deficiency is believed to be the most common defect in neonates and infants with mitochondrial diseases. To explore the causes of this group of disorders,…”
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Familial dermographism by Jedele, K B, Michels, V V

“…Urticaria in response to various physical stimuli has been reported in sporadic and familial patterns. The most common of these physical urticarias,…”
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Nonsyndromic X-linked mental retardation: Mapping of MRX58 to the pericentromeric region by Holinski-Feder, Elke, Chahrockh-Zadeh, Soheyla, Rittinger, Olaf, Jedele, Kerry Baldwin, Gasteiger, Maria, Lenski, Claus, Murken, Jan, Golla, Astrid

“…An Austrian family with nonsyndromic X‐linked mental retardation (MRX) is reported in which the obligatory carrier females are normal, and 5 affected males…”
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Frequency of congenital heart defects in patients with hemophilia by Jedele, K B, Michels, V V, Gordon, H, Gilchrist, G S

“…Most structural congenital heart defects (CHD) are thought to be multifactorially determined, but the precise causal factors usually are unknown. One may…”
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UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2 by Brandau, O, Nyakatura, G, Jedele, K B, Platzer, M, Achatz, H, Ross, M, Murken, J, Rosenthal, A, Meindl, A

“…The gene for ubiquitin hydrolase on the X chromosome (UHX1), cloned and mapped to Xp21.2-p11.2, is a candidate gene for retinal diseases. We used fine mapping…”
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Linkage of nonspecific X-linked mental retardation to Xq21.31 by Jedele, K B, Michels, V V, Schaid, D J, Schowalter, K V, Thibodeau, S N

“…Mental retardation unassociated with the Fragile X syndrome accounts for up to 60% of patients with X-linked mental retardation. In this investigation, we…”
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MRX42: Two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation by Golla, Astrid, Rost, Imma, Jedele, Kerry Baldwin, Albert, Angelika, Murken, Jan, Holinski-Feder, Elke

“…A nonspecific X‐linked mental retardation (MRX) family is reported with four mild to moderately affected males and no intellectual impairment in their obligate…”
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A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNASer(UCN) mutations in a subgroup with syndromal encephalopathy by JAKSCH, M, HOFMANN, S, KLEINLE, S, LIECHTI-GALLATI, S, PONGRATZ, D. E, MÜLLER-HÖCKER, J, JEDELE, K. B, MEITINGER, T, GERBITZ, K.-D

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Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresiaé, and hypoplastic pulmonary arteries by JEDELE, K. B, MICHELS, V. V, PUGA, F. J, FELDT, R. H

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