Search Results - "Jakubiczka, S"

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis by Boppudi, S., Bögershausen, N., Hove, H.B., Percin, E.F., Aslan, D., Dvorsky, R., Kayhan, G., Li, Y., Cursiefen, C., Tantcheva-Poor, I., Toft, P.B., Bartsch, O., Lissewski, C., Wieland, I., Jakubiczka, S., Wollnik, B., Ahmadian, M.R., Heindl, L.M., Zenker, M.

“…Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids,…”
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P23. Basal ganglia pathology in amyotrophic lateral sclerosis is associated with cognitive and behavioural changes by Machts, J, Loewe, K, Kaufmann, J, Jakubiczka, S, Abdulla, S, Petri, S, Dengler, R, Heinze, H.-J, Schoenfeld, M.A, Vielhaber, S, Bede, P

“…Introduction Extrapyramidal, cognitive, and sensory deficits are increasingly recognised in patients with amyotrophic lateral sclerosis (ALS), suggesting…”
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Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome by Wieland, I, Weidner, C, Ciccone, R, Lapi, E, McDonald-McGinn, D, Kress, W, Jakubiczka, S, Collmann, H, Zuffardi, O, Zackai, E, Wieacker, P

“…Craniofrontonasal syndrome (CFNS [MIM 304110]) is an X‐linked malformation syndrome characterized by craniofrontonasal dysplasia and extracranial…”
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Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal by Jakubiczka, S, Schröder, C, Ullmann, R, Volleth, M, Ledig, S, Gilberg, E, Kroisel, P, Wieacker, Peter

“…Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal. Causative are mutations within the…”
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Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia by Wieland, I, Muschke, P, Jakubiczka, S, Volleth, M, Freigang, B, Wieacker, P F

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The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile Caucasoid sample of German origin by Dadze, S., Wieland, C., Jakubiczka, S., Funke, K., Schröder, E., Royer-Pokora, B., Willers, R., Wieacker, P.F.

“…The androgen receptor (AR) gene, located on the X-chromosome at Xq11-12, contains in exon 1 a polymorphic CAG repeat which codes for a polyglutamine tract…”
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Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0549 by Jakubiczka, S, Schulz, S, Wieacker, P

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Chimerism in a fertile woman with 46,XY karyotype and female phenotype by SUDIK, R, JAKUBICZKA, S, NAWROTH, F, GILBERG, E, WIEACKER, P. F

“…We report on the unexpected finding of a 46,XY karyotype in a 30 year-old woman with normal ovarian function and a former pregnancy at 17 years of age…”
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Familial translocation t(1;9) associated with macromastia: molecular cloning of the breakpoints by Wieacker, P, Apeshiotis, N, Jakubiczka, S, Volleth, M, Wieland, I

“…A familial reciprocal translocation associated with severe macromastia has been characterized by molecular cytogenetic and molecular analysis. Cloning of the…”
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Distribution of sex chromosomes in dysgenetic gonads of mixed type by Röpke, A, Kalinski, T, Mohnike, K, Sel, S, Jakubiczka, S, Pelz, A-F, Roessner, A, Wieacker, P F

“…In a four-week-old child with female external and internal genitalia but with clitoris hypertrophy chromosome analysis from blood lymphocytes revealed a 46,XY…”
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Frequency of CFTR gene mutations in males participating in an ICSI programme by JAKUBICZKA, S, BETTECKEN, T, STUMM, M, NICKEL, I, MÜSEBECK, J, KREBS, P, FISCHER, C, KLEINSTEIN, J, WIEACKER, P

“…A higher prevalence of cystic fibrosis transmembrane regulator (CFTR) gene mutations has been suggested both in men affected by congenital aplasia of the vas…”
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Mapping of a further locus for X-linked craniofrontonasal syndrome by Wieland, I, Jakubiczka, S, Muschke, P, Wolf, A, Gerlach, L, Krawczak, M, Wieacker, P

“…Craniofrontonasal syndrome is a rare dysostosis syndrome with an unusual pattern of X-linked inheritance, because males are usually not or less severely…”
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Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes by Horn, L-C, Limbach, A, Hoepffner, W, Tröbs, R B, Keller, E, Froster, U-G, Richter, C E, Jakubiczka, S

“…To identify patients who had Ullrich-Turner syndrome (UTS) and were at risk for gonadoblastoma or associated germ cell tumors, molecular genetic analysis was…”
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Sex reversal in a child with the karyotype 46,XY, dup (1) (p22.3p32.3) by Wieacker, P, Missbach, D, Jakubiczka, S, Borgmann, S, Albers, N

“…The karyotype 46,XY, dup(1) (p22.3p32.3) was found in a 10-year-old patient with sex reversal, mental retardation and multiple dysmorphic features. In other…”
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A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia by Knoke, I., Jakubiczka, S., Lehnert, H., Wieacker, P.

“…Mutations of the androgen receptor gene in genetic males cause a variety of androgen insensitivity syndromes varying from female phenotype through…”
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Genetic causes of male infertility by Wieacker, P., Jakubiczka, S.

“…Summary Male infertility has often been ascribed to infections, immunologic factors, chemical insults or malformations. About 10% of infertile males have…”
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Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome by KLOOS, D.-U, JAKUBICZKA, S, WIENKER, T, WOLFF, G, WIEACKER, P

“…The Wieacker-Wolff syndrome (WWS, MIM* 314580), first described clinically in 1985, is an X-linked recessive disorder. In earlier studies, linkage between the…”
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A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome by Dörk, T, Schnieders, F, Jakubiczka, S, Wieacker, P, Schroeder-Kurth, T, Schmidtke, J

“…Several mutations have been described in the human androgen receptor gene including constitutional mutations in androgen insensitivity syndrome, somatic…”
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Clinical and molecular aspects of androgen receptor defects by Wieacker, P F, Knoke, I, Jakubiczka, S

“…The androgen receptor (AR) is a ligand-dependent transcription factor involved in various biological processes such as sex differentiation, sexual maturation…”
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Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy by Volleth, M, Stumm, M, Mohnike, K, Kalscheuer, V M, Jakubiczka, S, Wieacker, P

“…We report on an 18-year-old female with de novo tandem duplication Xq23-->Xq27-28. The breakpoints of the duplication segment have been mapped by FISH using a…”
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