SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.

Autor: Henn A; Genetic Counselling and Diagnostics, Genetikum Stuttgart, Stuttgart., Weng H; Department of Pediatrics, Klinikum Esslingen, Esslingen., Novak S; Department of Pediatrics, Klinikum Esslingen, Esslingen., Rettenberger G; Genetic Counselling and Diagnostics, Genetikum Neu-Ulm, Neu-Ulm, Germany., Gerhardinger A; Genetic Counselling and Diagnostics, Genetikum Neu-Ulm, Neu-Ulm, Germany., Rossier E; Genetic Counselling and Diagnostics, Genetikum Stuttgart, Stuttgart., Zirn B; Genetic Counselling and Diagnostics, Genetikum Stuttgart, Stuttgart.

Publikováno v: Clinical dysmorphology [Clin Dysmorphol] 2018 Apr; Vol. 27 (2), pp. 27-30.

The porcine gene TBP10 encodes a protein homologous to the human tat-binding protein/26S protease subunit family

Autor: Breech J, Tosso Leeb, Horst Hameister, Rettenberger G, Bertram Brenig

Publikováno v: Mammalian genome : official journal of the International Mammalian Genome Society. 7(3)

We have cloned a porcine gene, designated TBP10, that belongs to the Tat-binding protein/26S protease subunit family. The genomic structure of the porcine TBP10 gene was analyzed after isolation of three overlapping genomic phage lambda clones. The T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::324e8ae8ff345cdd97928ef54d7bef83
https://pubmed.ncbi.nlm.nih.gov/8833236

Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.

Autor: Burgemeister AL; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Daumiller E; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Dietze-Armana I; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Klett C; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Freiberg C; Department of Pediatrics and Adolescent Medicine, Pediatric Endocrinology, University Medicine, Göttingen, Germany., Stark W; Department of Pediatrics and Adolescent Medicine, Pediatric Neurology, University Medicine, Göttingen, Germany., Lingen M; Department of Pediatrics and Adolescent Medicine, Pediatric Neurology, University Medicine, Göttingen, Germany., Centonze I; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Rettenberger G; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Mehnert K; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Zirn B; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Mar; Vol. 173 (3), pp. 727-732. Date of Electronic Publication: 2017 Jan 27.

ZOO-FISH analysis in the horse, Equus caballus, detects regions homologous to human chromosomes 3 and 14.

Autor: Rettenberger, G., Abdo, G., Stranzinger, G.

Publikováno v: Journal of Animal Breeding & Genetics; Jan1996, Vol. 113 Issue 1-6, p145-148, 4p

The porcine gene TBP10 encodes a protein homologous to the human Tat-binding protein/26S protease subunit family.

Autor: Leeb, T., Rettenberger, G., Bruch, J., Hameister, H., Brenig, B.

Publikováno v: Mammalian Genome; Mar1996, Vol. 7 Issue 3, p180-185, 6p