Barbi G - Search Results

1

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.

Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck G. Kakar N, et al. Among authors: barbi g. Hum Genet. 2015 Jan;134(1):45-51. doi: 10.1007/s00439-014-1487-4. Epub 2014 Sep 14. Hum Genet. 2015. PMID: 25218063

2

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.

Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C. Lessel D, et al. Among authors: barbi g. Nat Genet. 2014 Nov;46(11):1239-44. doi: 10.1038/ng.3103. Epub 2014 Sep 28. Nat Genet. 2014. PMID: 25261934 Free PMC article.

3

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

Spielmann M, Marx S, Barbi G, Flöttmann R, Kehrer-Sawatzki H, König R, Horn D, Mundlos S, Nader S, Borck G. Spielmann M, et al. Among authors: barbi g. Am J Med Genet A. 2016 May;170A(5):1202-7. doi: 10.1002/ajmg.a.37560. Epub 2016 Jan 29. Am J Med Genet A. 2016. PMID: 26822876

4

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gécz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A. Hagens O, et al. Among authors: barbi g. Hum Genet. 2006 Jan;118(5):578-90. doi: 10.1007/s00439-005-0072-2. Epub 2005 Oct 26. Hum Genet. 2006. PMID: 16249884

5

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.

Steinbach P, Wöhrle D, Tariverdian G, Kennerknecht I, Barbi G, Edlinger H, Enders H, Götz-Sothmann M, Heilbronner H, Hosenfeld D, et al. Steinbach P, et al. Among authors: barbi g. Hum Genet. 1993 Nov;92(5):491-8. doi: 10.1007/BF00216457. Hum Genet. 1993. PMID: 7902319

6

Xp-duplications with and without sex reversal.

Baumstark A, Barbi G, Djalali M, Geerkens C, Mitulla B, Mattfeldt T, de Almeida JC, Vargas FR, Llerena Júnior JC, Vogel W, Just W. Baumstark A, et al. Among authors: barbi g. Hum Genet. 1996 Jan;97(1):79-86. doi: 10.1007/BF00218838. Hum Genet. 1996. PMID: 8557267 Review.

7

Maternal transmission of ring chromosome 21.

Kennerknecht I, Barbi G, Vogel W. Kennerknecht I, et al. Among authors: barbi g. Hum Genet. 1990 Nov;86(1):99-101. doi: 10.1007/BF00205185. Hum Genet. 1990. PMID: 2253944

8

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

Wöhrle D, Kotzot D, Hirst MC, Manca A, Korn B, Schmidt A, Barbi G, Rott HD, Poustka A, Davies KE, et al. Wöhrle D, et al. Among authors: barbi g. Am J Hum Genet. 1992 Aug;51(2):299-306. Am J Hum Genet. 1992. PMID: 1642231 Free PMC article.

9

The gene coding for the alpha-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32.

Kennerknecht I, Suormala T, Barbi G, Baumgartner ER. Kennerknecht I, et al. Among authors: barbi g. Hum Genet. 1990 Dec;86(2):238-40. doi: 10.1007/BF00197713. Hum Genet. 1990. PMID: 2265838

10

Heterozygous expression of X-linked chondrodysplasia punctata. Complex chromosome aberration including deletion of MIC2 and STS.

Wöhrle D, Barbi G, Schulz W, Steinbach P. Wöhrle D, et al. Among authors: barbi g. Hum Genet. 1990 Dec;86(2):215-8. doi: 10.1007/BF00197708. Hum Genet. 1990. PMID: 2265834

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