Barbi G - Search Results

1

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.

2

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

3

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

4

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.

5

Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.

Gläser B, Rossier E, Barbi G, Chiaie LD, Blank C, Vogel W, Kehrer-Sawatzki H. Gläser B, et al. Among authors: barbi g. Am J Med Genet A. 2003 Jan 1;116A(1):66-70. doi: 10.1002/ajmg.a.10878. Am J Med Genet A. 2003. PMID: 12476454 Review.

6

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

7

ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.

Schuetz C, Barbi G, Barth TF, Hoenig M, Schulz A, Möeller P, Smeets D, de Greef JC, van der Maarel SM, Vogel W, Debatin KM, Friedrich W. Schuetz C, et al. Among authors: barbi g. Am J Med Genet A. 2007 Sep 1;143A(17):2052-7. doi: 10.1002/ajmg.a.31885. Am J Med Genet A. 2007. PMID: 17702009

8

Diagnosis of retinoblastoma in a presymptomatic stage after detection of interstitial chromosomal deletion 13q.

Kennerknecht I, Barbi G, Greher J. Kennerknecht I, et al. Among authors: barbi g. Ophthalmic Genet. 1994 Mar;15(1):19-24. doi: 10.3109/13816819409056906. Ophthalmic Genet. 1994. PMID: 7953248

9

Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.

Barbi G, Rossier E, Vossbeck S, Hummler H, Lang D, Flock F, Terinde R, Wirth J, Vogel W, Kehrer-Sawatzki H. Barbi G, et al. J Med Genet. 2002 Feb;39(2):E6. doi: 10.1136/jmg.39.2.e6. J Med Genet. 2002. PMID: 11836375 Free PMC article. No abstract available.

10

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

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