Barbi G - Search Results

1

Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes.

Seyschab H, Schindler D, Friedl R, Barbi G, Boltshauser E, Fryns JP, Hanefeld F, Korinthenberg R, Krägeloh-Mann I, Scheres JM, et al. Seyschab H, et al. Among authors: barbi g. Eur J Pediatr. 1992 Oct;151(10):756-60. doi: 10.1007/BF01959085. Eur J Pediatr. 1992. PMID: 1425798

2

Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child.

Barbi G, Scheres JM, Schindler D, Taalman RD, Rodens K, Mehnert K, Müller M, Seyschab H. Barbi G, et al. Am J Med Genet. 1991 Jul 1;40(1):44-50. doi: 10.1002/ajmg.1320400109. Am J Med Genet. 1991. PMID: 1887849

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

Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia.

Serra A, Eirich K, Winkler AK, Mrasek K, Göhring G, Barbi G, Cario H, Schlegelberger B, Pokora B, Liehr T, Leriche C, Henne-Bruns D, Barth TF, Schindler D. Serra A, et al. Among authors: barbi g. Mol Syndromol. 2012 Sep;3(3):120-130. doi: 10.1159/000341935. Epub 2012 Aug 23. Mol Syndromol. 2012. PMID: 23112754 Free PMC article.

5

Dup(1q)(q42-->qter) syndrome: case report and review of literature.

Kennerknecht I, Barbi G, Rodens K. Kennerknecht I, et al. Among authors: barbi g. Am J Med Genet. 1993 Dec 1;47(8):1157-60. doi: 10.1002/ajmg.1320470805. Am J Med Genet. 1993. PMID: 7507296

6

False-negative findings in chorionic villus sampling. An experimental approach and review of the literature.

Kennerknecht I, Barbi G, Djalali M, Mehnert K, Schneider M, Terinde R, Vogel W. Kennerknecht I, et al. Among authors: barbi g. Prenat Diagn. 1998 Dec;18(12):1276-82. Prenat Diagn. 1998. PMID: 9885019 Review.

7

Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.

Barbi G, Kennerknecht I, Wöhr G, Avramopoulos D, Karadima G, Petersen MB. Barbi G, et al. Am J Med Genet. 2000 Mar 13;91(2):116-22. doi: 10.1002/(sici)1096-8628(20000313)91:2<116::aid-ajmg7>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10748409

8

How can the frequency of false-negative findings in prenatal diagnoses of fra(X) be reduced: experience with first trimester chorionic villi sampling.

Kennerknecht I, Barbi G, Dahl N, Steinbach P. Kennerknecht I, et al. Among authors: barbi g. Am J Med Genet. 1991 Feb-Mar;38(2-3):467-75. doi: 10.1002/ajmg.1320380266. Am J Med Genet. 1991. PMID: 2018088

9

Reciprocal translocation t(1;15)(p36.2;p11.2): confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p).

Barbi G, Kennerknecht I, Klett C. Barbi G, et al. Am J Med Genet. 1992 Jul 1;43(4):722-5. doi: 10.1002/ajmg.1320430414. Am J Med Genet. 1992. PMID: 1621764 Review.

10

Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: a new autosomal recessive syndrome.

Kennerknecht I, von Saurma P, Brenner R, Just W, Barbi G, Sorgo W, Heinze E, Wolf AS, Schneider V, Günther KP, et al. Kennerknecht I, et al. Among authors: barbi g. Am J Med Genet. 1995 Oct 23;59(1):62-7. doi: 10.1002/ajmg.1320590114. Am J Med Genet. 1995. PMID: 8849014

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