Abeliovich D - Search Results

1

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I. Raas-Rothschild A, et al. Among authors: abeliovich d. Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. doi: 10.1016/j.ejmg.2009.03.011. Epub 2009 Mar 26. Eur J Med Genet. 2009. PMID: 19328248 Review.

2

t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring.

Abeliovich D, Dagan J, Lerer I, Silberstein S, Katznelson MB, Frydman M. Abeliovich D, et al. Am J Med Genet. 1996 Dec 2;66(1):45-51. doi: 10.1002/(SICI)1096-8628(19961202)66:1<45::AID-AJMG10>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8957510

3

Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females.

Abeliovich D, Dagan J, Kimchi-Sarfaty C, Zlotogora J. Abeliovich D, et al. Am J Med Genet. 1995 Jan 30;55(3):359-62. doi: 10.1002/ajmg.1320550322. Am J Med Genet. 1995. PMID: 7726237

4

Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes.

Abeliovich D, Dagan J, Werner M, Lerer I, Shapira Y, Meiner V. Abeliovich D, et al. Eur J Hum Genet. 1995;3(1):49-55. doi: 10.1159/000472273. Eur J Hum Genet. 1995. PMID: 7767656

5

Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms.

Lerer I, Meiner V, Pashut-Lavon I, Abeliovich D. Lerer I, et al. Among authors: abeliovich d. Am J Med Genet. 1994 Aug 1;52(1):79-84. doi: 10.1002/ajmg.1320520116. Am J Med Genet. 1994. PMID: 7977468

6

Isochromosome 18p in a mother and her child.

Abeliovich D, Dagan J, Levy A, Steinberg A, Zlotogora J. Abeliovich D, et al. Am J Med Genet. 1993 Jun 1;46(4):392-3. doi: 10.1002/ajmg.1320460409. Am J Med Genet. 1993. PMID: 8357009

7

Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin.

Arthur EI, Zlotogora J, Lerer I, Dagan J, Marks K, Abeliovich D. Arthur EI, et al. Among authors: abeliovich d. Eur J Hum Genet. 1997 Nov-Dec;5(6):417-9. Eur J Hum Genet. 1997. PMID: 9450188

8

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D. Lerer I, et al. Among authors: abeliovich d. Am J Med Genet. 2000 Nov 6;95(1):53-6. doi: 10.1002/1096-8628(20001106)95:1<53::aid-ajmg11>3.0.co;2-2. Am J Med Genet. 2000. PMID: 11074495

9

The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population.

Silverstein S, Lerer I, Buiting K, Abeliovich D. Silverstein S, et al. Among authors: abeliovich d. Am J Hum Genet. 2001 Jan;68(1):261-3. doi: 10.1086/316943. Epub 2000 Nov 17. Am J Hum Genet. 2001. PMID: 11083946 Free PMC article.

10

Cystic fibrosis mutations delta F508 and G542X in Jewish patients.

Lerer I, Sagi M, Cutting GR, Abeliovich D. Lerer I, et al. Among authors: abeliovich d. J Med Genet. 1992 Feb;29(2):131-3. doi: 10.1136/jmg.29.2.131. J Med Genet. 1992. PMID: 1377276 Free PMC article.

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