Lev D - Search Results

1

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.

Zerem A, Vinkler C, Michelson M, Leshinsky-Silver E, Lerman-Sagie T, Lev D. Zerem A, et al. Among authors: lev d. Am J Med Genet A. 2011 Dec;155A(12):2991-6. doi: 10.1002/ajmg.a.34316. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052843

2

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother.

Tanner SM, Orstavik KH, Kristiansen M, Lev D, Lerman-Sagie T, Sadeh M, Liechti-Gallati S. Tanner SM, et al. Among authors: lev d. Hum Genet. 1999 Mar;104(3):249-53. doi: 10.1007/s004390050943. Hum Genet. 1999. PMID: 10323249

3

Multiple presentation of mitochondrial disorders.

Nissenkorn A, Zeharia A, Lev D, Fatal-Valevski A, Barash V, Gutman A, Harel S, Lerman-Sagie T. Nissenkorn A, et al. Among authors: lev d. Arch Dis Child. 1999 Sep;81(3):209-14. doi: 10.1136/adc.81.3.209. Arch Dis Child. 1999. PMID: 10451392 Free PMC article.

4

Neurologic presentations of mitochondrial disorders.

Nissenkorn A, Zeharia A, Lev D, Watemberg N, Fattal-Valevski A, Barash V, Gutman A, Harel S, Lerman-Sagie T. Nissenkorn A, et al. Among authors: lev d. J Child Neurol. 2000 Jan;15(1):44-8. doi: 10.1177/088307380001500110. J Child Neurol. 2000. PMID: 10641610

5

Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue.

Aviram-Goldring A, Fritz B, Bartsch C, Steuber E, Daniely M, Lev D, Chaki R, Barkai G, Frydman M, Rehder H. Aviram-Goldring A, et al. Among authors: lev d. Am J Med Genet. 2000 Mar 6;91(1):74-82. doi: 10.1002/(sici)1096-8628(20000306)91:1<74::aid-ajmg14>3.0.co;2-o. Am J Med Genet. 2000. PMID: 10751094 Review.

6

Progressive neurological deterioration in a child with distal arthrogryposis and whistling face.

Lev D, Yanoov M, Weintraub S, Lerman-Sagie T. Lev D, et al. J Med Genet. 2000 Mar;37(3):231-3. doi: 10.1136/jmg.37.3.231. J Med Genet. 2000. PMID: 10777369 Free PMC article. No abstract available.

7

Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder.

Haftel LT, Lev D, Barash V, Gutman A, Bujanover Y, Lerman-Sagie T. Haftel LT, et al. Among authors: lev d. J Child Neurol. 2000 Jun;15(6):386-9. doi: 10.1177/088307380001500606. J Child Neurol. 2000. PMID: 10868781

8

[Mitochondrial diseases: molecular genetics and clinical applications].

Leshinsky-Silver E, Lev D, Lerman-Sagie T. Leshinsky-Silver E, et al. Among authors: lev d. Harefuah. 2000 Feb 1;138(3):220-9. Harefuah. 2000. PMID: 10883098 Review. Hebrew. No abstract available.

9

CHARGE association in a child with de Novo chromosomal aberration 46, X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping.

Lev D, Nakar O, Bar-Am I, Zudik A, Watemberg N, Finkelstien S, Katzin N, Lerman-Sagie T. Lev D, et al. J Med Genet. 2000 Dec;37(12):E47. doi: 10.1136/jmg.37.12.e47. J Med Genet. 2000. PMID: 11106365 Free PMC article. No abstract available.

10

Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone.

Lerman-Sagie T, Rustin P, Lev D, Yanoov M, Leshinsky-Silver E, Sagie A, Ben-Gal T, Munnich A. Lerman-Sagie T, et al. Among authors: lev d. J Inherit Metab Dis. 2001 Feb;24(1):28-34. doi: 10.1023/a:1005642302316. J Inherit Metab Dis. 2001. PMID: 11286379

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