Neitzel H - Search Results

1

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.

Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O. Horn D, et al. Among authors: neitzel h. Am J Med Genet A. 2003 Mar 15;117A(3):236-44. doi: 10.1002/ajmg.a.10017. Am J Med Genet A. 2003. PMID: 12599186 Review.

2

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.

Neitzel H, Neumann LM, Schindler D, Wirges A, Tönnies H, Trimborn M, Krebsova A, Richter R, Sperling K. Neitzel H, et al. Am J Hum Genet. 2002 Apr;70(4):1015-22. doi: 10.1086/339518. Epub 2002 Feb 20. Am J Hum Genet. 2002. PMID: 11857108 Free PMC article.

3

Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.

Bürger J, Horn D, Tönnies H, Neitzel H, Reis A. Bürger J, et al. Among authors: neitzel h. Am J Med Genet. 2002 Aug 15;111(3):233-7. doi: 10.1002/ajmg.10498. Am J Med Genet. 2002. PMID: 12210318

4

Pigmentary mosaicism of the hyperpigmented type in two half-brothers.

Horn D, Happle R, Neitzel H, Kunze J. Horn D, et al. Among authors: neitzel h. Am J Med Genet. 2002 Sep 15;112(1):65-9. doi: 10.1002/ajmg.10600. Am J Med Genet. 2002. PMID: 12239723

5

Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor.

Tönnies H, Huber S, Kuhl JS, Gerlach A, Ebell W, Neitzel H. Tönnies H, et al. Among authors: neitzel h. Blood. 2003 May 15;101(10):3872-4. doi: 10.1182/blood-2002-10-3243. Epub 2003 Jan 2. Blood. 2003. PMID: 12511406 Free article.

6

A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

Seidel J, Heller A, Senger G, Starke H, Chudoba I, Kelbova C, Tönnies H, Neitzel H, Haase C, Beensen V, Zintl F, Claussen U, Liehr T. Seidel J, et al. Among authors: neitzel h. Eur J Pediatr. 2003 Sep;162(9):582-8. doi: 10.1007/s00431-003-1254-3. Epub 2003 Jun 19. Eur J Pediatr. 2003. PMID: 12819962 Review.

7

Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature.

Tönnies H, Neumann LM, Grüneberg B, Neitzel H. Tönnies H, et al. Among authors: neitzel h. Am J Med Genet A. 2003 Aug 30;121A(2):163-7. doi: 10.1002/ajmg.a.20225. Am J Med Genet A. 2003. PMID: 12910498

8

Genomic aberrations and survival in cutaneous T cell lymphomas.

Fischer TC, Gellrich S, Muche JM, Sherev T, Audring H, Neitzel H, Walden P, Sterry W, Tönnies H. Fischer TC, et al. Among authors: neitzel h. J Invest Dermatol. 2004 Mar;122(3):579-86. doi: 10.1111/j.0022-202X.2004.22301.x. J Invest Dermatol. 2004. PMID: 15086538 Free article.

9

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

Horn D, Tönnies H, Neitzel H, Wahl D, Hinkel GK, von Moers A, Bartsch O. Horn D, et al. Among authors: neitzel h. Am J Med Genet A. 2004 Jul 1;128A(1):85-92. doi: 10.1002/ajmg.a.30031. Am J Med Genet A. 2004. PMID: 15211664

10

Three new cases with a supernumerary ring chromosome 1.

Rodríguez L, Starke H, Guardia NM, Tönnies H, Neitzel H, Kozlowski P, Mazauric ML, Heller A, Grondona FL, Mansilla E, Santos Muñoz MJ, Liehr T, Martínez-Frías ML. Rodríguez L, et al. Among authors: neitzel h. Clin Dysmorphol. 2005 Oct;14(4):169-175. Clin Dysmorphol. 2005. PMID: 16155417

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