Böhm D - Search Results

1

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S. Lemke JR, et al. Among authors: bohm d. Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21. Epilepsia. 2012. PMID: 22612257 Free article.

2

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.

Unger S, Böhm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Böhm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J. Unger S, et al. Among authors: bohm j, bohm d. Nat Genet. 2008 Mar;40(3):287-9. doi: 10.1038/ng.86. Epub 2008 Feb 24. Nat Genet. 2008. PMID: 18297069

3

Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.

Borozdin W, Graham JM Jr, Böhm D, Bamshad MJ, Spranger S, Burke L, Leipoldt M, Kohlhase J. Borozdin W, et al. Among authors: bohm d. Hum Mutat. 2007 Aug;28(8):830. doi: 10.1002/humu.9502. Hum Mutat. 2007. PMID: 17623483

4

First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.

Meins M, Böhm D, Großmann A, Herting E, Fleckenstein B, Fauth C, Speicher MR, Schindler R, Zoll B, Bartels I, Burfeind P. Meins M, et al. Among authors: bohm d. Am J Med Genet A. 2004 May 15;127A(1):58-64. doi: 10.1002/ajmg.a.20644. Am J Med Genet A. 2004. PMID: 15103719

5

A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis.

Trappe R, Böhm D, Kohlhase J, Weise A, Liehr T, Essers G, Meins M, Zoll B, Bartels I, Burfeind P. Trappe R, et al. Among authors: bohm d. Cytogenet Genome Res. 2002;98(1):1-8. doi: 10.1159/000068533. Cytogenet Genome Res. 2002. PMID: 12584434 Review.

6

Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.

Sauter SM, Böhm D, Bartels I, Burfeind P, Laccone FA, Neesen J, Wilken B, Liehr T, Zoll B. Sauter SM, et al. Among authors: bohm d. Am J Med Genet A. 2007 May 15;143A(10):1091-9. doi: 10.1002/ajmg.a.31686. Am J Med Genet A. 2007. PMID: 17431920

7

Isolation and characterization of differentially expressed genes in invasive and non-invasive immortalized murine male germ cells in vitro.

Tascou S, Nayernia K, Uedelhoven J, Böhm D, Jalal R, Ahmed M, Engel W, Burfeind P. Tascou S, et al. Among authors: bohm d. Int J Oncol. 2001 Mar;18(3):567-74. Int J Oncol. 2001. PMID: 11179488

8

Disruption of PLC-beta 1-mediated signal transduction in mutant mice causes age-dependent hippocampal mossy fiber sprouting and neurodegeneration.

Böhm D, Schwegler H, Kotthaus L, Nayernia K, Rickmann M, Köhler M, Rosenbusch J, Engel W, Flügge G, Burfeind P. Böhm D, et al. Mol Cell Neurosci. 2002 Dec;21(4):584-601. doi: 10.1006/mcne.2002.1199. Mol Cell Neurosci. 2002. PMID: 12504592

9

Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients.

Siggberg L, Ala-Mello S, Jaakkola E, Kuusinen E, Schuit R, Kohlhase J, Böhm D, Ignatius J, Knuutila S. Siggberg L, et al. Among authors: bohm d. Am J Med Genet A. 2010 Jun;152A(6):1398-410. doi: 10.1002/ajmg.a.33402. Am J Med Genet A. 2010. PMID: 20503314

10

Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia.

Fischer S, Kohlhase J, Böhm D, Schweiger B, Hoffmann D, Heitmann M, Horsthemke B, Wieczorek D. Fischer S, et al. Among authors: bohm d. J Med Genet. 2008 Nov;45(11):731-7. doi: 10.1136/jmg.2008.059451. Epub 2008 Jul 8. J Med Genet. 2008. PMID: 18611983

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