Böhm D - Search Results

1

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D; FORGE Canada Consortium; Majewski J, Bulman DE, Wieczorek D, Boycott KM. Lines MA, et al. Among authors: bohm d. Am J Hum Genet. 2012 Feb 10;90(2):369-77. doi: 10.1016/j.ajhg.2011.12.023. Epub 2012 Feb 2. Am J Hum Genet. 2012. PMID: 22305528 Free PMC article.

2

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

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

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.

Basel-Vanagaite L, Goldberg-Stern H, Mimouni-Bloch A, Shkalim V, Böhm D, Kohlhase J. Basel-Vanagaite L, et al. Among authors: bohm d. J Child Neurol. 2011 Jan;26(1):113-6. doi: 10.1177/0883073810377658. J Child Neurol. 2011. PMID: 21212457

5

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

6

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

7

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

8

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.

9

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

10

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

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