Baumer A - Search Results

1

The clinical significance of small copy number variants in neurodevelopmental disorders.

Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A. Asadollahi R, et al. Among authors: baumer a. J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8. J Med Genet. 2014. PMID: 25106414 Free PMC article.

2

Meiotic origin of two ring chromosomes 18 in a girl with developmental delay.

Baumer A, Giovannucci Uzielli ML, Guarducci S, Lapi E, Röthlisberger B, Schinzel A. Baumer A, et al. Am J Med Genet. 2002 Nov 15;113(1):101-4. doi: 10.1002/ajmg.10700. Am J Med Genet. 2002. PMID: 12400074

3

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.

Wey E, Bartholdi D, Riegel M, Nazlican H, Horsthemke B, Schinzel A, Baumer A. Wey E, et al. Among authors: baumer a. Eur J Hum Genet. 2005 Mar;13(3):273-7. doi: 10.1038/sj.ejhg.5201337. Eur J Hum Genet. 2005. PMID: 15578038

4

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.

Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Mátyás G. Bartholdi D, et al. Among authors: baumer a. Clin Genet. 2006 Apr;69(4):319-26. doi: 10.1111/j.1399-0004.2006.00604.x. Clin Genet. 2006. PMID: 16630165

5

Pre- and postnatal findings in trisomy 17 mosaicism.

Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D. Utermann B, et al. Among authors: baumer a. Am J Med Genet A. 2006 Aug 1;140(15):1628-36. doi: 10.1002/ajmg.a.31319. Am J Med Genet A. 2006. PMID: 16802327

6

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A. Bartholdi D, et al. Among authors: baumer a. J Med Genet. 2009 Mar;46(3):192-7. doi: 10.1136/jmg.2008.061820. Epub 2008 Dec 9. J Med Genet. 2009. PMID: 19066168 Free article.

7

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).

Templin C, Ghadri JR, Rougier JS, Baumer A, Kaplan V, Albesa M, Sticht H, Rauch A, Puleo C, Hu D, Barajas-Martinez H, Antzelevitch C, Lüscher TF, Abriel H, Duru F. Templin C, et al. Among authors: baumer a. Eur Heart J. 2011 May;32(9):1077-88. doi: 10.1093/eurheartj/ehr076. Epub 2011 Mar 7. Eur Heart J. 2011. PMID: 21383000 Free PMC article.

8

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A. Asadollahi R, et al. Among authors: baumer a. Eur J Hum Genet. 2013 Oct;21(10):1100-4. doi: 10.1038/ejhg.2013.17. Epub 2013 Feb 13. Eur J Hum Genet. 2013. PMID: 23403903 Free PMC article.

9

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.

Bartholdi D, Asadollahi R, Oneda B, Schmitt-Mechelke T, Tonella P, Baumer A, Rauch A. Bartholdi D, et al. Among authors: baumer a. Am J Med Genet A. 2013 Aug;161A(8):1853-9. doi: 10.1002/ajmg.a.35994. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794250

10

Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.

Hackenberg A, Baumer A, Sticht H, Schmitt B, Kroell-Seger J, Wille D, Joset P, Papuc S, Rauch A, Plecko B. Hackenberg A, et al. Among authors: baumer a. Neuropediatrics. 2014 Aug;45(4):261-4. doi: 10.1055/s-0034-1372302. Epub 2014 Apr 7. Neuropediatrics. 2014. PMID: 24710820 Free article.

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