Baumer A - Search Results

1

A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers.

Begemann A, Oneda B, Baumer A, Guldimann M, Tutschek B, Rauch A. Begemann A, et al. Among authors: baumer a. Eur J Med Genet. 2022 Dec;65(12):104628. doi: 10.1016/j.ejmg.2022.104628. Epub 2022 Sep 29. Eur J Med Genet. 2022. PMID: 36182037 Free article.

2

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.

3

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.

4

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

5

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.

6

High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.

Oneda B, Baldinger R, Reissmann R, Reshetnikova I, Krejci P, Masood R, Ochsenbein-Kölble N, Bartholdi D, Steindl K, Morotti D, Faranda M, Baumer A, Asadollahi R, Joset P, Niedrist D, Breymann C, Hebisch G, Hüsler M, Mueller R, Prentl E, Wisser J, Zimmermann R, Rauch A. Oneda B, et al. Among authors: baumer a. Prenat Diagn. 2014 Jun;34(6):525-33. doi: 10.1002/pd.4342. Epub 2014 Mar 21. Prenat Diagn. 2014. PMID: 24919595

7

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

Dieks JK, Baumer A, Wilichowski E, Rauch A, Sigler M. Dieks JK, et al. Among authors: baumer a. Eur J Pediatr. 2014 Sep;173(9):1253-6. doi: 10.1007/s00431-014-2368-5. Epub 2014 Jun 29. Eur J Pediatr. 2014. PMID: 24973050 Free article.

8

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.

9

N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

Abela L, Simmons L, Steindl K, Schmitt B, Mastrangelo M, Joset P, Papuc M, Sticht H, Baumer A, Crowther LM, Mathis D, Rauch A, Plecko B. Abela L, et al. Among authors: baumer a. J Inherit Metab Dis. 2016 Jan;39(1):131-7. doi: 10.1007/s10545-015-9876-y. Epub 2015 Jul 15. J Inherit Metab Dis. 2016. PMID: 26174906 Free article.

10

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A. Fauth C, et al. Among authors: baumer a. Am J Med Genet A. 2016 Feb;170A(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6. Am J Med Genet A. 2016. PMID: 26545172

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