Baumer A - Search Results

1

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.

Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmüller J, Nürnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lütjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, Betz RC. Romano MT, et al. Among authors: baumer a. Am J Hum Genet. 2018 Nov 1;103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401459 Free PMC article.

2

A 5-year-old girl with interstitial deletion of 3p14: clinical, psychologic, cytogenetic, and molecular studies.

Schinzel A, Gundelfinger R, Dutly F, Baumer A, Binkert F. Schinzel A, et al. Among authors: baumer a. Am J Med Genet. 1998 May 26;77(4):302-5. Am J Med Genet. 1998. PMID: 9600740

3

An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.

Baumer A, Belli S, Trüeb RM, Schinzel A. Baumer A, et al. Eur J Hum Genet. 2000 Jun;8(6):443-8. doi: 10.1038/sj.ejhg.5200506. Eur J Hum Genet. 2000. PMID: 10878665

4

New mutations in the ataxia telangiectasia gene.

Baumer A, Bernthaler U, Wolz W, Hoehn H, Schindler D. Baumer A, et al. Hum Genet. 1996 Aug;98(2):246-9. doi: 10.1007/s004390050202. Hum Genet. 1996. PMID: 8698354

5

Clinical and genetic heterogeneity in Meckel syndrome.

Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, Meusburger H, Tenconi R, Barnicoat A, Winter R, Peltonen L. Paavola P, et al. Among authors: baumer a. Hum Genet. 1997 Nov;101(1):88-92. doi: 10.1007/s004390050592. Hum Genet. 1997. PMID: 9385376

6

Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy.

Schinzel A, Kotzot D, Brecevic L, Robinson WP, Dutly F, Dauwerse H, Binkert F, Baumer A, Ausserer B. Schinzel A, et al. Among authors: baumer a. Eur J Hum Genet. 1997 Sep-Oct;5(5):308-14. Eur J Hum Genet. 1997. PMID: 9412788

7

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.

Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A. Dutly F, et al. Among authors: baumer a. Am J Med Genet. 1998 Oct 12;79(5):347-53. doi: 10.1002/(sici)1096-8628(19981012)79:5<347::aid-ajmg4>3.0.co;2-g. Am J Med Genet. 1998. PMID: 9779800

8

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation.

Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A. Dutly F, et al. Among authors: baumer a. Eur J Hum Genet. 1998 Mar-Apr;6(2):140-4. doi: 10.1038/sj.ejhg.5200168. Eur J Hum Genet. 1998. PMID: 9781058

9

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D. Sandoval N, et al. Among authors: baumer a. Hum Mol Genet. 1999 Jan;8(1):69-79. doi: 10.1093/hmg/8.1.69. Hum Mol Genet. 1999. PMID: 9887333

10

A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred.

Häfner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM. Häfner FM, et al. Among authors: baumer a. Am J Hum Genet. 2000 Apr;66(4):1437-42. doi: 10.1086/302865. Epub 2000 Mar 17. Am J Hum Genet. 2000. PMID: 10739769 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

230 results

Search Page

Filters