Holinski-Feder E - Search Results

1

Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.

Barseghyan H, Eisenreich D, Lindt E, Wendlandt M, Scharf F, Benet-Pages A, Sendelbach K, Neuhann T, Abicht A, Holinski-Feder E, Koehler U. Barseghyan H, et al. Among authors: holinski feder e. Genes (Basel). 2024 Mar 7;15(3):342. doi: 10.3390/genes15030342. Genes (Basel). 2024. PMID: 38540401 Free PMC article.

2

Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families.

Grabowski M, Mueller-Koch Y, Grasbon-Frodl E, Koehler U, Keller G, Vogelsang H, Dietmaier W, Kopp R, Siebers U, Schmitt W, Neitzel B, Gruber M, Doerner C, Kerker B, Ruemmele P, Henke G, Holinski-Feder E. Grabowski M, et al. Genet Test. 2005 Summer;9(2):138-46. doi: 10.1089/gte.2005.9.138. Genet Test. 2005. PMID: 15943554

3

A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.

Koehler U, Holinski-Feder E, Ertl-Wagner B, Kunz J, von Moers A, von Voss H, Schell-Apacik C. Koehler U, et al. Eur J Pediatr. 2010 Apr;169(4):463-8. doi: 10.1007/s00431-009-1057-2. Epub 2009 Sep 8. Eur J Pediatr. 2010. PMID: 19763616

4

Single cell analysis of mutations in the APC gene.

Mayer V, Schoen U, Holinski-Feder E, Koehler U, Thalhammer S. Mayer V, et al. Fetal Diagn Ther. 2009;26(3):148-56. doi: 10.1159/000248721. Epub 2009 Oct 13. Fetal Diagn Ther. 2009. PMID: 19828935

5

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Höchter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E; German HNPCC consortium. Morak M, et al. J Med Genet. 2011 Aug;48(8):513-9. doi: 10.1136/jmedgenet-2011-100050. Epub 2011 Jun 28. J Med Genet. 2011. PMID: 21712435 Free article.

6

Pregnancy and Birth After a Two-Step PGD: Polar Body Diagnosis for Hemophilia A and Array CGH on Trophectoderm Cells for Chromosomal Aberrations.

Würfel W, Suttner R, Shakeshaft D, Mayer V, Schoen U, Sendelbach K, Locher M, Koehler U, Fiedler K, Krüsmann G, Holinski-Feder E. Würfel W, et al. Geburtshilfe Frauenheilkd. 2013 Aug;73(8):812-814. doi: 10.1055/s-0033-1350705. Geburtshilfe Frauenheilkd. 2013. PMID: 24771936 Free PMC article.

7

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A, Holinski-Feder E, Augustis S. Schrank B, et al. Neuromuscul Disord. 2017 May;27(5):473-476. doi: 10.1016/j.nmd.2017.02.005. Epub 2017 Feb 14. Neuromuscul Disord. 2017. PMID: 28279569

8

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

Morak M, Käsbauer S, Kerscher M, Laner A, Nissen AM, Benet-Pagès A, Schackert HK, Keller G, Massdorf T, Holinski-Feder E. Morak M, et al. Fam Cancer. 2017 Oct;16(4):491-500. doi: 10.1007/s10689-017-9975-z. Fam Cancer. 2017. PMID: 28528517

9

Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation.

Morak M, Ibisler A, Keller G, Jessen E, Laner A, Gonzales-Fassrainer D, Locher M, Massdorf T, Nissen AM, Benet-Pagès A, Holinski-Feder E. Morak M, et al. J Med Genet. 2018 Apr;55(4):240-248. doi: 10.1136/jmedgenet-2017-104744. Epub 2018 Feb 22. J Med Genet. 2018. PMID: 29472279

10

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.

Abicht A, Scharf F, Kleinle S, Schön U, Holinski-Feder E, Horvath R, Benet-Pagès A, Diebold I. Abicht A, et al. Mol Genet Genomic Med. 2018 Nov;6(6):1188-1198. doi: 10.1002/mgg3.500. Epub 2018 Nov 8. Mol Genet Genomic Med. 2018. PMID: 30406974 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

223 results

Search Page

Filters