Yntema HG - Search Results

1

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C; Solve-RD consortium. Yaldiz B, et al. Among authors: yntema hg. Hum Genomics. 2023 May 3;17(1):39. doi: 10.1186/s40246-023-00485-5. Hum Genomics. 2023. PMID: 37138343 Free PMC article.

2

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

Veltman JA, Yntema HG, Lugtenberg D, Arts H, Briault S, Huys EH, Osoegawa K, de Jong P, Brunner HG, Geurts van Kessel A, van Bokhoven H, Schoenmakers EF. Veltman JA, et al. Among authors: yntema hg. J Med Genet. 2004 Jun;41(6):425-32. doi: 10.1136/jmg.2004.018531. J Med Genet. 2004. PMID: 15173227 Free PMC article. No abstract available.

3

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.

Roifman M, Marcelis CL, Paton T, Marshall C, Silver R, Lohr JL, Yntema HG, Venselaar H, Kayserili H, van Bon B, Seaward G; FORGE Canada Consortium; Brunner HG, Chitayat D. Roifman M, et al. Among authors: yntema hg. Clin Genet. 2015;87(1):34-41. doi: 10.1111/cge.12401. Epub 2014 May 24. Clin Genet. 2015. PMID: 24716670

4

MECP2 is highly mutated in X-linked mental retardation.

Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andrès C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B. Couvert P, et al. Among authors: yntema hg. Hum Mol Genet. 2001 Apr 15;10(9):941-6. doi: 10.1093/hmg/10.9.941. Hum Mol Genet. 2001. PMID: 11309367

5

Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.

Houweling AC, de Mooij YM, van der Burgt I, Yntema HG, Lachmeijer AM, Go AT. Houweling AC, et al. Among authors: yntema hg. Prenat Diagn. 2010 Mar;30(3):284-6. doi: 10.1002/pd.2458. Prenat Diagn. 2010. PMID: 20112233 No abstract available.

6

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

Gomot M, Gendrot C, Verloes A, Raynaud M, David A, Yntema HG, Dessay S, Kalscheuer V, Frints S, Couvert P, Briault S, Blesson S, Toutain A, Chelly J, Desportes V, Moraine C. Gomot M, et al. Among authors: yntema hg. Am J Med Genet A. 2003 Dec 1;123A(2):129-39. doi: 10.1002/ajmg.a.20247. Am J Med Genet A. 2003. PMID: 14598336

7

A newborn with overlapping features of AEC and EEC syndromes.

Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M. Celik TH, et al. Among authors: yntema hg. Am J Med Genet A. 2011 Dec;155A(12):3100-3. doi: 10.1002/ajmg.a.34328. Epub 2011 Nov 7. Am J Med Genet A. 2011. PMID: 22065614

8

A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33.

Sismani C, Syrrou M, Christodoulou K, Hamel B, Chelly J, Yntema HG, van Bokhoven H, Tzoufi M, Georgiou I, Patsalis PC. Sismani C, et al. Among authors: yntema hg. Am J Med Genet A. 2003 Sep 15;122A(1):46-50. doi: 10.1002/ajmg.a.20284. Am J Med Genet A. 2003. PMID: 12949971

9

A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey.

Demir K, Yntema HG, Altincik A, Böber E. Demir K, et al. Among authors: yntema hg. Turk J Pediatr. 2010 May-Jun;52(3):321-4. Turk J Pediatr. 2010. PMID: 20718194

10

Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome.

Gómez García EB, Lobbes MB, van de Vijver K, Keymeulen K, van der Ent F, Yntema HG, Tjan-Heijnen VC, Boetes C. Gómez García EB, et al. Among authors: yntema hg. Case Rep Radiol. 2012;2012:638725. doi: 10.1155/2012/638725. Epub 2012 Jul 17. Case Rep Radiol. 2012. PMID: 22848856 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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

157 results

Search Page