Vengoechea J - Search Results

1

De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity.

Vengoechea J, Parikh AS, Zhang S, Tassone F. Vengoechea J, et al. Eur J Hum Genet. 2012 Nov;20(11):1197-200. doi: 10.1038/ejhg.2012.78. Epub 2012 May 2. Eur J Hum Genet. 2012. PMID: 22549406 Free PMC article.

2

Cholesterol and family history: when genetics matters.

Vengoechea J, McKelvey KD. Vengoechea J, et al. J Ark Med Soc. 2015 Feb;111(9):184-6. J Ark Med Soc. 2015. PMID: 25993767

3

Genetics and cardiovascular disease: the impact of molecular diagnosis.

Vengoechea J, McKelvey KD Jr. Vengoechea J, et al. J Ark Med Soc. 2013 Apr;109(11):230-2. J Ark Med Soc. 2013. PMID: 23691714

4

Germline mosaicism in Cornelia de Lange syndrome.

Slavin TP, Lazebnik N, Clark DM, Vengoechea J, Cohen L, Kaur M, Konczal L, Crowe CA, Corteville JE, Nowaczyk MJ, Byrne JL, Jackson LG, Krantz ID. Slavin TP, et al. Among authors: vengoechea j. Am J Med Genet A. 2012 Jun;158A(6):1481-5. doi: 10.1002/ajmg.a.35381. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581668 Free PMC article.

5

A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges.

Vengoechea J, Tallo C. Vengoechea J, et al. J Med Genet. 2017 Oct;54(10):682-684. doi: 10.1136/jmedgenet-2017-104690. Epub 2017 Jul 28. J Med Genet. 2017. PMID: 28754699 No abstract available.

6

Molecular subtypes of glioblastoma are relevant to lower grade glioma.

Guan X, Vengoechea J, Zheng S, Sloan AE, Chen Y, Brat DJ, O'Neill BP, de Groot J, Yust-Katz S, Yung WK, Cohen ML, Aldape KD, Rosenfeld S, Verhaak RG, Barnholtz-Sloan JS. Guan X, et al. Among authors: vengoechea j. PLoS One. 2014 Mar 10;9(3):e91216. doi: 10.1371/journal.pone.0091216. eCollection 2014. PLoS One. 2014. PMID: 24614622 Free PMC article.

7

Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome.

Lusk L, Black E, Vengoechea J. Lusk L, et al. Among authors: vengoechea j. J Med Genet. 2020 Feb;57(2):121-123. doi: 10.1136/jmedgenet-2018-105782. Epub 2019 Jul 30. J Med Genet. 2020. PMID: 31363008

8

In reply to "Mast Cell Disorders in Ehlers-Danlos Syndrome".

Vengoechea J. Vengoechea J. Am J Med Genet A. 2018 Jan;176(1):250. doi: 10.1002/ajmg.a.38518. Epub 2017 Nov 12. Am J Med Genet A. 2018. PMID: 29130629 No abstract available.

9

A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant.

Vengoechea J, DiMonda J. Vengoechea J, et al. Am J Med Genet A. 2020 Jun;182(6):1535-1536. doi: 10.1002/ajmg.a.61556. Epub 2020 Mar 23. Am J Med Genet A. 2020. PMID: 32202700 No abstract available.

10

Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.

Gonzalez A, Kapur S, Walsh M, Vengoechea J. Gonzalez A, et al. Among authors: vengoechea j. Am J Med Genet A. 2021 Aug;185(8):2582-2585. doi: 10.1002/ajmg.a.62233. Epub 2021 Apr 29. Am J Med Genet A. 2021. PMID: 33913598 No abstract available.

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

51 results

Search Page

Filters