Huynh MT - Search Results

1

Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.

Huynh MT, Nguyen TT, Grison S, Lascols O, Fernandez E, Barbu V. Huynh MT, et al. Rev Esp Enferm Dig. 2019 Oct;111(10):775-788. doi: 10.17235/reed.2019.6168/2019. Rev Esp Enferm Dig. 2019. PMID: 31538484 Free article.

2

Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants.

Huynh MT, Delaunay JL, Muller L, Corpechot C, Tran CT, Barbu V. Huynh MT, et al. Rev Esp Enferm Dig. 2019 Jan;111(1):76-79. doi: 10.17235/reed.2018.5828/2018. Rev Esp Enferm Dig. 2019. PMID: 30449124 Free article.

3

15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.

Huynh MT, Lambert AS, Tosca L, Petit F, Philippe C, Parisot F, Benoît V, Linglart A, Brisset S, Tran CT, Tachdjian G, Receveur A. Huynh MT, et al. Eur J Med Genet. 2018 Aug;61(8):459-464. doi: 10.1016/j.ejmg.2018.03.005. Epub 2018 Mar 14. Eur J Med Genet. 2018. PMID: 29549028

4

In vitro culture of Keratinocytes from human umbilical cord blood mesenchymal stem cells: the Saigonese culture.

Tran CT, Huynh DT, Gargiulo C, Nguyen PT, Tran TT, Huynh MT, Nguyen TT, Filgueira L, Strong DM. Tran CT, et al. Among authors: huynh dt, huynh mt. Cell Tissue Bank. 2011 May;12(2):125-33. doi: 10.1007/s10561-010-9174-8. Epub 2010 Mar 27. Cell Tissue Bank. 2011. PMID: 20349146

5

WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.

Huynh MT, Boudry-Labis E, Duban B, Andrieux J, Tran CT, Tampere H, Ceraso D, Manouvrier S, Tachdjian G, Roche-Lestienne C, Vincent-Delorme C. Huynh MT, et al. Am J Med Genet A. 2017 Jun;173(6):1690-1693. doi: 10.1002/ajmg.a.38206. Epub 2017 Apr 11. Am J Med Genet A. 2017. PMID: 28398607

6

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.

Huynh MT, Boudry-Labis E, Massard A, Thuillier C, Delobel B, Duban-Bedu B, Vincent-Delorme C. Huynh MT, et al. Eur J Hum Genet. 2018 Oct;26(10):1497-1501. doi: 10.1038/s41431-018-0165-8. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899371 Free PMC article.

7

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.

Huynh MT, Tosca L, Petit F, Martinovic J, Proust A, Bouligand J, Amiel J, Azria E, Parisot F, Benoit V, Receveur A, Drévillon L, Tachdjian G, Brisset S. Huynh MT, et al. Eur J Med Genet. 2018 Jun;61(6):322-328. doi: 10.1016/j.ejmg.2018.01.009. Epub 2018 Feb 3. Eur J Med Genet. 2018. PMID: 29366875

8

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.

Bui TPH, Nguyen NT, Ngo VD, Nguyen HN, Ly TTH, Do HD, Huynh MT. Bui TPH, et al. Among authors: huynh mt. BMC Med Genet. 2020 Jan 30;21(1):18. doi: 10.1186/s12881-020-0962-0. BMC Med Genet. 2020. PMID: 32000717 Free PMC article.

9

Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report.

Huynh MT, Tran CT, Joubert M, Bénéteau C. Huynh MT, et al. Cytogenet Genome Res. 2021;161(8-9):445-448. doi: 10.1159/000518689. Epub 2021 Oct 15. Cytogenet Genome Res. 2021. PMID: 34818214

10

RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability.

Huynh MT, Béri-Dexheimer M, Bonnet C, Bronner M, Khan AA, Allou L, Philippe C, Vigneron J, Jonveaux P. Huynh MT, et al. Am J Med Genet A. 2012 Jul;158A(7):1782-4. doi: 10.1002/ajmg.a.35386. Epub 2012 May 29. Am J Med Genet A. 2012. PMID: 22644616 No abstract available.

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