Huynh MT - Search Results

1

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Courdier C, et al. Among authors: huynh mt. Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23. Prenat Diagn. 2023. PMID: 36914926 Free article.

2

Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.

Huynh MT, Gérard M, Ranguin K, Pichon O, Ghesh L, Alfallaj K, Joubert M, Bézieau S, Bénéteau C. Huynh MT, et al. Neurogenetics. 2021 Jul;22(3):195-206. doi: 10.1007/s10048-021-00653-6. Epub 2021 Jun 16. Neurogenetics. 2021. PMID: 34132911

3

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

4

Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report.

Huynh MT, Degre S, Joly-Helas G, Bréon C, Potel S, Chambon P, Bouligand J, Layet V. Huynh MT, et al. Am J Med Genet A. 2022 Dec;188(12):3550-3554. doi: 10.1002/ajmg.a.62973. Epub 2022 Sep 21. Am J Med Genet A. 2022. PMID: 36129367

5

Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome.

Huynh MT, Riteau AS, Moradkhani K, Pichon O, Richard S, Joubert M, Bézieau S. Huynh MT, et al. Eur J Med Genet. 2021 Jan;64(1):104118. doi: 10.1016/j.ejmg.2020.104118. Epub 2020 Nov 26. Eur J Med Genet. 2021. PMID: 33248287

6

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

7

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.

8

Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature.

Huynh MT, Landais E, Agathe JS, Panchout A, Caroline VB, Bruel H. Huynh MT, et al. Mol Genet Metab Rep. 2023 Feb 6;34:100959. doi: 10.1016/j.ymgmr.2023.100959. eCollection 2023 Mar. Mol Genet Metab Rep. 2023. PMID: 36817643 Free PMC article.

9

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

10

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.

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

61 results

Search Page

Filters