Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

21 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quélin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean SD, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora-Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V. Lavillaureix A, et al. Among authors: akloul l. Genet Med. 2024 Mar 24;26(7):101126. doi: 10.1016/j.gim.2024.101126. Online ahead of print. Genet Med. 2024. PMID: 38529886 Free article.
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Neyroud AS, Rudinger-Thirion J, Frugier M, Riley LG, Bidet M, Akloul L, Simpson A, Gilot D, Christodoulou J, Ravel C, Sinclair AH, Belaud-Rotureau MA, Tucker EJ, Jaillard S. Neyroud AS, et al. Among authors: akloul l. Eur J Hum Genet. 2023 Apr;31(4):453-460. doi: 10.1038/s41431-022-01252-1. Epub 2022 Dec 1. Eur J Hum Genet. 2023. PMID: 36450801 Free PMC article.
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
Tucker EJ, Bell KM, Robevska G, van den Bergen J, Ayers KL, Listyasari N, Faradz SM, Dulon J, Bakhshalizadeh S, Sreenivasan R, Nouyou B, Carre W, Akloul L, Duros S, Domin-Bernhard M, Belaud-Rotureau MA, Touraine P, Jaillard S, Sinclair AH. Tucker EJ, et al. Among authors: akloul l. Eur J Hum Genet. 2022 Feb;30(2):219-228. doi: 10.1038/s41431-021-00977-9. Epub 2021 Oct 28. Eur J Hum Genet. 2022. PMID: 34707299 Free PMC article.
New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.
Jaillard S, Bell K, Akloul L, Walton K, McElreavy K, Stocker WA, Beaumont M, Harrisson C, Jääskeläinen T, Palvimo JJ, Robevska G, Launay E, Satié AP, Listyasari N, Bendavid C, Sreenivasan R, Duros S, van den Bergen J, Henry C, Domin-Bernhard M, Cornevin L, Dejucq-Rainsford N, Belaud-Rotureau MA, Odent S, Ayers KL, Ravel C, Tucker EJ, Sinclair AH. Jaillard S, et al. Among authors: akloul l. Maturitas. 2020 Nov;141:9-19. doi: 10.1016/j.maturitas.2020.06.004. Epub 2020 Jun 20. Maturitas. 2020. PMID: 33036707 Free article.
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Jaillard S, McElreavy K, Robevska G, Akloul L, Ghieh F, Sreenivasan R, Beaumont M, Bashamboo A, Bignon-Topalovic J, Neyroud AS, Bell K, Veron-Gastard E, Launay E, van den Bergen J, Nouyou B, Vialard F, Belaud-Rotureau MA, Ayers KL, Odent S, Ravel C, Tucker EJ, Sinclair AH. Jaillard S, et al. Among authors: akloul l. Mol Hum Reprod. 2020 Sep 1;26(9):665-677. doi: 10.1093/molehr/gaaa050. Mol Hum Reprod. 2020. PMID: 32634216 Free article.
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
Bordet C, Brice S, Maupain C, Gandjbakhch E, Isidor B, Palmyre A, Moerman A, Toutain A, Akloul L, Brehin AC, Sawka C, Rooryck-Thambo C, Schaefer E, Nguyen K, Dupin Deguine D, Rouzier C, Billy G, Séné K, Denjoy I, Leheup B, Planes M, Mazzella JM, Staraci S, Hebert M, Le Boette E, Michon CC, Babonneau ML, Curjol A, Bekhechi A, Mansouri R, Raji I, Pruny JF, Fressart V, Ader F, Richard P, Tezenas du Montcel S, Gargiulo M, Charron P. Bordet C, et al. Among authors: akloul l. J Clin Med. 2020 May 6;9(5):1365. doi: 10.3390/jcm9051365. J Clin Med. 2020. PMID: 32384747 Free PMC article.
Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.
Beaumont M, Tucker EJ, Mary L, Launay E, Lurton Y, Pimentel C, Rollier P, Akloul L, Beneteau C, Chevallier-Bordeau S, Neyroud AS, Pichon O, Ravel C, Odent S, Belaud-Rotureau MA, Jaillard S. Beaumont M, et al. Among authors: akloul l. Cytogenet Genome Res. 2019;159(4):201-207. doi: 10.1159/000504820. Epub 2019 Dec 20. Cytogenet Genome Res. 2019. PMID: 31865337
Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.
Jaillard S, Sreenivasan R, Beaumont M, Robevska G, Dubourg C, Knarston IM, Akloul L, van den Bergen J, Odent S, Croft B, Jouve G, Grover SR, Duros S, Pimentel C, Belaud-Rotureau MA, Ayers KL, Ravel C, Tucker EJ, Sinclair AH. Jaillard S, et al. Among authors: akloul l. Maturitas. 2020 Jan;131:78-86. doi: 10.1016/j.maturitas.2019.10.011. Epub 2019 Nov 9. Maturitas. 2020. PMID: 31787151
21 results