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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2008 1
2013 1
2014 2
2015 3
2016 2
2018 4
2019 1
2020 1
2021 1
2022 4
2023 1
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

20 results

Results by year

Filters applied: . Clear all
Page 1
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Schulze MB, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Among authors: kleinfinger p. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes.
Mossfield T, Soster E, Menezes M, Agenbag G, Dubois ML, Gekas J, Hardy T, Jurkowska M, Kleinfinger P, Loggenberg K, Marchili P, Sirica R; Global Expanded NIPT Consortium. Mossfield T, et al. Among authors: kleinfinger p. Front Genet. 2022 Aug 29;13:975987. doi: 10.3389/fgene.2022.975987. eCollection 2022. Front Genet. 2022. PMID: 36105088 Free PMC article.
Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study.
Monier I, Receveur A, Houfflin-Debarge V, Goua V, Castaigne V, Jouannic JM, Mousty E, Saliou AH, Bouchghoul H, Rousseau T, Valat AS, Groussolles M, Fuchs F, Benoist G, Degre S, Massardier J, Tsatsaris V, Kleinfinger P, Zeitlin J, Benachi A; French Federation of Fetal Medicine Centers. Monier I, et al. Among authors: kleinfinger p. Am J Obstet Gynecol. 2021 Dec;225(6):676.e1-676.e15. doi: 10.1016/j.ajog.2021.05.035. Epub 2021 May 29. Am J Obstet Gynecol. 2021. PMID: 34058167
C5orf42 is the major gene responsible for OFD syndrome type VI.
Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T. Lopez E, et al. Among authors: kleinfinger p. Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1. Hum Genet. 2014. PMID: 24178751
Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
Kleinfinger P, Lohmann L, Luscan A, Trost D, Bidat L, Debarge V, Castaigne V, Senat MV, Brechard MP, Guilbaud L, Le Guyader G, Satre V, Laurichesse Delmas H, Lallaoui H, Manca-Pellissier MC, Boughalem A, Valduga M, Hodeib F, Benachi A, Costa JM. Kleinfinger P, et al. J Clin Med. 2020 Aug 1;9(8):2466. doi: 10.3390/jcm9082466. J Clin Med. 2020. PMID: 32752152 Free PMC article.
20 results