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Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant.
Pediatr Dev Pathol. 2022 Sep-Oct;25(5):548-552. doi: 10.1177/10935266221095305. Epub 2022 Apr 28.
Pediatr Dev Pathol. 2022.
PMID: 35481434
Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing.
Cospain A, Dubourg C, Gastineau S, Pichard S, Gandemer V, Bonneau J, de Tayrac M, Moreau C, Odent S, Pasquier L, Damaj L, Lavillaureix A.
Cospain A, et al.
Mol Genet Metab Rep. 2020 Jul 7;24:100621. doi: 10.1016/j.ymgmr.2020.100621. eCollection 2020 Sep.
Mol Genet Metab Rep. 2020.
PMID: 32670797
Free PMC article.
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Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Cospain A, Schaefer E, Faoucher M, Dubourg C, Carré W, Bizaoui V, Assoumani J, Van Maldergem L, Piton A, Gérard B, Tran Mau-Them F, Bruel AL, Faivre L, Demurger F, Pasquier L, Odent S, Fradin M, Lavillaureix A.
Cospain A, et al.
Clin Genet. 2021 May;99(5):732-739. doi: 10.1111/cge.13933. Epub 2021 Feb 8.
Clin Genet. 2021.
PMID: 33506510
Free article.
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Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report.
Rolland M, Dubourg C, Cospain A, Droitcourt C, Pasquier L.
Rolland M, et al. Among authors: cospain a.
Pediatr Dermatol. 2022 May;39(3):434-437. doi: 10.1111/pde.14969. Epub 2022 Mar 8.
Pediatr Dermatol. 2022.
PMID: 35258128
Free PMC article.
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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Cospain A, Rivera-Barahona A, Dumontet E, Gener B, Bailleul-Forestier I, Meyts I, Jouret G, Isidor B, Brewer C, Wuyts W, Moens L, Delafontaine S, Keung Lam WW, Van Den Bogaert K, Boogaerts A, Scalais E, Besnard T, Cogne B, Guissard C, Rollier P, Carre W, Bouvet R, Tarte K, Gómez-Carmona R, Lapunzina P, Odent S, Faoucher M, Dubourg C, Ruiz-Pérez VL, Devriendt K, Pasquier L, Pérez-Jurado LA.
Cospain A, et al.
Genet Med. 2022 Dec;24(12):2475-2486. doi: 10.1016/j.gim.2022.09.002. Epub 2022 Oct 4.
Genet Med. 2022.
PMID: 36197437
Free article.
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Mayer-Rokitansky-Küster-Hauser syndrome patients' interest, expectations and demands concerning uterus transplantation.
Sousa C, Carton I, Jaillard S, Cospain A, Lavillaureix A, Nyangoh Timoh K, Juricic M, Lavoué V, Dion L.
Sousa C, et al. Among authors: cospain a.
J Gynecol Obstet Hum Reprod. 2023 Dec;52(10):102674. doi: 10.1016/j.jogoh.2023.102674. Epub 2023 Oct 5.
J Gynecol Obstet Hum Reprod. 2023.
PMID: 37805077
Free article.
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Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D.
Ruault V, et al. Among authors: cospain a.
Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363.
Mol Genet Genomic Med. 2024.
PMID: 38284452
Free PMC article.
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