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

Year Number of Results
1978 1
1979 1
1981 1
1984 1
1988 2
1989 1
1990 2
1992 1
1993 3
1994 6
1995 5
1996 8
1997 6
1998 12
1999 4
2000 9
2001 3
2002 5
2003 6
2004 7
2005 17
2006 16
2007 9
2008 9
2009 19
2010 7
2011 9
2012 20
2013 13
2014 8
2015 10
2016 9
2017 3
2018 4
2020 1
2021 3
2022 2
2025 0

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216 results

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Page 1
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. Laquerriere A, et al. Among authors: delezoide al. J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820833 Free PMC article.
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
Denamur E, Delezoide AL, Alberti C, Bourillon A, Gubler MC, Bouvier R, Pascaud O, Elion J, Grandchamp B, Michel-Calemard L, Missy P, Zaccaria I, Le Nagard H, Gerard B, Loirat C; Société Française de Foetopathologie; Barbet J, Beaufrère AM, Berchel C, Bessières B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Espérandieu O, Fallet C, Gonzalès M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerrière A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Ménez F, Narcy F, Roux JJ, Rouleau-Dubois C, Sinico M, Tantau J, Wann AR. Denamur E, et al. Among authors: delezoide al. Kidney Int. 2010 Feb;77(4):350-8. doi: 10.1038/ki.2009.440. Epub 2009 Nov 25. Kidney Int. 2010. PMID: 19940839 Free article.
Osteocraniostenosis.
Verloes A, Narcy F, Grattagliano B, Delezoide AL, Guibaud P, Schaaps JP, Le Merrer M, Maroteaux P. Verloes A, et al. Among authors: delezoide al. J Med Genet. 1994 Oct;31(10):772-8. doi: 10.1136/jmg.31.10.772. J Med Genet. 1994. PMID: 7837254 Free PMC article.
[Ductus venosus agenesis].
Durakovic N, Azancot A, Eurin D, Menez F, Vuillard E, Garel C, Luton D, Delezoide AL. Durakovic N, et al. Among authors: delezoide al. Arch Mal Coeur Vaiss. 2005 May;98(5):542-8. Arch Mal Coeur Vaiss. 2005. PMID: 15966606 French.
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Nizon M, Henry M, Michot C, Baumann C, Bazin A, Bessières B, Blesson S, Cordier-Alex MP, David A, Delahaye-Duriez A, Delezoïde AL, Dieux-Coeslier A, Doco-Fenzy M, Faivre L, Goldenberg A, Layet V, Loget P, Marlin S, Martinovic J, Odent S, Pasquier L, Plessis G, Prieur F, Putoux A, Rio M, Testard H, Bonnefont JP, Cormier-Daire V. Nizon M, et al. Among authors: delezoide al. Clin Genet. 2016 May;89(5):584-9. doi: 10.1111/cge.12720. Epub 2016 Feb 3. Clin Genet. 2016. PMID: 26701315 Free article.
[Acardiac twins].
Pinet C, Colau JC, Delezoide AL, Menez F. Pinet C, et al. Among authors: delezoide al. J Gynecol Obstet Biol Reprod (Paris). 1994;23(1):85-92. J Gynecol Obstet Biol Reprod (Paris). 1994. PMID: 8157898 Review. French.
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
Huber C, Faqeih EA, Bartholdi D, Bole-Feysot C, Borochowitz Z, Cavalcanti DP, Frigo A, Nitschke P, Roume J, Santos HG, Shalev SA, Superti-Furga A, Delezoide AL, Le Merrer M, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: delezoide al. Am J Hum Genet. 2013 Jan 10;92(1):144-9. doi: 10.1016/j.ajhg.2012.11.015. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273569 Free PMC article.
216 results