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Page 1
The different clinical facets of SYN1-related neurodevelopmental disorders.
Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, Afenjar A, Tabet AC, Levy J, Maruani A, Aledo-Serrano Á, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. Parenti I, et al. Among authors: afenjar a. Front Cell Dev Biol. 2022 Dec 8;10:1019715. doi: 10.3389/fcell.2022.1019715. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36568968 Free PMC article.
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
Dupré T, Vuillaumier-Barrot S, Chantret I, Sadou Yayé H, Le Bizec C, Afenjar A, Altuzarra C, Barnérias C, Burglen L, de Lonlay P, Feillet F, Napuri S, Seta N, Moore SE. Dupré T, et al. Among authors: afenjar a. J Med Genet. 2010 Nov;47(11):729-35. doi: 10.1136/jmg.2009.072504. Epub 2010 Aug 2. J Med Genet. 2010. PMID: 20679665 Free article.
Creatine and guanidinoacetate reference values in a French population.
Joncquel-Chevalier Curt M, Cheillan D, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Des Portes V, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Tardieu M, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Porchet N, Vianey-Saban C, Vamecq J. Joncquel-Chevalier Curt M, et al. Among authors: afenjar a. Mol Genet Metab. 2013 Nov;110(3):263-7. doi: 10.1016/j.ymgme.2013.09.005. Epub 2013 Sep 16. Mol Genet Metab. 2013. PMID: 24090707
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: afenjar a. Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. Am J Hum Genet. 2019. PMID: 30849329 Free PMC article. No abstract available.
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Brévière GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gérard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D. Raux G, et al. Among authors: afenjar a. Hum Mol Genet. 2007 Jan 1;16(1):83-91. doi: 10.1093/hmg/ddl443. Epub 2006 Nov 29. Hum Mol Genet. 2007. PMID: 17135275
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Møller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sá J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL; FORGE Canada Consortium; White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM. Nikkel SM, et al. Among authors: afenjar a. Orphanet J Rare Dis. 2013 Apr 27;8:63. doi: 10.1186/1750-1172-8-63. Orphanet J Rare Dis. 2013. PMID: 23621943 Free PMC article.
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E. Depienne C, et al. Among authors: afenjar a. PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13. PLoS Genet. 2009. PMID: 19214208 Free PMC article.
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C. Nava C, et al. Among authors: afenjar a. Transl Psychiatry. 2012 Oct 23;2(10):e179. doi: 10.1038/tp.2012.102. Transl Psychiatry. 2012. PMID: 23092983 Free PMC article.
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Nava C, Keren B, Mignot C, Rastetter A, Chantot-Bastaraud S, Faudet A, Fonteneau E, Amiet C, Laurent C, Jacquette A, Whalen S, Afenjar A, Périsse D, Doummar D, Dorison N, Leboyer M, Siffroi JP, Cohen D, Brice A, Héron D, Depienne C. Nava C, et al. Among authors: afenjar a. Eur J Hum Genet. 2014 Jan;22(1):71-8. doi: 10.1038/ejhg.2013.88. Epub 2013 May 1. Eur J Hum Genet. 2014. PMID: 23632794 Free PMC article.
147 results