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147 results

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Page 1
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network; Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study; Petrovski S, Retterer K… See abstract for full author list ➔ Küry S, et al. Among authors: parent p. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003. Am J Hum Genet. 2017. PMID: 29100089 Free PMC article.
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. Poirier K, et al. Among authors: parent p. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Nat Genet. 2013. PMID: 23603762 Free PMC article.
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators. Micol R, et al. J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12. J Allergy Clin Immunol. 2011. PMID: 21665257
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Amyere M, et al. Among authors: parent p. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. Circulation. 2017. PMID: 28687708 Free article.
Fascin-1 expression is associated with neuroendocrine prostate cancer and directly suppressed by androgen receptor.
Turpin A, Delliaux C, Parent P, Chevalier H, Escudero-Iriarte C, Bonardi F, Vanpouille N, Flourens A, Querol J, Carnot A, Leroy X, Herranz N, Lanel T, Villers A, Olivier J, Touzet H, de Launoit Y, Tian TV, Duterque-Coquillaud M. Turpin A, et al. Among authors: parent p. Br J Cancer. 2023 Dec;129(12):1903-1914. doi: 10.1038/s41416-023-02449-x. Epub 2023 Oct 24. Br J Cancer. 2023. PMID: 37875732 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
BRAF + EGFR +/- MEK inhibitors after immune checkpoint inhibitors in BRAF V600E mutated and deficient mismatch repair or microsatellite instability high metastatic colorectal cancer.
Ambrosini M, Tougeron D, Modest D, Guimbaud R, Kopetz S, Decraecker M, Kim S, Coutzac C, Perkins G, Alouani E, Marmorino F, Pernot S, Sinicrope FA, Elez E, Parent P, Cremolini C, Pietrantonio F, Lonardi S, Gallois C, Taieb J. Ambrosini M, et al. Among authors: parent p. Eur J Cancer. 2024 Oct;210:114290. doi: 10.1016/j.ejca.2024.114290. Epub 2024 Aug 22. Eur J Cancer. 2024. PMID: 39216175
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His. Thauvin-Robinet C, et al. J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1. J Med Genet. 2013. PMID: 23378603
147 results