162 related articles for article (PubMed ID: 38397245)
41. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K; Lazar HP; Kurolap A; Martinez AF; Paperna T; Cohen L; Smeland MF; Whalen S; Heide S; Keren B; Terhal P; Irving M; Takaku M; Roberts JD; Petrovich RM; Schrier Vergano SA; Kenney A; Hove H; DeChene E; Quinonez SC; Colin E; Ziegler A; Rumple M; Jain M; Monteil D; Roeder ER; Nugent K; van Haeringen A; Gambello M; Santani A; Medne L; Krock B; Skraban CM; Zackai EH; Dubbs HA; Smol T; Ghoumid J; Parker MJ; Wright M; Turnpenny P; Clayton-Smith J; Metcalfe K; Kurumizaka H; Gelb BD; Baris Feldman H; Campeau PM; Muenke M; Wade PA; Lachlan K
Genet Med; 2020 Feb; 22(2):389-397. PubMed ID: 31388190
[TBL] [Abstract][Full Text] [Related]
42. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Aoi H; Mizuguchi T; Ceroni JR; Kim VEH; Furquim I; Honjo RS; Iwaki T; Suzuki T; Sekiguchi F; Uchiyama Y; Azuma Y; Hamanaka K; Koshimizu E; Miyatake S; Mitsuhashi S; Takata A; Miyake N; Takeda S; Itakura A; Bertola DR; Kim CA; Matsumoto N
J Hum Genet; 2019 Oct; 64(10):967-978. PubMed ID: 31337854
[TBL] [Abstract][Full Text] [Related]
43. Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
Haynes D; Pollack L; Prasad C; Goobie S; Colaiacovo S; Wolfinger T; Lacassie Y
Am J Med Genet A; 2020 Jul; 182(7):1785-1790. PubMed ID: 32324310
[TBL] [Abstract][Full Text] [Related]
44. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E; Blanco-Kelly F; Lopez-Grondona F; Swafiri ST; Lopez-Rodriguez R; Losada-Del Pozo R; Mahillo-Fernandez I; Moreno B; Rodrigo-Moreno M; Casas-Alba D; Lopez-Gonzalez A; García-Miñaúr S; Ángeles Mori M; Pacio-Minguez M; Rikeros-Orozco E; Santos-Simarro F; Cruz-Rojo J; Quesada-Espinosa JF; Sanchez-Calvin MT; Sanchez-Del Pozo J; Bernado Fonz R; Isidoro-Garcia M; Ruiz-Ayucar I; Alvarez-Mora MI; Blanco-Lago R; De Azua B; Eiris J; Garcia-Peñas JJ; Gil-Fournier B; Gomez-Lado C; Irazabal N; Lopez-Gonzalez V; Madrigal I; Malaga I; Martinez-Menendez B; Ramiro-Leon S; Garcia-Hoyos M; Prieto-Matos P; Lopez-Pison J; Aguilera-Albesa S; Alvarez S; Fernández-Jaén A; Llano-Rivas I; Gener-Querol B; Ayuso C; Arteche-Lopez A; Palomares-Bralo M; Cueto-González A; Valenzuela I; Martinez-Monseny A; Lorda-Sanchez I; Almoguera B
J Med Genet; 2023 Jul; 60(7):644-654. PubMed ID: 36446582
[TBL] [Abstract][Full Text] [Related]
45. Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.
Choi SA; Lee HS; Park TJ; Park S; Ko YJ; Kim SY; Lim BC; Kim KJ; Chae JH
Brain Dev; 2021 Oct; 43(9):912-918. PubMed ID: 34116881
[TBL] [Abstract][Full Text] [Related]
46. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C; D'Aco K; Araujo GC; Shannon N; ; Vernon H; Rahrig A; Monaghan KG; Niu Z; Vitazka P; Dodd J; Tang S; Manwaring L; Martir-Negron A; Schnur RE; Juusola J; Schroeder A; Pan V; Helbig KL; Friedman B; Shinawi M
J Med Genet; 2015 Nov; 52(11):754-61. PubMed ID: 26264232
[TBL] [Abstract][Full Text] [Related]
47. DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Meissner LE; Macnamara EF; D'Souza P; Yang J; Vezina G; ; Ferreira CR; Zein WM; Tifft CJ; Adams DR
Mol Genet Genomic Med; 2020 Dec; 8(12):e1544. PubMed ID: 33159716
[TBL] [Abstract][Full Text] [Related]
48. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.
Manouvrier-Hanu S; Amiel J; Jacquot S; Merienne K; Moerman A; Coëslier A; Labarriere F; Vallée L; Croquette MF; Hanauer A
J Med Genet; 1999 Oct; 36(10):775-8. PubMed ID: 10528858
[TBL] [Abstract][Full Text] [Related]
49. Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism.
Zollino M; Doronzio PN
J Hum Genet; 2018 Aug; 63(8):859-861. PubMed ID: 29884796
[No Abstract] [Full Text] [Related]
50. Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report.
Matis T; Michaud V; Van-Gils J; Raclet V; Plaisant C; Fergelot P; Lasseaux E; Arveiler B; Trimouille A
J Gene Med; 2020 Aug; 22(8):e3197. PubMed ID: 32246869
[TBL] [Abstract][Full Text] [Related]
51. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Vera G; Sorlin A; Delplancq G; Lecoquierre F; Brasseur-Daudruy M; Petit F; Smol T; Ziegler A; Bonneau D; Colin E; Mercier S; Cogné B; Bézieau S; Edery P; Lesca G; Chatron N; Sabatier I; Duban-Bedu B; Colson C; Piton A; Durand B; Capri Y; Perrin L; Wiesener A; Zweier C; Maroofian R; Carroll CJ; Galehdari H; Mazaheri N; Callewaert B; Giulianno F; Zaafrane-Khachnaoui K; Buchert-Lo R; Haack T; Magg J; Rieß A; Blandfort M; Waldmüller S; Horber V; Leonardi E; Polli R; Turolla L; Murgia A; Frebourg T; Lebre AS; Nicolas G; Saugier-Veber P; Guerrot AM
Eur J Med Genet; 2020 Oct; 63(10):104004. PubMed ID: 32688057
[TBL] [Abstract][Full Text] [Related]
52. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Fan Y; Yin W; Hu B; Kline AD; Zhang VW; Liang D; Sun Y; Wang L; Tang S; Powis Z; Li L; Yan H; Shi Z; Yang X; Chen Y; Wang J; Jiang Y; Tan H; Gu X; Wu L; Yu Y
Am J Hum Genet; 2018 Sep; 103(3):448-455. PubMed ID: 30122539
[TBL] [Abstract][Full Text] [Related]
53. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
Strom SP; Lozano R; Lee H; Dorrani N; Mann J; O'Lague PF; Mans N; Deignan JL; Vilain E; Nelson SF; Grody WW; Quintero-Rivera F
BMC Med Genet; 2014 May; 15():49. PubMed ID: 24886118
[TBL] [Abstract][Full Text] [Related]
54. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J; Maddirevula S; Nampoothiri S; Burke JD; Herzog M; Shukla A; Steindl K; Eskin A; Patil SJ; Joset P; Lee H; Garrett LJ; Yokoyama T; Balanda N; Bodine SP; Tolman NJ; Zerfas PM; Zheng A; Ramantani G; Girisha KM; Rivas C; Suresh PV; Elkahloun A; Alsaif HS; Wakil SM; Mahmoud L; Ali R; Prochazkova M; ; Kulkarni AB; Ben-Omran T; Colak D; Morris HD; Rauch A; Martinez-Agosto JA; Nelson SF; Alkuraya FS; Gahl WA; Malicdan MCV
Am J Hum Genet; 2018 Dec; 103(6):948-967. PubMed ID: 30526868
[TBL] [Abstract][Full Text] [Related]
55. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.
Wijnen IGM; Veenstra-Knol HE; Vansenne F; Gerkes EH; de Koning T; Vos YJ; Tijssen MAJ; Sival D; Darin N; Vanhoutte EK; Oosterloo M; Pennings M; van de Warrenburg BP; Kamsteeg EJ
Eur J Hum Genet; 2020 Jun; 28(6):763-769. PubMed ID: 32157189
[TBL] [Abstract][Full Text] [Related]
56. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
Gold WA; Sobreira N; Wiame E; Marbaix A; Van Schaftingen E; Franzka P; Riley LG; Worgan L; Hübner CA; Christodoulou J; Adès LC
Am J Med Genet A; 2017 Aug; 173(8):2246-2250. PubMed ID: 28574218
[TBL] [Abstract][Full Text] [Related]
57. A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
Yasin H; Gibson WT; Langlois S; Stowe RM; Tsang ES; Lee L; Poon J; Tran G; Tyson C; Wong CK; Marra MA; Friedman JM; Zahir FR
J Hum Genet; 2019 Apr; 64(4):271-280. PubMed ID: 30670789
[TBL] [Abstract][Full Text] [Related]
58. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T; Petit F; Piton A; Keren B; Sanlaville D; Afenjar A; Baker S; Bedoukian EC; Bhoj EJ; Bonneau D; Boudry-Labis E; Bouquillon S; Boute-Benejean O; Caumes R; Chatron N; Colson C; Coubes C; Coutton C; Devillard F; Dieux-Coeslier A; Doco-Fenzy M; Ewans LJ; Faivre L; Fassi E; Field M; Fournier C; Francannet C; Genevieve D; Giurgea I; Goldenberg A; Green AK; Guerrot AM; Heron D; Isidor B; Keena BA; Krock BL; Kuentz P; Lapi E; Le Meur N; Lesca G; Li D; Marey I; Mignot C; Nava C; Nesbitt A; Nicolas G; Roche-Lestienne C; Roscioli T; Satre V; Santani A; Stefanova M; Steinwall Larsen S; Saugier-Veber P; Picker-Minh S; Thuillier C; Verloes A; Vieville G; Wenzel M; Willems M; Whalen S; Zarate YA; Ziegler A; Manouvrier-Hanu S; Kalscheuer VM; Gerard B; Ghoumid J
Neurogenetics; 2018 May; 19(2):93-103. PubMed ID: 29511999
[TBL] [Abstract][Full Text] [Related]
59. First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.
Danda S; Datar C; Kher A; Deshpande T; Thomas MM; Oommen SP
Am J Med Genet A; 2022 Aug; 188(8):2501-2504. PubMed ID: 35596688
[TBL] [Abstract][Full Text] [Related]
60. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW; Willemsen MH; de Munnik S; van Bon BW; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RL; Smeets EE; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJ; van Heumen CC; Yntema HG; Carels CE; Kleefstra T
Eur J Hum Genet; 2015 Sep; 23(9):1176-85. PubMed ID: 25424714
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
