121 related articles for article (PubMed ID: 37067385)
1. Novel mosaic TRAF7 likely pathogenic variant in an African American family.
Colleran JA; Daykin EC; Hernandez C; Ray J; Morand M
Am J Med Genet A; 2023 Jul; 191(7):1990-1993. PubMed ID: 37067385
[TBL] [Abstract][Full Text] [Related]
2. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita MJ; Chen CA; Chitayat D; Macnamara E; Rosenfeld JA; Hanchard N; Lewis AM; Brown CW; Marom R; Shao Y; Novacic D; Wolfe L; Wahl C; Tifft CJ; Toro C; Bernstein JA; Hale CL; Silver J; Hudgins L; Ananth A; Hanson-Kahn A; Shuster S; ; Magoulas PL; Patel VN; Zhu W; Chen SM; Jiang Y; Liu P; Eng CM; Batkovskyte D; di Ronza A; Sardiello M; Lee BH; Schaaf CP; Yang Y; Wang X
Am J Hum Genet; 2018 Jul; 103(1):154-162. PubMed ID: 29961569
[TBL] [Abstract][Full Text] [Related]
3. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Palma-Milla C; Prat-Planas A; Soengas-Gonda E; Centeno-Pla M; Sánchez-Pozo J; Lazaro-Rodriguez I; Quesada-Espinosa JF; Arteche-Lopez A; Olival J; Pacio-Miguez M; Palomares-Bralo M; Santos-Simarro F; Cancho-Candela R; Vázquez-López M; Seidel V; Martinez-Monseny AF; Casas-Alba D; Grinberg D; Balcells S; Serrano M; Rabionet R; Martin MA; Urreizti R
Pediatr Neurol; 2024 Jun; 155():8-17. PubMed ID: 38569228
[TBL] [Abstract][Full Text] [Related]
4. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Castilla-Vallmanya L; Selmer KK; Dimartino C; Rabionet R; Blanco-Sánchez B; Yang S; Reijnders MRF; van Essen AJ; Oufadem M; Vigeland MD; Stadheim B; Houge G; Cox H; Kingston H; Clayton-Smith J; Innis JW; Iascone M; Cereda A; Gabbiadini S; Chung WK; Sanders V; Charrow J; Bryant E; Millichap J; Vitobello A; Thauvin C; Mau-Them FT; Faivre L; Lesca G; Labalme A; Rougeot C; Chatron N; Sanlaville D; Christensen KM; Kirby A; Lewandowski R; Gannaway R; Aly M; Lehman A; Clarke L; Graul-Neumann L; Zweier C; Lessel D; Lozic B; Aukrust I; Peretz R; Stratton R; Smol T; Dieux-Coëslier A; Meira J; Wohler E; Sobreira N; Beaver EM; Heeley J; Briere LC; High FA; Sweetser DA; Walker MA; Keegan CE; Jayakar P; Shinawi M; Kerstjens-Frederikse WS; Earl DL; Siu VM; Reesor E; Yao T; Hegele RA; Vaske OM; Rego S; ; Shapiro KA; Wong B; Gambello MJ; McDonald M; Karlowicz D; Colombo R; Serretti A; Pais L; O'Donnell-Luria A; Wray A; Sadedin S; Chong B; Tan TY; Christodoulou J; White SM; Slavotinek A; Barbouth D; Morel Swols D; Parisot M; Bole-Feysot C; Nitschké P; Pingault V; Munnich A; Cho MT; Cormier-Daire V; Balcells S; Lyonnet S; Grinberg D; Amiel J; Urreizti R; Gordon CT
Genet Med; 2020 Jul; 22(7):1215-1226. PubMed ID: 32376980
[TBL] [Abstract][Full Text] [Related]
5. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
[TBL] [Abstract][Full Text] [Related]
6. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
[TBL] [Abstract][Full Text] [Related]
7.
Kaidonis G; Pekmezci M; Van Ziffle J; Auguste KI; Horton JC
J Neurosurg Case Lessons; 2022 Jun; 3(23):CASE2247. PubMed ID: 35733823
[TBL] [Abstract][Full Text] [Related]
8. Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome.
Li Z; Du C; Zhang C; Zhang M; Ying Y; Liang Y; Luo X
Mol Genet Genomic Med; 2020 Mar; 8(3):e1120. PubMed ID: 31916397
[TBL] [Abstract][Full Text] [Related]
9. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Machol K; Rousseau J; Ehresmann S; Garcia T; Nguyen TTM; Spillmann RC; Sullivan JA; Shashi V; Jiang YH; Stong N; Fiala E; Willing M; Pfundt R; Kleefstra T; Cho MT; McLaughlin H; Rosello Piera M; Orellana C; Martínez F; Caro-Llopis A; Monfort S; Roscioli T; Nixon CY; Buckley MF; Turner A; Jones WD; van Hasselt PM; Hofstede FC; van Gassen KLI; Brooks AS; van Slegtenhorst MA; Lachlan K; Sebastian J; Madan-Khetarpal S; Sonal D; Sakkubai N; Thevenon J; Faivre L; Maurel A; Petrovski S; Krantz ID; Tarpinian JM; Rosenfeld JA; Lee BH; ; Campeau PM
Am J Hum Genet; 2019 Jan; 104(1):164-178. PubMed ID: 30580808
[TBL] [Abstract][Full Text] [Related]
10. U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy.
Kittock CM; Saifeddine M; Straight L; Ward DI
Am J Med Genet A; 2023 Jul; 191(7):1968-1972. PubMed ID: 37092751
[TBL] [Abstract][Full Text] [Related]
11. Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With
Paprocka J; Nowak M; Nieć M; Janik I; Rydzanicz M; Robert Ś; Klaniewska M; Rutkowska K; Płoski R; Jezela-Stanek A
Front Med (Lausanne); 2021; 8():708717. PubMed ID: 34513876
[TBL] [Abstract][Full Text] [Related]
12. A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
Lippa NC; Barua S; Aggarwal V; Pereira E; Bain JM
BMC Neurol; 2021 Sep; 21(1):358. PubMed ID: 34530748
[TBL] [Abstract][Full Text] [Related]
13. The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo
Kim KH; Han JY; Park J; Cho JS
Int J Mol Sci; 2024 Mar; 25(7):. PubMed ID: 38612512
[No Abstract] [Full Text] [Related]
14. Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.
Kose CC; Kaya D; Akcan MB; Silan F
Am J Med Genet A; 2023 Aug; 191(8):2209-2214. PubMed ID: 37190896
[TBL] [Abstract][Full Text] [Related]
15. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
Naoufal R; Legendre M; Couet D; Gilbert-Dussardier B; Kitzis A; Bilan F; Harbuz R
Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.
Vaughan CJ; Basson CT
Am J Med Genet; 2000; 97(4):304-9. PubMed ID: 11376442
[TBL] [Abstract][Full Text] [Related]
18. Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.
Accogli A; Scala M; Pavanello M; Severino M; Gandolfo C; De Marco P; Musacchia F; Torella A; Pinelli M; Nigro V; Capra V
Birth Defects Res; 2020 Aug; 112(14):1085-1092. PubMed ID: 32459067
[TBL] [Abstract][Full Text] [Related]
19. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
Smith JA; Holden KR; Friez MJ; Jones JR; Lyons MJ
Am J Med Genet A; 2016 Dec; 170(12):3313-3318. PubMed ID: 27570168
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
Slezak R; Smigiel R; Rydzanicz M; Pollak A; Kosinska J; Stawinski P; Malgorzata Sasiadek M; Ploski R
Mol Genet Genomic Med; 2020 Oct; 8(10):e1432. PubMed ID: 32705777
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
