These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India. Gupta N; Yadav S; Gurramkonda VB; Vl R; Sg T; Kabra M Eur J Med Genet; 2020 Mar; 63(3):103742. PubMed ID: 31421288 [TBL] [Abstract][Full Text] [Related]
3. Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome. Accogli A; Scala M; Calcagno A; Castello R; Torella A; Musacchia F; Allegri AME; Mancardi MM; Maghnie M; Severino M; ; Nigro V; Capra V Am J Med Genet A; 2018 Dec; 176(12):2835-2840. PubMed ID: 30238602 [TBL] [Abstract][Full Text] [Related]
5. A truncating variant in the THOC6 gene with new findings in a patient with Beaulieu-Boycott-Innes syndrome. Kiraz A; Tubaş F; Seber T Am J Med Genet A; 2022 May; 188(5):1568-1571. PubMed ID: 35084103 [TBL] [Abstract][Full Text] [Related]
6. Proteinuria in Two Sisters with Beaulieu-Boycott-Innes Syndrome, A Case Report. Hassanvand Amouzadeh M; Akhavan Sepahi M; Abasi E Iran J Kidney Dis; 2020 Jul; 14(4):312-314. PubMed ID: 32655027 [TBL] [Abstract][Full Text] [Related]
7. Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability. Mattioli F; Isidor B; Abdul-Rahman O; Gunter A; Huang L; Kumar R; Beaulieu C; Gecz J; Innes M; Mandel JL; Piton A Hum Mol Genet; 2019 Mar; 28(6):952-960. PubMed ID: 30476144 [TBL] [Abstract][Full Text] [Related]
8. Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature. Ruaud L; Roux N; Boutaud L; Bessières B; Ageorges F; Achaiaa A; Bole C; Nitschke P; Masson C; Vekemans M; Verloes A; Attie-Bitach T Birth Defects Res; 2022 Jun; 114(10):499-504. PubMed ID: 35426486 [TBL] [Abstract][Full Text] [Related]
9. The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant. Zhang Q; Chen S; Qin Z; Zheng H; Fan X Medicine (Baltimore); 2020 Apr; 99(15):e19751. PubMed ID: 32282736 [TBL] [Abstract][Full Text] [Related]
10. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. Luco SM; Pohl D; Sell E; Wagner JD; Dyment DA; Daoud H BMC Med Genet; 2016 Feb; 17():15. PubMed ID: 26922654 [TBL] [Abstract][Full Text] [Related]
15. SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. Szczałuba K; Brzezinska M; Kot J; Rydzanicz M; Walczak A; Stawiński P; Werner B; Płoski R Am J Med Genet A; 2016 Sep; 170(9):2322-7. PubMed ID: 27375234 [TBL] [Abstract][Full Text] [Related]
16. De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Isidor B; Küry S; Rosenfeld JA; Besnard T; Schmitt S; Joss S; Davies SJ; Lebel RR; Henderson A; Schaaf CP; Streff HE; Yang Y; Jain V; Chida N; Latypova X; Le Caignec C; Cogné B; Mercier S; Vincent M; Colin E; Bonneau D; Denommé AS; Parent P; Gilbert-Dussardier B; Odent S; Toutain A; Piton A; Dina C; Donnart A; Lindenbaum P; Charpentier E; Redon R; Iemura K; Ikeda M; Tanaka K; Bézieau S Hum Mutat; 2016 Apr; 37(4):354-8. PubMed ID: 26751395 [TBL] [Abstract][Full Text] [Related]
17. Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. Hollink IH; Alfadhel M; Al-Wakeel AS; Ababneh F; Pfundt R; de Man SA; Jamra RA; Rolfs A; Bertoli-Avella AM; van de Laar IM J Hum Genet; 2016 Mar; 61(3):229-33. PubMed ID: 26607181 [TBL] [Abstract][Full Text] [Related]
18. Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. Takenouchi T; Miura K; Uehara T; Mizuno S; Kosaki K Am J Med Genet A; 2016 Oct; 170(10):2587-90. PubMed ID: 27256762 [TBL] [Abstract][Full Text] [Related]
19. Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features. Smaili W; Elalaoui SC; Zrhidri A; Raymond L; Egéa G; Taoudi M; Mouatassim SEL; Sefiani A; Lyahyai J Eur J Med Genet; 2020 Jul; 63(7):103951. PubMed ID: 32439618 [TBL] [Abstract][Full Text] [Related]