193 related articles for article (PubMed ID: 28343629)
1. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Santiago-Sim T; Burrage LC; Ebstein F; Tokita MJ; Miller M; Bi W; Braxton AA; Rosenfeld JA; Shahrour M; Lehmann A; Cogné B; Küry S; Besnard T; Isidor B; Bézieau S; Hazart I; Nagakura H; Immken LL; Littlejohn RO; Roeder E; ; Kara B; Hardies K; Weckhuysen S; May P; Lemke JR; Elpeleg O; Abu-Libdeh B; James KN; Silhavy JL; Issa MY; Zaki MS; Gleeson JG; Seavitt JR; Dickinson ME; Ljungberg MC; Wells S; Johnson SJ; Teboul L; Eng CM; Yang Y; Kloetzel PM; Heaney JD; Walkiewicz MA
Am J Hum Genet; 2017 Apr; 100(4):676-688. PubMed ID: 28343629
[TBL] [Abstract][Full Text] [Related]
2. Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review.
Gangaram B; Lee V; Slavotinek A
Am J Med Genet A; 2024 Jul; 194(7):e63567. PubMed ID: 38389298
[TBL] [Abstract][Full Text] [Related]
3. Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case.
Romero-Ibarguengoitia ME; Cantú-Reyna C; Gutierrez-González D; Cruz-Camino H; González-Cantú A; Sanz Sánchez MA
J Investig Med High Impact Case Rep; 2020; 8():2324709620957777. PubMed ID: 32924626
[TBL] [Abstract][Full Text] [Related]
4. Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.
Cingöz S; Soydemir D; Öner TÖ; Karaca E; Özden B; Kurul SH; Bayram E; ; Coe BP; Nickerson DA; Eichler EE
Eur J Med Genet; 2022 Jun; 65(6):104497. PubMed ID: 35430327
[TBL] [Abstract][Full Text] [Related]
5. OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
Abdel-Salam GMH; Abdel-Hamid MS; Sayed ISM; Zechner U; Bolz HJ
J Hum Genet; 2022 Jan; 67(1):55-64. PubMed ID: 34354232
[TBL] [Abstract][Full Text] [Related]
6. First Replication of the Involvement of
Straniero L; Rimoldi V; Soldà G; Bellini M; Biasucci G; Asselta R; Duga S
Front Genet; 2018; 9():464. PubMed ID: 30364145
[TBL] [Abstract][Full Text] [Related]
7. [First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene].
Sánchez-Soler MJ; Serrano-Antón AT; López-González V; Ballesta Martínez MJ; Guillén-Navarro E
An Pediatr (Engl Ed); 2020 Mar; 92(3):169-171. PubMed ID: 31147255
[No Abstract] [Full Text] [Related]
8. Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving
Phetthong T; Khongkrapan A; Jinawath N; Seo GH; Wattanasirichaigoon D
Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34680978
[TBL] [Abstract][Full Text] [Related]
9. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Küry S; Besnard T; Ebstein F; Khan TN; Gambin T; Douglas J; Bacino CA; Craigen WJ; Sanders SJ; Lehmann A; Latypova X; Khan K; Pacault M; Sacharow S; Glaser K; Bieth E; Perrin-Sabourin L; Jacquemont ML; Cho MT; Roeder E; Denommé-Pichon AS; Monaghan KG; Yuan B; Xia F; Simon S; Bonneau D; Parent P; Gilbert-Dussardier B; Odent S; Toutain A; Pasquier L; Barbouth D; Shaw CA; Patel A; Smith JL; Bi W; Schmitt S; Deb W; Nizon M; Mercier S; Vincent M; Rooryck C; Malan V; Briceño I; Gómez A; Nugent KM; Gibson JB; Cogné B; Lupski JR; Stessman HAF; Eichler EE; Retterer K; Yang Y; Redon R; Katsanis N; Rosenfeld JA; Kloetzel PM; Golzio C; Bézieau S; Stankiewicz P; Isidor B
Am J Hum Genet; 2017 Feb; 100(2):352-363. PubMed ID: 28132691
[TBL] [Abstract][Full Text] [Related]
10. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GMS; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BBA; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HAF; Meng L; Lyon GJ
Am J Hum Genet; 2018 May; 102(5):985-994. PubMed ID: 29656860
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.
Mor-Shaked H; Salah S; Yanovsky-Dagan S; Meiner V; Atawneh OM; Abu-Libdeh B; Elpeleg O; Harel T
Clin Genet; 2021 Apr; 99(4):577-582. PubMed ID: 33410501
[TBL] [Abstract][Full Text] [Related]
13. Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Ansar M; Ebstein F; Özkoç H; Paracha SA; Iwaszkiewicz J; Gesemann M; Zoete V; Ranza E; Santoni FA; Sarwar MT; Ahmed J; Krüger E; Bachmann-Gagescu R; Antonarakis SE
Hum Mol Genet; 2020 May; 29(7):1132-1143. PubMed ID: 32129449
[TBL] [Abstract][Full Text] [Related]
14. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Ganapathi M; Matsuoka LS; March M; Li D; Brokamp E; Benito-Sanz S; White SM; Lachlan K; Ahimaz P; Sewda A; Bastarache L; Thomas-Wilson A; Stoler JM; Bramswig NC; Baptista J; Stals K; Demurger F; Cogne B; Isidor B; Bedeschi MF; Peron A; Amiel J; Zackai E; Schacht JP; Iglesias AD; Morton J; Schmetz A; ; Seidel V; Lucia S; Baskin SM; Thiffault I; Cogan JD; Gordon CT; Chung WK; Bowdin S; Bhoj E
Eur J Hum Genet; 2023 Oct; 31(10):1117-1124. PubMed ID: 37500725
[TBL] [Abstract][Full Text] [Related]
15. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Tanaka AJ; Cho MT; Millan F; Juusola J; Retterer K; Joshi C; Niyazov D; Garnica A; Gratz E; Deardorff M; Wilkins A; Ortiz-Gonzalez X; Mathews K; Panzer K; Brilstra E; van Gassen KL; Volker-Touw CM; van Binsbergen E; Sobreira N; Hamosh A; McKnight D; Monaghan KG; Chung WK
Am J Hum Genet; 2015 Sep; 97(3):457-64. PubMed ID: 26299366
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A New Family with a Novel
Börklü E; Altunoğlu U; Eraslan S; Kayserili H
Mol Syndromol; 2022 May; 13(3):206-211. PubMed ID: 35707595
[No Abstract] [Full Text] [Related]
18. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
de Leeuw N; Bulk S; Green A; Jaeckle-Santos L; Baker LA; Zinn AR; Kleefstra T; van der Smagt JJ; Vianne Morgante AM; de Vries BB; van Bokhoven H; de Brouwer AP
Am J Med Genet A; 2010 Dec; 152A(12):3084-90. PubMed ID: 21108393
[TBL] [Abstract][Full Text] [Related]
19. Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.
Reuter MS; Zech M; Hempel M; Altmüller J; Heung T; Pölsler L; Santer R; Thiele H; Trost B; Kubisch C; Scherer SW; Rudnik-Schöneborn S; Bassett AS; Lessel D
Eur J Hum Genet; 2022 May; 30(5):611-618. PubMed ID: 35304602
[TBL] [Abstract][Full Text] [Related]
20. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE; Lev D; Kalscheuer VM; Charzewska A; Schubert J; Lerman-Sagie T; Kroes HY; Oegema R; Traverso M; Specchio N; Lassota M; Chelly J; Bennett-Back O; Carmi N; Koffler-Brill T; Iacomino M; Trivisano M; Capovilla G; Striano P; Nawara M; Rzonca S; Fischer U; Bienek M; Jensen C; Hu H; Thiele H; Altmüller J; Krause R; May P; Becker F; ; Balling R; Biskup S; Haas SA; Nürnberg P; van Gassen KLI; Lerche H; Zara F; Maljevic S; Leshinsky-Silver E
Brain; 2017 Nov; 140(11):2879-2894. PubMed ID: 29053855
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
