280 related articles for article (PubMed ID: 30842647)
1. Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P; Joset P; Steindl K; Oneda B; Gogoll L; Azzarello-Burri S; Sheth F; Datar C; Verma IC; Puri RD; Zollino M; Bachmann-Gagescu R; Niedrist D; Papik M; Figueiro-Silva J; Masood R; Zweier M; Kraemer D; Lincoln S; Rodan L; ; Passemard S; Drunat S; Verloes A; Horn AHC; Sticht H; Steinfeld R; Plecko B; Latal B; Jenni O; Asadollahi R; Rauch A
Genet Med; 2019 Sep; 21(9):2043-2058. PubMed ID: 30842647
[TBL] [Abstract][Full Text] [Related]
2. De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Nabais Sá MJ; Jensik PJ; McGee SR; Parker MJ; Lahiri N; McNeil EP; Kroes HY; Hagerman RJ; Harrison RE; Montgomery T; Splitt M; Palmer EE; Sachdev RK; Mefford HC; Scott AA; Martinez-Agosto JA; Lorenz R; Orenstein N; Berg JN; Amiel J; Heron D; Keren B; Cobben JM; Menke LA; Marco EJ; Graham JM; Pierson TM; Karimiani EG; Maroofian R; Manzini MC; Cauley ES; Colombo R; Odent S; Dubourg C; Phornphutkul C; de Brouwer APM; de Vries BBA; Vulto-vanSilfhout AT
Genet Med; 2019 Sep; 21(9):2059-2069. PubMed ID: 30923367
[TBL] [Abstract][Full Text] [Related]
3. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
Enomoto Y; Tsurusaki Y; Yokoi T; Abe-Hatano C; Ida K; Naruto T; Mitsui J; Tsuji S; Morishita S; Kurosawa K
Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
[TBL] [Abstract][Full Text] [Related]
4. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
[TBL] [Abstract][Full Text] [Related]
5. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
Kaymakcalan H; Yarman Y; Goc N; Toy F; Meral C; Ercan-Sencicek AG; Gunel M
Am J Med Genet A; 2018 Feb; 176(2):421-425. PubMed ID: 29226631
[TBL] [Abstract][Full Text] [Related]
6. A Homozygous
Waseem SS; Moawia A; Budde B; Tariq M; Khan A; Ali Z; Khan S; Iqbal M; Malik NA; Haque SU; Altmüller J; Thiele H; Hussain MS; Cirak S; Baig SM; Nürnberg P
Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680889
[TBL] [Abstract][Full Text] [Related]
7. De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
Niemann JH; Du C; Morlot S; Schmidt G; Auber B; Kaune B; Göhring G; Ripperger T; Schlegelberger B; Hofmann W; Smol T; Ait-Yahya E; Raimbault A; Lambilliotte A; Petit F; Steinemann D
Clin Genet; 2020 Oct; 98(4):374-378. PubMed ID: 32627184
[TBL] [Abstract][Full Text] [Related]
8. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Ansar M; Ullah F; Paracha SA; Adams DJ; Lai A; Pais L; Iwaszkiewicz J; Millan F; Sarwar MT; Agha Z; Shah SF; Qaisar AA; Falconnet E; Zoete V; Ranza E; Makrythanasis P; Santoni FA; Ahmed J; Katsanis N; Walsh C; Davis EE; Antonarakis SE
Am J Hum Genet; 2019 Jun; 104(6):1073-1087. PubMed ID: 31079899
[TBL] [Abstract][Full Text] [Related]
9. First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.
Rejeb I; Jilani H; Elaribi Y; Hizem S; Hila L; Zillahrdt JL; Chelly J; Benjemaa L
BMC Med Genet; 2017 Nov; 18(1):134. PubMed ID: 29149870
[TBL] [Abstract][Full Text] [Related]
10. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J; Goudie D; Blair E; Chandler K; Joss S; McKay V; Green A; Armstrong R; Lees M; Kamien B; Hopper B; Tan TY; Yap P; Stark Z; Okamoto N; Miyake N; Matsumoto N; Macnamara E; Murphy JL; McCormick E; Hakonarson H; Falk MJ; Li D; Blackburn P; Klee E; Babovic-Vuksanovic D; Schelley S; Hudgins L; Kant S; Isidor B; Cogne B; Bradbury K; Williams M; Patel C; Heussler H; Duff-Farrier C; Lakeman P; Scurr I; Kini U; Elting M; Reijnders M; Schuurs-Hoeijmakers J; Wafik M; Blomhoff A; Ruivenkamp CAL; Nibbeling E; Dingemans AJM; Douine ED; Nelson SF; ; Hempel M; Bierhals T; Lessel D; Johannsen J; Arboleda VA; Newbury-Ecob R
Genet Med; 2019 Apr; 21(4):850-860. PubMed ID: 30245513
[TBL] [Abstract][Full Text] [Related]
11. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Haag N; Tan EC; Begemann M; Buschmann L; Kraft F; Holschbach P; Lai AHM; Brett M; Mochida GH; DiTroia S; Pais L; Neil JE; Al-Saffar M; Bastaki L; Walsh CA; Kurth I; Knopp C
Eur J Hum Genet; 2021 Nov; 29(11):1663-1668. PubMed ID: 34413497
[TBL] [Abstract][Full Text] [Related]
12. Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome.
Kaushik P; Mahajan N; Girimaji SC; Kumar A
J Mol Neurosci; 2020 Aug; 70(8):1225-1228. PubMed ID: 32170714
[TBL] [Abstract][Full Text] [Related]
13. Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.
Maver A; Čuturilo G; Kovanda A; Miletić A; Peterlin B
Eur J Med Genet; 2019 Dec; 62(12):103598. PubMed ID: 30543990
[TBL] [Abstract][Full Text] [Related]
14. Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Prokudin I; Li D; He S; Guo Y; Goodwin L; Wilson M; Rose L; Tian L; Chen Y; Liang J; Keating B; Xu X; Jamieson RV; Hakonarson H
Clin Exp Ophthalmol; 2015 Mar; 43(2):132-8. PubMed ID: 25060287
[TBL] [Abstract][Full Text] [Related]
15. A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.
Karimzadeh MR; Omidi F; Sahebalzamani A; Saeidi K
J Mol Neurosci; 2021 Dec; 71(12):2566-2574. PubMed ID: 34041686
[TBL] [Abstract][Full Text] [Related]
16. The identification of two pathogenic variants in a family with mild and severe forms of developmental delay.
Miyake N; Heydari S; Garshasbi M; Saitoh S; Nasiri J; Hamanaka K; Takata A; Matsumoto N; Beheshti FH; Chaleshtori ARS
J Hum Genet; 2021 Apr; 66(4):445-448. PubMed ID: 33037390
[TBL] [Abstract][Full Text] [Related]
17. Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome.
Alipour N; Salehpour S; Tonekaboni SH; Rostami M; Bahari S; Yassaee V; Miryounesi M; Ghafouri-Fard S
J Mol Neurosci; 2020 Jan; 70(1):21-25. PubMed ID: 31444703
[TBL] [Abstract][Full Text] [Related]
18. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
Passemard S; Titomanlio L; Elmaleh M; Afenjar A; Alessandri JL; Andria G; de Villemeur TB; Boespflug-Tanguy O; Burglen L; Del Giudice E; Guimiot F; Hyon C; Isidor B; Mégarbané A; Moog U; Odent S; Hernandez K; Pouvreau N; Scala I; Schaer M; Gressens P; Gerard B; Verloes A
Neurology; 2009 Sep; 73(12):962-9. PubMed ID: 19770472
[TBL] [Abstract][Full Text] [Related]
19. TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.
Cavallin M; Maillard C; Hully M; Philbert M; Boddaert N; Reilly ML; Nitschké P; Bery A; Bahi-Buisson N
Eur J Med Genet; 2018 Dec; 61(12):729-732. PubMed ID: 29758293
[TBL] [Abstract][Full Text] [Related]
20. Biallelic variants in
Okur V; Ganapathi M; Wilson A; Chung WK
Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 30275004
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]