337 related articles for article (PubMed ID: 24798461)
1. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
Platzer K; Hüning I; Obieglo C; Schwarzmayr T; Gabriel R; Strom TM; Gillessen-Kaesbach G; Kaiser FJ
Am J Med Genet A; 2014 Aug; 164A(8):1976-80. PubMed ID: 24798461
[TBL] [Abstract][Full Text] [Related]
2. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
Zahrani F; Aldahmesh MA; Alshammari MJ; Al-Hazzaa SA; Alkuraya FS
Am J Hum Genet; 2013 Mar; 92(3):387-91. PubMed ID: 23453665
[TBL] [Abstract][Full Text] [Related]
3. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Alrakaf L; Al-Owain MA; Busehail M; Alotaibi MA; Monies D; Aldhalaan HM; Alhashem A; Al-Hassnan ZN; Rahbeeni ZA; Murshedi FA; Ani NA; Al-Maawali A; Ibrahim NA; Abdulwahab FM; Alsagob M; Hashem MO; Ramadan W; Abouelhoda M; Meyer BF; Kaya N; Maddirevula S; Alkuraya FS
Am J Med Genet A; 2018 Mar; 176(3):715-721. PubMed ID: 29383837
[TBL] [Abstract][Full Text] [Related]
4.
Alfiya F; Jose M; Chandrasekharan SV; Sundaram S; Urulangodi M; Thomas B; Radhakrishnan A; Banerjee M; Menon RN
J Genet; 2022; 101():. PubMed ID: 35791610
[TBL] [Abstract][Full Text] [Related]
5. Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.
Demeulenaere S; Beysen D; De Veuster I; Reyniers E; Kooy F; Meuwissen M
Eur J Med Genet; 2019 Aug; 62(8):103691. PubMed ID: 31176769
[TBL] [Abstract][Full Text] [Related]
6. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Baasch AL; Hüning I; Gilissen C; Klepper J; Veltman JA; Gillessen-Kaesbach G; Hoischen A; Lohmann K
Epilepsia; 2014 Apr; 55(4):e25-9. PubMed ID: 24579881
[TBL] [Abstract][Full Text] [Related]
7. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.
Nerakh G; Vasikarla M
Brain Dev; 2023 Oct; 45(9):512-516. PubMed ID: 37451886
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
Akizu N; Shembesh NM; Ben-Omran T; Bastaki L; Al-Tawari A; Zaki MS; Koul R; Spencer E; Rosti RO; Scott E; Nickerson E; Gabriel S; da Gente G; Li J; Deardorff MA; Conlin LK; Horton MA; Zackai EH; Sherr EH; Gleeson JG
Am J Hum Genet; 2013 Mar; 92(3):392-400. PubMed ID: 23453666
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.
Spaggiari E; Baumann C; Alison M; Oury JF; Belarbi N; Dupont C; Guimiot F; Delezoide AL
Eur J Med Genet; 2013 Jun; 56(6):297-300. PubMed ID: 23523603
[TBL] [Abstract][Full Text] [Related]
14. Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
Lee J; Jung SC; Hong YB; Yoo JH; Koo H; Lee JH; Hong HD; Kim SB; Chung KW; Choi BO
Mol Med Rep; 2016 Jul; 14(1):33-40. PubMed ID: 27150940
[TBL] [Abstract][Full Text] [Related]
15. Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature.
Agostini A; Marchetti D; Izzi C; Cocco I; Pinelli L; Accorsi P; Iascone Maria R; Giordano L
Am J Med Genet B Neuropsychiatr Genet; 2018 Dec; 177(8):687-690. PubMed ID: 30345598
[TBL] [Abstract][Full Text] [Related]
16. Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
Miyamoto S; Kato M; Hiraide T; Shiohama T; Goto T; Hojo A; Ebata A; Suzuki M; Kobayashi K; Chong PF; Kira R; Matsushita HB; Ikeda H; Hoshino K; Matsufuji M; Moriyama N; Furuyama M; Yamamoto T; Nakashima M; Saitsu H
J Hum Genet; 2021 Nov; 66(11):1061-1068. PubMed ID: 33958710
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.
Pons L; Sabatier I; Alix E; Faoucher M; Labalme A; Sanlaville D; Lesca G
Eur J Med Genet; 2020 Oct; 63(10):103994. PubMed ID: 32707268
[TBL] [Abstract][Full Text] [Related]
19. Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
Hampshire K; Martin PM; Carlston C; Slavotinek A
Am J Med Genet A; 2020 Aug; 182(8):1923-1932. PubMed ID: 32506774
[TBL] [Abstract][Full Text] [Related]
20. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
Heimer G; Marek-Yagel D; Eyal E; Barel O; Oz Levi D; Hoffmann C; Ruzzo EK; Ganelin-Cohen E; Lancet D; Pras E; Rechavi G; Nissenkorn A; Anikster Y; Goldstein DB; Ben Zeev B
Clin Genet; 2015 Oct; 88(4):327-35. PubMed ID: 26138499
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
