348 related articles for article (PubMed ID: 27871432)
1. A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.
Naseer MI; Rasool M; Jan MM; Chaudhary AG; Pushparaj PN; Abuzenadah AM; Al-Qahtani MH
J Neurol Sci; 2016 Dec; 371():121-125. PubMed ID: 27871432
[TBL] [Abstract][Full Text] [Related]
2. Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Howard MF; Murakami Y; Pagnamenta AT; Daumer-Haas C; Fischer B; Hecht J; Keays DA; Knight SJ; Kölsch U; Krüger U; Leiz S; Maeda Y; Mitchell D; Mundlos S; Phillips JA; Robinson PN; Kini U; Taylor JC; Horn D; Kinoshita T; Krawitz PM
Am J Hum Genet; 2014 Feb; 94(2):278-87. PubMed ID: 24439110
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A Rare Variant in
Perez Y; Wormser O; Sadaka Y; Birk R; Narkis G; Birk OS
Biomed Res Int; 2017; 2017():3470234. PubMed ID: 29119105
[TBL] [Abstract][Full Text] [Related]
5. A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy.
Naseer MI; Alwasiyah MK; Abdulkareem AA; Bajammal RA; Trujillo C; Abu-Elmagd M; Jafri MA; Chaudhary AG; Al-Qahtani MH
Genes Genomics; 2018 Nov; 40(11):1149-1155. PubMed ID: 30315519
[TBL] [Abstract][Full Text] [Related]
6. A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.
Naseer MI; Rasool M; Sogaty S; Chaudhary RA; Mansour HM; Chaudhary AG; Abuzenadah AM; Al-Qahtani MH
Ann Saudi Med; 2017; 37(2):148-153. PubMed ID: 28377545
[TBL] [Abstract][Full Text] [Related]
7. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
Thompson MD; Knaus AA; Barshop BA; Caliebe A; Muhle H; Nguyen TTM; Baratang NV; Kinoshita T; Percy ME; Campeau PM; Murakami Y; Cole DE; Krawitz PM; Mabry CC
Eur J Med Genet; 2020 Apr; 63(4):103822. PubMed ID: 31805394
[TBL] [Abstract][Full Text] [Related]
8. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
Krawitz PM; Murakami Y; Rieß A; Hietala M; Krüger U; Zhu N; Kinoshita T; Mundlos S; Hecht J; Robinson PN; Horn D
Am J Hum Genet; 2013 Apr; 92(4):584-9. PubMed ID: 23561847
[TBL] [Abstract][Full Text] [Related]
9. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L; Tawamie H; Murakami Y; Mang Y; ur Rehman S; Buchert R; Schaffer S; Muhammad S; Bak M; Nöthen MM; Bennett EP; Maeda Y; Aigner M; Reis A; Kinoshita T; Tommerup N; Baig SM; Abou Jamra R
Am J Hum Genet; 2013 Apr; 92(4):575-83. PubMed ID: 23561846
[TBL] [Abstract][Full Text] [Related]
10. The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.
Alrayes N; Mohamoud HS; Ahmed S; Almramhi MM; Shuaib TM; Wang J; Al-Aama JY; Everett K; Nasir J; Jelani M
J Neurol Sci; 2016 Apr; 363():240-4. PubMed ID: 27000257
[TBL] [Abstract][Full Text] [Related]
11. PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
Nakamura K; Osaka H; Murakami Y; Anzai R; Nishiyama K; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Kinoshita T; Matsumoto N; Saitsu H
Epilepsia; 2014 Feb; 55(2):e13-7. PubMed ID: 24417746
[TBL] [Abstract][Full Text] [Related]
12. A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
Pagnamenta AT; Murakami Y; Anzilotti C; Titheradge H; Oates AJ; Morton J; ; Kinoshita T; Kini U; Taylor JC
Hum Mutat; 2018 Jun; 39(6):822-826. PubMed ID: 29573052
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Mutations in the phosphatidylinositol glycan C (
Edvardson S; Murakami Y; Nguyen TT; Shahrour M; St-Denis A; Shaag A; Damseh N; Le Deist F; Bryceson Y; Abu-Libdeh B; Campeau PM; Kinoshita T; Elpeleg O
J Med Genet; 2017 Mar; 54(3):196-201. PubMed ID: 27694521
[TBL] [Abstract][Full Text] [Related]
16. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE; Banka S; Ajeawung NF; Molidperee S; Chen GG; Koenig MK; Adejumo RB; Till M; Harbord M; Perrier R; Lemyre E; Boucher RM; Skotko BG; Waxler JL; Thomas MA; Hodge JC; Gecz J; Nicholl J; McGregor L; Linden T; Sisodiya SM; Sanlaville D; Cheung SW; Ernst C; Campeau PM
Genet Med; 2019 May; 21(5):1058-1064. PubMed ID: 30245510
[TBL] [Abstract][Full Text] [Related]
17. De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature.
Ullman NL; Smith-Hicks CL; Desai S; Stafstrom CE
Pediatr Neurol; 2018 Aug; 85():76-78. PubMed ID: 29807643
[No Abstract] [Full Text] [Related]
18. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
Jiang C; Gai N; Zou Y; Zheng Y; Ma R; Wei X; Liang D; Wu L
Clin Chim Acta; 2017 Jan; 464():24-29. PubMed ID: 27983999
[TBL] [Abstract][Full Text] [Related]
19. Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
Faqeih EA; Al-Owain M; Colak D; Kenana R; Al-Yafee Y; Al-Dosary M; Al-Saman A; Albalawi F; Al-Sarar D; Domiaty D; Daghestani M; Kaya N
Am J Med Genet A; 2014 Jun; 164A(6):1565-70. PubMed ID: 24668509
[TBL] [Abstract][Full Text] [Related]
20. A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.
Bourque DK; Hartley T; Nikkel SM; Pohl D; Tétreault M; Kernohan KD; ; Dyment DA
Eur J Med Genet; 2018 Feb; 61(2):89-93. PubMed ID: 29066376
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
