212 related articles for article (PubMed ID: 26192461)
41. A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis.
Horev L; Potikha T; Ayalon S; Molho-Pessach V; Ingber A; Gany MA; Edin BS; Glaser B; Zlotogorski A
Exp Dermatol; 2005 Dec; 14(12):891-7. PubMed ID: 16274456
[TBL] [Abstract][Full Text] [Related]
42. Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.
Perche O; Menuet A; Marcos M; Liu L; Pâris A; Utami KH; Kervran D; Cacheux V; Laudier B; Briault S
Eur J Med Genet; 2013 Nov; 56(11):635-41. PubMed ID: 24013099
[TBL] [Abstract][Full Text] [Related]
43. Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly.
Scala I; Titomanlio L; Del Giudice E; Passemard S; Figliuolo C; Annunziata P; Granese B; Scarpato E; Verloes A; Andria G
Am J Med Genet A; 2010 Nov; 152A(11):2882-5. PubMed ID: 20949544
[No Abstract] [Full Text] [Related]
44. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Iacobazzi V; Invernizzi F; Baratta S; Pons R; Chung W; Garavaglia B; Dionisi-Vici C; Ribes A; Parini R; Huertas MD; Roldan S; Lauria G; Palmieri F; Taroni F
Hum Mutat; 2004 Oct; 24(4):312-20. PubMed ID: 15365988
[TBL] [Abstract][Full Text] [Related]
45. Functional analysis of a novel intronic variant of
Luo S; Ren L; Wang R; Hu J; Wei W; Feng Y; Huang S
Heliyon; 2024 May; 10(10):e30285. PubMed ID: 38818167
[TBL] [Abstract][Full Text] [Related]
46. Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
Hassan MJ; Khurshid M; Azeem Z; John P; Ali G; Chishti MS; Ahmad W
BMC Med Genet; 2007 Sep; 8():58. PubMed ID: 17764569
[TBL] [Abstract][Full Text] [Related]
47. A novel WDR62 mutation causes primary microcephaly in a Pakistani family.
Memon MM; Raza SI; Basit S; Kousar R; Ahmad W; Ansar M
Mol Biol Rep; 2013 Jan; 40(1):591-5. PubMed ID: 23065275
[TBL] [Abstract][Full Text] [Related]
48. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.
Attali R; Warwar N; Israel A; Gurt I; McNally E; Puckelwartz M; Glick B; Nevo Y; Ben-Neriah Z; Melki J
Hum Mol Genet; 2009 Sep; 18(18):3462-9. PubMed ID: 19542096
[TBL] [Abstract][Full Text] [Related]
49. Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.
Saadi A; Borck G; Boddaert N; Chekkour MC; Imessaoudene B; Munnich A; Colleaux L; Chaouch M
Eur J Med Genet; 2009; 52(4):180-4. PubMed ID: 19332161
[TBL] [Abstract][Full Text] [Related]
50. The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.
Shawar SM; Al-Drees MA; Ramadan AR; Ali NH; Alfadhli SM
Atherosclerosis; 2012 Feb; 220(2):429-36. PubMed ID: 22129472
[TBL] [Abstract][Full Text] [Related]
51. Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
Grandone A; Torella A; Santoro C; Giugliano T; Del Vecchio Blanco F; Mutarelli M; Cirillo M; Cirillo G; Piluso G; Capristo C; Festa A; Marzuillo P; Miraglia Del Giudice E; Perrone L; Nigro V
Clin Genet; 2016 Nov; 90(5):445-450. PubMed ID: 26940245
[TBL] [Abstract][Full Text] [Related]
52. [Update on autosomal recessive primary microcephaly (MCPH)-associated proteins].
Wang YJ; Zhou XK; Xu D
Yi Chuan; 2019 Oct; 41(10):905-918. PubMed ID: 31624053
[TBL] [Abstract][Full Text] [Related]
53. Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
Miyamoto T; Inoue H; Sakamoto Y; Kudo E; Naito T; Mikawa T; Mikawa Y; Isashiki Y; Osabe D; Shinohara S; Shiota H; Itakura M
Invest Ophthalmol Vis Sci; 2005 Aug; 46(8):2726-35. PubMed ID: 16043844
[TBL] [Abstract][Full Text] [Related]
54. Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
Abdel-Hamid MS; Ismail MF; Darwish HA; Effat LK; Zaki MS; Abdel-Salam GM
Am J Med Genet A; 2016 Aug; 170(8):2133-40. PubMed ID: 27250695
[TBL] [Abstract][Full Text] [Related]
55. Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
Batool T; Irshad S; Mahmood K
Braz J Biol; 2021; 83():e246040. PubMed ID: 34378666
[TBL] [Abstract][Full Text] [Related]
56. Molecular genetics of human primary microcephaly: an overview.
Faheem M; Naseer MI; Rasool M; Chaudhary AG; Kumosani TA; Ilyas AM; Pushparaj P; Ahmed F; Algahtani HA; Al-Qahtani MH; Saleh Jamal H
BMC Med Genomics; 2015; 8 Suppl 1(Suppl 1):S4. PubMed ID: 25951892
[TBL] [Abstract][Full Text] [Related]
57. Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.
Yassaee VR; Soltani Z; Ardakani BM
Arch Med Res; 2011 Feb; 42(2):163-8. PubMed ID: 21565631
[TBL] [Abstract][Full Text] [Related]
58. A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript.
Thongnoppakhun A; Rungroj N; Wilairat P; Vareesangthip K; Sirinavin C; Yenchitsomanus PT
Hum Mutat; 2000 Jan; 15(1):115. PubMed ID: 10612835
[TBL] [Abstract][Full Text] [Related]
59. Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes
Khan NM; Masoud MS; Baig SM; Qasim M; Chang J
Biomed Res Int; 2022; 2022():3769948. PubMed ID: 35281599
[TBL] [Abstract][Full Text] [Related]
60. Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.
Sarli A; Al Sudani ZM; Vaghefi F; Motallebi F; Khosravi T; Rezaie N; Oladnabi M
Mol Biol Rep; 2024 Jan; 51(1):181. PubMed ID: 38252227
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
