112 related articles for article (PubMed ID: 27743390)
21. Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.
Abuzenadah AM; Zaher GF; Dallol A; Damanhouri GA; Chaudhary AG; Al-Sayes F; Gari MA; AlZahrani M; Hindawi S; Al-Qahtani MH
J Thromb Thrombolysis; 2013 Nov; 36(4):501-6. PubMed ID: 23334996
[TBL] [Abstract][Full Text] [Related]
22. A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Zeng H; Tang JG; Yang YF; Tan ZP; Tan JQ
Cytogenet Genome Res; 2017; 152(1):16-21. PubMed ID: 28658676
[TBL] [Abstract][Full Text] [Related]
23. New germline GATA1 variant in females with anemia and thrombocytopenia.
Svidnicki MCCM; Filho MAF; Brandão MM; Dos Santos M; de Oliveira Dias R; Tavares RS; Assis-Mendonça GR; Traina F; Saad STO
Blood Cells Mol Dis; 2021 May; 88():102545. PubMed ID: 33611093
[TBL] [Abstract][Full Text] [Related]
24. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Elsayed SM; Phillips JB; Heller R; Thoenes M; Elsobky E; Nürnberg G; Nürnberg P; Seland S; Ebermann I; Altmüller J; Thiele H; Toliat M; Körber F; Hu XJ; Wu YD; Zaki MS; Abdel-Salam G; Gleeson J; Boltshauser E; Westerfield M; Bolz HJ
Hum Mol Genet; 2015 May; 24(9):2594-603. PubMed ID: 25616960
[TBL] [Abstract][Full Text] [Related]
25. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
Jelani M; Kang C; Mohamoud HS; Al-Rehaili R; Almramhi MM; Serafi R; Yang H; Al-Aama JY; Naeem M; Alkhiary YM
Arch Oral Biol; 2016 Jul; 67():28-33. PubMed ID: 27019138
[TBL] [Abstract][Full Text] [Related]
26. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
[TBL] [Abstract][Full Text] [Related]
27. Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.
Walne AJ; Dokal A; Plagnol V; Beswick R; Kirwan M; de la Fuente J; Vulliamy T; Dokal I
Haematologica; 2012 Apr; 97(4):524-8. PubMed ID: 22180433
[TBL] [Abstract][Full Text] [Related]
28. Small-platelet thrombocytopenia in a family with autosomal recessive inheritance pattern.
Levin C; Zalman L; Tamary H; Krasnov T; Khayat M; Shalev S; Salama I; Koren A
Pediatr Blood Cancer; 2013 Oct; 60(10):E128-30. PubMed ID: 23650215
[TBL] [Abstract][Full Text] [Related]
29. A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Guéguen P; Rouault K; Chen JM; Raguénès O; Fichou Y; Hardy E; Gobin E; Pan-Petesch B; Kerbiriou M; Trouvé P; Marcorelles P; Abgrall JF; Le Maréchal C; Férec C
PLoS One; 2013; 8(9):e74728. PubMed ID: 24069336
[TBL] [Abstract][Full Text] [Related]
30. Gonadal mosaicism as a rare cause of autosomal recessive inheritance.
Anazi S; Al-Sabban E; Alkuraya FS
Clin Genet; 2014 Mar; 85(3):278-81. PubMed ID: 23551117
[TBL] [Abstract][Full Text] [Related]
31. Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
Irum B; Khan SY; Ali M; Kaul H; Kabir F; Rauf B; Fatima F; Nadeem R; Khan AO; Al Obaisi S; Naeem MA; Nasir IA; Khan SN; Husnain T; Riazuddin S; Akram J; Eghrari AO; Riazuddin SA
PLoS One; 2016; 11(11):e0162620. PubMed ID: 27814360
[TBL] [Abstract][Full Text] [Related]
32. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Makrythanasis P; Nelis M; Santoni FA; Guipponi M; Vannier A; Béna F; Gimelli S; Stathaki E; Temtamy S; Mégarbané A; Masri A; Aglan MS; Zaki MS; Bottani A; Fokstuen S; Gwanmesia L; Aliferis K; Bustamante Eduardo M; Stamoulis G; Psoni S; Kitsiou-Tzeli S; Fryssira H; Kanavakis E; Al-Allawi N; Sefiani A; Al Hait S; Elalaoui SC; Jalkh N; Al-Gazali L; Al-Jasmi F; Bouhamed HC; Abdalla E; Cooper DN; Hamamy H; Antonarakis SE
Hum Mutat; 2014 Oct; 35(10):1203-10. PubMed ID: 25044680
[TBL] [Abstract][Full Text] [Related]
33. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
Lin S; Harlalka GV; Hameed A; Reham HM; Yasin M; Muhammad N; Khan S; Baple EL; Crosby AH; Saleha S
BMC Med Genet; 2018 Sep; 19(1):160. PubMed ID: 30200890
[TBL] [Abstract][Full Text] [Related]
34. A mutation in
Darbari E; Zare-Abdollahi D; Alavi A; Rezaei Kanavi M; Feizi S; Hosseini SB; Baradaran-Rafii A; Ahmadieh H; Issazadeh-Navikas S; Elahi E
Mol Vis; 2020; 26():757-765. PubMed ID: 33273802
[TBL] [Abstract][Full Text] [Related]
35. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
Audo I; Bujakowska K; Mohand-Saïd S; Tronche S; Lancelot ME; Antonio A; Germain A; Lonjou C; Carpentier W; Sahel JA; Bhattacharya S; Zeitz C
Mol Vis; 2011; 17():1598-606. PubMed ID: 21738389
[TBL] [Abstract][Full Text] [Related]
36. Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability.
Ataei R; Khoshbakht S; Beheshtian M; Abedini SS; Behravan H; Esmaeili Dizghandi S; Godratpour F; Mirzaei S; Bahrami F; Akbari M; Keshavarzi F; Kahrizi K; Najmabadi H
Arch Iran Med; 2019 Aug; 22(8):461-471. PubMed ID: 31679349
[TBL] [Abstract][Full Text] [Related]
37. The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Schreml J; Durmaz B; Cogulu O; Keupp K; Beleggia F; Pohl E; Milz E; Coker M; Ucar SK; Nürnberg G; Nürnberg P; Kuhn J; Ozkinay F
Hum Genet; 2014 Jan; 133(1):29-39. PubMed ID: 23982343
[TBL] [Abstract][Full Text] [Related]
38. Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
Kalsoom UE; Klopocki E; Wasif N; Tariq M; Khan S; Hecht J; Krawitz P; Mundlos S; Ahmad W
J Med Genet; 2013 Jan; 50(1):47-53. PubMed ID: 23160277
[TBL] [Abstract][Full Text] [Related]
39. Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing.
Khan MA; Hussain A; Sher G; Zubaida B; Naeem M
Genet Test Mol Biomarkers; 2018 Sep; 22(9):541-545. PubMed ID: 30235039
[TBL] [Abstract][Full Text] [Related]
40. Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.
Mehrjoo Z; Akbari MR; Abedini SS; Vaziri S; Kahrizi K; Najmabadi H
Arch Iran Med; 2015 Oct; 18(10):643-69. PubMed ID: 26443248
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
