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Items: 1 to 20 of 92

1.

Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing.

Al-Romaih KI, Genovese G, Al-Mojalli H, Al-Othman S, Al-Manea H, Al-Suleiman M, Al-Jondubi M, Atallah N, Al-Rodayyan M, Weins A, Pollak MR, Adra CN.

Am J Kidney Dis. 2011 Aug;58(2):186-95. doi: 10.1053/j.ajkd.2011.01.025. Epub 2011 Jun 12.

2.

Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis.

Mistry K, Ireland JH, Ng RC, Henderson JM, Pollak MR.

Am J Kidney Dis. 2007 Nov;50(5):855-64.

PMID:
17954299
3.

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. doi: 10.1016/j.archoralbio.2016.03.012. Epub 2016 Mar 23.

PMID:
27019138
4.

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. doi: 10.1002/humu.22617. Epub 2014 Aug 18.

PMID:
25044680
5.

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, Chen R.

Hum Mutat. 2011 Dec;32(12):1450-9. doi: 10.1002/humu.21587. Epub 2011 Sep 23.

6.

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R.

JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798.

PMID:
28097321
7.

Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.

Ahmed I, Rafiq MA, Vincent JB, Bhatti A, Ayub M, John P.

Acta Neuropsychiatr. 2015 Feb;27(1):38-47. doi: 10.1017/neu.2014.37. Epub 2014 Dec 1.

PMID:
25434728
8.

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W.

PLoS One. 2014 Nov 13;9(11):e112747. doi: 10.1371/journal.pone.0112747. eCollection 2014.

9.

Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.

Ajmal M, Khan MI, Neveling K, Khan YM, Ali SH, Ahmed W, Iqbal MS, Azam M, den Hollander AI, Collin RW, Qamar R, Cremers FP.

Mol Vis. 2012;18:1558-71. Epub 2012 Jun 13.

10.

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.

Lin F, Bian F, Zou J, Wu X, Shan J, Lu W, Yao Y, Jiang G, Gale DP.

BMC Nephrol. 2014 Nov 7;15:175. doi: 10.1186/1471-2369-15-175.

11.

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E.

Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. Epub 2014 Mar 13.

PMID:
24625443
12.
13.

Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.

Kannabiran C, Singh H, Sahini N, Jalali S, Mohan G.

Mol Vis. 2012;18:1165-74. Epub 2012 May 4.

14.

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

Saqib MA, Nikopoulos K, Ullah E, Sher Khan F, Iqbal J, Bibi R, Jarral A, Sajid S, Nishiguchi KM, Venturini G, Ansar M, Rivolta C.

Sci Rep. 2015 May 6;5:9965. doi: 10.1038/srep09965.

15.

Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies.

Levine AP, Connor TM, Oygar DD, Neild GH, Segal AW, Maxwell PH, Gale DP.

BMC Genomics. 2015 Mar 10;16:163. doi: 10.1186/s12864-015-1360-4.

16.

SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.

Papić L, Fischer D, Trajanoski S, Höftberger R, Fischer C, Ströbel T, Schmidt WM, Bittner RE, Schabhüttl M, Gruber K, Pieber TR, Janecke AR, Auer-Grumbach M.

Eur J Med Genet. 2011 May-Jun;54(3):214-9. doi: 10.1016/j.ejmg.2010.12.003. Epub 2010 Dec 21.

17.

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.

Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB.

Hum Genet. 2014 Nov;133(11):1419-29. doi: 10.1007/s00439-014-1475-8. Epub 2014 Aug 7.

PMID:
25098561
18.

Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Shevach E, Harel A, Storm T, Sagi M, Eli D, Merin S, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2014 Feb 24;55(2):1149-60. doi: 10.1167/iovs.13-13625.

PMID:
24474277
19.

Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research.

Kari JA, Bockenhauer D, Stanescu H, Gari M, Kleta R, Singh AK.

Am J Kidney Dis. 2014 Feb;63(2):304-10. doi: 10.1053/j.ajkd.2013.08.033. Epub 2013 Nov 13. Review.

PMID:
24239020
20.

Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.

Singh HP, Jalali S, Narayanan R, Kannabiran C.

Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4065-71. doi: 10.1167/iovs.09-3479. Epub 2009 Apr 1.

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