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Items: 1 to 20 of 106

1.

BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.

Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH.

Am J Hum Genet. 2010 Oct 8;87(4):532-7. doi: 10.1016/j.ajhg.2010.08.015.

2.

BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.

Zong Z, Tees S, Miyanji F, Fauth C, Reilly C, Lopez E, Tredwell S, Paul Goldberg Y, Delaney A, Eydoux P, Van Allen M, Lehman A.

J Hum Genet. 2015 Dec;60(12):743-7. doi: 10.1038/jhg.2015.116.

PMID:
26467725
3.

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).

Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E.

Am J Med Genet A. 2011 Nov;155A(11):2801-6. doi: 10.1002/ajmg.a.34240.

PMID:
21990102
4.

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.

Kuchinskaya E, Grigelioniene G, Hammarsjö A, Lee HR, Högberg L, Grigelionis G, Kim OH, Nishimura G, Cho TJ.

Orphanet J Rare Dis. 2016 Jan 4;11:1. doi: 10.1186/s13023-015-0380-0.

5.

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.

Am J Hum Genet. 2002 Mar;70(3):726-36. Erratum in: Am J Hum Genet 2002 Apr;70(4):1075.

6.

Discovery of rare homozygous mutations from studies of consanguineous pedigrees.

Alkuraya FS.

Curr Protoc Hum Genet. 2012 Oct;Chapter 6:Unit6.12. doi: 10.1002/0471142905.hg0612s75. Review.

PMID:
23074070
7.

Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.

Vatanavicharn N, Graham JM Jr, Curry CJ, Pepkowitz S, Lachman RS, Rimoin DL, Wilcox WR.

Am J Med Genet A. 2007 Oct 1;143A(19):2292-302.

PMID:
17764081
8.

BMPER, a novel endothelial cell precursor-derived protein, antagonizes bone morphogenetic protein signaling and endothelial cell differentiation.

Moser M, Binder O, Wu Y, Aitsebaomo J, Ren R, Bode C, Bautch VL, Conlon FL, Patterson C.

Mol Cell Biol. 2003 Aug;23(16):5664-79.

9.

Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics.

Scottoline B, Rosenthal S, Keisari R, Kirpekar R, Angell C, Wallerstein R.

Am J Med Genet A. 2012 Jun;158A(6):1447-51. doi: 10.1002/ajmg.a.35352.

PMID:
22581610
10.

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.

Ben Said M, Grati M, Ishimoto T, Zou B, Chakchouk I, Ma Q, Yao Q, Hammami B, Yan D, Mittal R, Nakamichi N, Ghorbel A, Neng L, Tekin M, Shi XR, Kato Y, Masmoudi S, Lu Z, Hmani M, Liu X.

Hum Genet. 2016 May;135(5):513-24. doi: 10.1007/s00439-016-1657-7.

PMID:
27023905
11.

The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.

Petukhova L, Shimomura Y, Wajid M, Gorroochurn P, Hodge SE, Christiano AM.

Hum Hered. 2009;68(2):117-30. doi: 10.1159/000212504.

12.

Autozygosity mapping with exome sequence data.

Carr IM, Bhaskar S, O'Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS.

Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220.

PMID:
23090942
13.

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.

PMID:
25098561
14.

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.

Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016.

15.

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.

Ajmal M, Khan MI, Micheal S, Ahmed W, Shah A, Venselaar H, Bokhari H, Azam A, Waheed NK, Collin RW, den Hollander AI, Qamar R, Cremers FP.

Mol Vis. 2012;18:1226-37.

17.

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-González AM, Abdel-Salam G, Temtamy S, Alkuraya FS.

Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012.

18.

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; European Retinal Disease Consortium., Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC.

Am J Hum Genet. 2011 Aug 12;89(2):253-64. doi: 10.1016/j.ajhg.2011.07.005.

19.

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; European Retinal Disease Consortium., den Hollander AI, Klevering BJ, Cremers FP.

Am J Hum Genet. 2012 Jan 13;90(1):102-9. doi: 10.1016/j.ajhg.2011.11.015.

20.

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.

Alkuraya FS.

Hum Genet. 2013 Nov;132(11):1197-211. doi: 10.1007/s00439-013-1344-x. Review.

PMID:
23907654
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