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Results: 11

Cited In for PubMed (Select 2878939)


Lowe syndrome: a single center's experience in Korea.

Kim HK, Kim JH, Kim YM, Kim GH, Lee BH, Choi JH, Yoo HW.

Korean J Pediatr. 2014 Mar;57(3):140-8. doi: 10.3345/kjp.2014.57.3.140. Epub 2014 Mar 31.


X-linked cataract and Nance-Horan syndrome are allelic disorders.

Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ.

Hum Mol Genet. 2009 Jul 15;18(14):2643-55. doi: 10.1093/hmg/ddp206. Epub 2009 May 4.


X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

Christianson AL, Stevenson RE, van der Meyden CH, Pelser J, Theron FW, van Rensburg PL, Chandler M, Schwartz CE.

J Med Genet. 1999 Oct;36(10):759-66.


High-resolution landmark framework for the sequence-ready mapping of Xq23-q26.1.

Steingruber HE, Dunham A, Coffey AJ, Clegg SM, Howell GR, Maslen GL, Scott CE, Gwilliam R, Hunt PJ, Sotheran EC, Huckle EJ, Hunt SE, Dhami P, Soderlund C, Leversha MA, Bentley DR, Ross MT.

Genome Res. 1999 Aug;9(8):751-62.


Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk PS, Lopez-Pajares I, Megabarne A, Philippe HJ, Plauchu H, Torres ML, Lunardi J.

Am J Hum Genet. 1999 Jul;65(1):68-76.


Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.

Scheinman SJ, Pook MA, Wooding C, Pang JT, Frymoyer PA, Thakker RV.

J Clin Invest. 1993 Jun;91(6):2351-7.


Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment.

Reilly DS, Lewis RA, Ledbetter DH, Nussbaum RL.

Am J Hum Genet. 1988 May;42(5):748-55.


Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.

Mueller OT, Hartsfield JK Jr, Gallardo LA, Essig YP, Miller KL, Papenhausen PR, Tedesco TA.

Am J Hum Genet. 1991 Oct;49(4):804-10.

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