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Items: 1 to 20 of 95

1.

Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses.

Mortellaro C, Bello L, Pucci A, Lucchina AG, Migliario M.

J Craniofac Surg. 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb.

PMID:
20856047
2.

Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome).

Ellis DS, Heckenlively JR, Martin CL, Lachman RS, Sakati NA, Rimoin DL.

Am J Ophthalmol. 1984 Feb;97(2):233-9.

PMID:
6696034
3.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM.

Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.

5.

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium., Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.

Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.

6.
7.

Leber's congenital amaurosis.

De Laey JJ.

Bull Soc Belge Ophtalmol. 1991;241:41-50. Review.

PMID:
1840995
8.

Hereditary sclerosing glomerulopathy in the conorenal syndrome.

Mendley SR, Poznanski AK, Spargo BH, Langman CB.

Am J Kidney Dis. 1995 May;25(5):792-7.

PMID:
7747734
9.

[Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report].

Costet C, Betis F, Bérard E, Tsimaratos M, Sigaudy S, Antignac C, Gastaud P.

J Fr Ophtalmol. 2000 Feb;23(2):158-60. French.

10.

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C.

Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294.

11.

Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.

Popović-Rolović M, Calić-Perisíc N, Bunjevacki G, Negovanović D.

Arch Dis Child. 1976 Oct;51(10):801-3.

12.

Cone-shaped epiphyses (CSE) in siblings with hereditary renal disease and retinitis pigmentosa.

Saldino RM, Mainzer F.

Radiology. 1971 Jan;98(1):39-45. No abstract available.

PMID:
5100051
13.

Nephronophthisis: a variant.

Hafeez F, Rasool F, Ahmad TM.

J Coll Physicians Surg Pak. 2005 Jun;15(6):368-70.

PMID:
15924846
14.

[Familial nephropathy with retinitis pigmentosa and peripheral dysostosis].

Diekmann L, Louis C, Schulte-Kemna E.

Helv Paediatr Acta. 1977 Nov;32(4-5):375-82. German.

PMID:
617982
15.

Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.

Donaldson MD, Warner AA, Trompeter RS, Haycock GB, Chantler C.

Arch Dis Child. 1985 May;60(5):426-34.

16.

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA.

Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28.

17.

[Coat's type retinitis pigmentosa].

Ide CH, Khan JA, Podolsky TL, Strickland MP, Wilson RJ.

Klin Monbl Augenheilkd. 1987 Mar;190(3):205-6. German.

PMID:
3586543
18.

Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?

Di Rocco M, Picco P, Arslanian A, Restagno G, Perfumo F, Buoncompagni A, Gattorno M, Borrone C.

Am J Med Genet. 1997 Nov 28;73(1):1-4.

PMID:
9375913
19.

Acquired dementia with retinitis pigmentosa.

Grollman EM, Papacostas SS.

J Geriatr Psychiatry Neurol. 1994 Jan-Mar;7(1):18-22.

PMID:
8192825
20.

Does retinitis pigmentosa relate with polycystic kidney disease?

Koçyigit I, Unal A, Ozaslan E, Oymak O, Utas C.

Int Urol Nephrol. 2010 Dec;42(4):1103-5. doi: 10.1007/s11255-010-9709-8. Epub 2010 Jan 29.

PMID:
20111998

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