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Items: 1 to 20 of 101

1.

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
2.
4.

[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
5.
6.

Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex.

Avasthi PS, Erickson DG, Gardner KD.

Ann Intern Med. 1976 Feb;84(2):157-61.

PMID:
766680
7.

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
8.

Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes.

Kumada S, Hayashi M, Arima K, Nakayama H, Sugai K, Sasaki M, Kurata K, Nagata M.

Am J Med Genet A. 2004 Nov 15;131(1):71-6.

PMID:
15384098
9.

Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.

Giedion A, Prader A, Fliegel C, Krasikov N, Langer L, Poznanski A.

Am J Med Genet. 1993 Oct 1;47(5):765-71.

PMID:
8267010
10.

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
11.

Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins.

Delaney V, Mullaney J, Bourke E.

Q J Med. 1978 Jul;47(187):281-90.

PMID:
568809
12.

Familial juvenile nephronophthisis and renal transplantation in two siblings.

Yoshida A, Morozumi K, Koyama K, Takeda A, Uchida K, Tominaga Y, Oikawa T, Fujinami T, Takagi H.

Nihon Jinzo Gakkai Shi. 1992 Sep;34(9):1035-9.

PMID:
1479732
13.

Retrospective diagnosis of Jeune's syndrome in two patients with chronic renal failure.

Ring E, Zobel G, Ratschek M, Trop M, Wendler H.

Child Nephrol Urol. 1990;10(2):88-91.

PMID:
2253258
14.

Nephronophthisis-like nephritis associated with fibrous dysplasia of bone.

Bacchetta J, Chapurlat R, Bouvier R, Antignac C, Dubourg L, Kohler R, Delmas PD, Cochat P.

Pediatr Nephrol. 2008 Sep;23(9):1559-63. doi: 10.1007/s00467-008-0850-x. Epub 2008 May 30.

PMID:
18512082
15.

"Nephronophthisis-congenital hepatic fibrosis": an additional hepatorenal disorder.

Witzleben CL, Sharp AR.

Hum Pathol. 1982 Aug;13(8):728-33.

PMID:
7106736
16.

Juvenile nephronophthisis and medullary cystic disease.

Chamberlin BC, Hagge WW, Stickler GB.

Mayo Clin Proc. 1977 Aug;52(8):485-91.

PMID:
881899
17.

Medullary cystic disease and juvenile nephronophthisis in separate members of the same family.

Sworn MJ, Eisinger AJ.

Arch Dis Child. 1972 Apr;47(252):278-81. No abstract available.

18.

Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.

Kaplan BS, Bellah RD.

Am J Med Genet. 1999 Dec 22;87(5):426-9.

PMID:
10594882
19.

Wedge-shaped epiphyses of the knees in two siblings: a new recessive rare dysplasia?

Bellini F, Chiumello G, Rimoldi R, Weber G.

Helv Paediatr Acta. 1984 Oct;39(4):365-72.

PMID:
6543849
20.

Morphometric studies of cystic and tubulointerstitial kidney diseases with hepatic fibrosis in children.

Landing BH, Wells TR, Lipsey AI, Oyemade OA.

Pediatr Pathol. 1990;10(6):959-72.

PMID:
2082340
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