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Items: 1 to 20 of 113

1.

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.

Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M.

Nat Genet. 1997 Oct;17(2):149-53.

PMID:
9326933
2.

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.

Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C.

Hum Mol Genet. 1997 Dec;6(13):2317-23.

PMID:
9361039
4.

A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints.

Otto E, Betz R, Rensing C, Schätzle S, Kuntzen T, Vetsi T, Imm A, Hildebrandt F.

Hum Mutat. 2000 Sep;16(3):211-23.

PMID:
10980528
5.

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S.

Nat Genet. 2002 Oct;32(2):300-5. Epub 2002 Sep 9. Erratum in: Nat Genet 2002 Nov;32(3):459.

PMID:
12244321
6.

Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis.

Heninger E, Otto E, Imm A, Caridi G, Hildebrandt F.

Am J Kidney Dis. 2001 Jun;37(6):1131-9.

PMID:
11382680
7.

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C.

Am J Hum Genet. 2000 Mar;66(3):778-89.

8.

Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.

Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F.

J Pediatr. 2000 Jun;136(6):828-31.

PMID:
10839884
9.

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.

Otto EA, Helou J, Allen SJ, O'Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F.

Hum Mutat. 2008 Mar;29(3):418-26.

10.

Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans.

Otto E, Kispert A, Schätzle, Lescher B, Rensing C, Hildebrandt F.

J Am Soc Nephrol. 2000 Feb;11(2):270-82.

11.

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.

Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C.

Hum Mol Genet. 1996 Mar;5(3):367-71.

PMID:
8852662
12.

Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13.

Nothwang HG, Stubanus M, Adolphs J, Hanusch H, Vossmerbäumer U, Denich D, Kübler M, Mincheva A, Lichter P, Hildebrandt F.

Genomics. 1998 Jan 15;47(2):276-85.

PMID:
9479500
13.

Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis.

le Maire A, Weber T, Saunier S, Broutin I, Antignac C, Ducruix A, Dardel F.

Proteins. 2005 May 1;59(2):347-55.

PMID:
15723349
14.

Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.

Hildebrandt F, Rensing C, Betz R, Sommer U, Birnbaum S, Imm A, Omran H, Leipoldt M, Otto E; Arbeitsgemeinschaft für Paediatrische Nephrologie (APN) Study Group.

Kidney Int. 2001 Feb;59(2):434-45.

15.

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F.

Am J Hum Genet. 2002 Nov;71(5):1161-7. Epub 2002 Aug 29.

16.

The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.

Lee PL, Gelbart T, West C, Halloran C, Beutler E.

Blood Cells Mol Dis. 1998 Jun;24(2):199-215.

PMID:
9642100
17.

Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon.

Guipponi M, Scott HS, Chen H, Schebesta A, Rossier C, Antonarakis SE.

Genomics. 1998 Nov 1;53(3):369-76.

PMID:
9799604
18.

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.

Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S.

J Am Soc Nephrol. 2007 May;18(5):1566-75. Epub 2007 Apr 4.

19.

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.

Bollée G, Fakhouri F, Karras A, Noël LH, Salomon R, Servais A, Lesavre P, Morinière V, Antignac C, Hummel A.

Nephrol Dial Transplant. 2006 Sep;21(9):2660-3. Epub 2006 Jun 17. No abstract available.

PMID:
16782989
20.

New insights: nephronophthisis-medullary cystic kidney disease.

Hildebrandt F, Omram H.

Pediatr Nephrol. 2001 Feb;16(2):168-76. Review.

PMID:
11261687

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