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Literature DB >> 10577936

Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.

S Bolk, E G Puffenberger, J Hudson, D H Morton, A Chakravarti.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 1999 PMID： 10577936 PMCID： PMC1288392 DOI： 10.1086/302687

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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10 in total

1. BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences.

Authors: T A Tatusova; T L Madden
Journal: FEMS Microbiol Lett Date: 1999-05-15 Impact factor: 2.742

2. Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population.

Authors: A Fuchshuber; P Niaudet; O Gribouval; G Jean; M C Gubler; M Broyer; C Antignac
Journal: Pediatr Nephrol Date: 1996-04 Impact factor: 3.714

3. Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1.

Authors: M Männikkö; M Kestailä; C Holmberg; R Norio; M Ryynänen; A Olsen; L Peltonen; K Tryggvason
Journal: Am J Hum Genet Date: 1995-12 Impact factor: 11.025

4. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.

Authors: E G Puffenberger; E R Kauffman; S Bolk; T C Matise; S S Washington; M Angrist; J Weissenbach; K L Garver; M Mascari; R Ladda
Journal: Hum Mol Genet Date: 1994-08 Impact factor: 6.150

5. Heredity in the congenital nephrotic syndrome. A genetic study of 57 finnish FAMILIES WITH A REVIEW OF REPORTED CASES.

Authors: R Norio
Journal: Ann Paediatr Fenn Date: 1966

6. Adequate clinical control of congenital nephrotic syndrome by enalapril.

Authors: S Guez; M Giani; M L Melzi; C Antignac; B M Assael
Journal: Pediatr Nephrol Date: 1998-02 Impact factor: 3.714

7. Haplotype analysis of congenital nephrotic syndrome of the Finnish type in non-Finnish families.

Authors: M Männikkö; U Lenkkeri; C E Kashtan; M Kestilä; C Holmberg; K Tryggvason
Journal: J Am Soc Nephrol Date: 1996-12 Impact factor: 10.121

8. Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone.

Authors: A Chakravarti; R Chakraborty
Journal: Am J Hum Genet Date: 1978-05 Impact factor: 11.025

9. Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.

Authors: M Kestilä; U Lenkkeri; M Männikkö; J Lamerdin; P McCready; H Putaala; V Ruotsalainen; T Morita; M Nissinen; R Herva; C E Kashtan; L Peltonen; C Holmberg; A Olsen; K Tryggvason
Journal: Mol Cell Date: 1998-03 Impact factor: 17.970

10. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

Authors: U Lenkkeri; M Männikkö; P McCready; J Lamerdin; O Gribouval; P M Niaudet; K Antignac C; C E Kashtan; C Homberg; A Olsen; M Kestilä; K Tryggvason
Journal: Am J Hum Genet Date: 1999-01 Impact factor: 11.025

10 in total

13 in total

1. Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).

Authors: Hanne Laakkonen; Tuula Lönnqvist; Johanna Uusimaa; Erik Qvist; Leena Valanne; Matti Nuutinen; Marja Ala-Houhala; Kari Majamaa; Hannu Jalanko; Christer Holmberg
Journal: Pediatr Nephrol Date: 2005-12-17 Impact factor: 3.714

2. A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?

Authors: Lara Gharibeh; Inaam El-Rassy; Ayman Soubra; Raya Safa; Akl Fahed; Rachel Tanos; Mariam Arabi; Zakaria Kambris; Fadi Bitar; Georges Nemer
Journal: J Genet Date: 2015-06 Impact factor: 1.166

3. Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.

Authors: Ibtihel Benhaj Mbarek; Saoussen Abroug; Asma Omezzine; Audrey Pawtowski; Marie Claire Gubler; Ali Bouslama; Abdelaziz Harbi; Corinne Antignac
Journal: Pediatr Nephrol Date: 2010-12-02 Impact factor: 3.714

4. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin.

Authors: K Schwarz; M Simons; J Reiser; M A Saleem; C Faul; W Kriz; A S Shaw; L B Holzman; P Mundel
Journal: J Clin Invest Date: 2001-12 Impact factor: 14.808

Review 5. Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.

Authors: Geneviève Benoit; Eduardo Machuca; Corinne Antignac
Journal: Pediatr Nephrol Date: 2010-03-24 Impact factor: 3.714

Review 6. [Pathogenetic aspectics of nephrotic syndrome].

Authors: G Walz
Journal: Internist (Berl) Date: 2003-09 Impact factor: 0.743

7. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.

Authors: Erik G Puffenberger; Diane Hu-Lince; Jennifer M Parod; David W Craig; Seth E Dobrin; Andrew R Conway; Elizabeth A Donarum; Kevin A Strauss; Travis Dunckley; Javier F Cardenas; Kara R Melmed; Courtney A Wright; Winnie Liang; Phillip Stafford; C Robert Flynn; D Holmes Morton; Dietrich A Stephan
Journal: Proc Natl Acad Sci U S A Date: 2004-07-23 Impact factor: 11.205