Literature DB >> 21326282

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.

Matthew Bower1, Michael Eccles, Laurence Heidet, Lisa A Schimmenti.   

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Year:  2011        PMID： 21326282      PMCID： PMC3179354          DOI： 10.1038/ejhg.2011.16

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  28 in total

1.  PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.

Authors:  J Amiel; S Audollent; D Joly; P Dureau; R Salomon; A L Tellier; J Augé; F Bouissou; C Antignac; M C Gubler; M R Eccles; A Munnich; M Vekemans; S Lyonnet; T Attié-Bitach
Journal:  Eur J Hum Genet       Date:  2000-11       Impact factor: 4.246

2.  Expression of the PAX2 gene in human fetal kidney and Wilms' tumor.

Authors:  M R Eccles; L J Wallis; A E Fidler; N K Spurr; P J Goodfellow; A E Reeve
Journal:  Cell Growth Differ       Date:  1992-05

3.  Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.

Authors:  B Ford; R Rupps; D Lirenman; M I Van Allen; D Farquharson; C Lyons; J M Friedman
Journal:  Am J Med Genet       Date:  2001-03-01

4.  PAX2 gene mutation in a family with isolated renal hypoplasia.

Authors:  Kaori Nishimoto; Kazumoto Iijima; Taku Shirakawa; Kousaku Kitagawa; Kenichi Satomura; Hajime Nakamura; Norishige Yoshikawa
Journal:  J Am Soc Nephrol       Date:  2001-08       Impact factor: 10.121

5.  Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

Authors:  L A Schimmenti; H H Shim; J D Wirtschafter; V A Panzarino; C E Kashtan; S J Kirkpatrick; D S Wargowski; T D France; E Michel; W B Dobyns
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

6.  Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

Authors:  S Porteous; E Torban; N P Cho; H Cunliffe; L Chua; L McNoe; T Ward; C Souza; P Gus; R Giugliani; T Sato; K Yun; J Favor; M Sicotte; P Goodyer; M Eccles
Journal:  Hum Mol Genet       Date:  2000-01-01       Impact factor: 6.150

7.  Renal-coloboma syndrome: report of a novel PAX2 gene mutation.

Authors:  G W Chung; A O Edwards; L A Schimmenti; G S Manligas; Y H Zhang; R Ritter
Journal:  Am J Ophthalmol       Date:  2001-12       Impact factor: 5.258

8.  Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.

Authors:  C F Parsa; E D Silva; O H Sundin; M F Goldberg; M R De Jong; J S Sunness; R Zeimer; D G Hunter
Journal:  Ophthalmology       Date:  2001-04       Impact factor: 12.079

9.  Renal coloboma syndrome.

Authors:  P Dureau; T Attie-Bitach; R Salomon; O Bettembourg; J Amiel; Y Uteza; J L Dufier
Journal:  Ophthalmology       Date:  2001-10       Impact factor: 12.079

10.  Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.

Authors:  Lisa A Schimmenti; Glenda S Manligas; Paul A Sieving
Journal:  Ophthalmic Genet       Date:  2003-12       Impact factor: 1.803
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  5 in total

Review 1.  Genetics of vesicoureteral reflux.

Authors:  Prem Puri; Jan-Hendrik Gosemann; John Darlow; David E Barton
Journal:  Nat Rev Urol       Date:  2011-08-23       Impact factor: 14.432

2.  Genetics of Vesicoureteral Reflux.

Authors:  F Nino; M Ilari; C Noviello; L Santoro; I M Rätsch; A Martino; G Cobellis
Journal:  Curr Genomics       Date:  2016-02       Impact factor: 2.236

Review 3.  Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.

Authors:  Keum Hwa Lee; Heon Yung Gee; Jae Il Shin
Journal:  Investig Clin Urol       Date:  2017-06-07

4.  De Novo PAX2 Mutation With Associated Papillorenal Syndrome: A Case Report and Literature Review of Penetrance and Expressivity.

Authors:  Maryam Ali; Michael Chang; Monique Leys
Journal:  Cureus       Date:  2022-09-11

Review 5.  Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.

Authors:  Yuliya Markitantova; Vladimir Simirskii
Journal:  Int J Mol Sci       Date:  2020-02-26       Impact factor: 5.923
  5 in total

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