Literature DB >> 28456345

Urinary Anomalies in 22q11.2 Deletion (DiGeorge syndrome): From Copy Number Variations to Single-Gene Determinants of Phenotype.

Gentzon Hall1, Jonathan C Routh1, Rasheed A Gbadegesin2.   

Abstract

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Year:  2017        PMID： 28456345      PMCID： PMC5890439          DOI： 10.1053/j.ajkd.2017.03.017

Source DB:  PubMed          Journal:  Am J Kidney Dis        ISSN： 0272-6386            Impact factor:   8.860


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  23 in total

Review 1.  Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

Authors:  Asaf Vivante; Stefan Kohl; Daw-Yang Hwang; Gabriel C Dworschak; Friedhelm Hildebrandt
Journal:  Pediatr Nephrol       Date:  2014-01-08       Impact factor: 3.714

Review 2.  Translating genetic findings in hereditary nephrotic syndrome: the missing loops.

Authors:  Gentzon Hall; Rasheed A Gbadegesin
Journal:  Am J Physiol Renal Physiol       Date:  2015-03-25

Review 3.  Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT.

Authors:  Iekuni Ichikawa; Fumiyo Kuwayama; John C Pope; F Douglas Stephens; Yoichi Miyazaki
Journal:  Kidney Int       Date:  2002-03       Impact factor: 10.612

4.  Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

Authors:  Weining Lu; Albertien M van Eerde; Xueping Fan; Fabiola Quintero-Rivera; Shashikant Kulkarni; Heather Ferguson; Hyung-Goo Kim; Yanli Fan; Qiongchao Xi; Qing-Gang Li; Damien Sanlaville; William Andrews; Vasi Sundaresan; Weimin Bi; Jiong Yan; Jacques C Giltay; Cisca Wijmenga; Tom P V M de Jong; Sally A Feather; Adrian S Woolf; Yi Rao; James R Lupski; Michael R Eccles; Bradley J Quade; James F Gusella; Cynthia C Morton; Richard L Maas
Journal:  Am J Hum Genet       Date:  2007-02-14       Impact factor: 11.025

Review 5.  Crk family adaptors-signalling complex formation and biological roles.

Authors:  S M Feller
Journal:  Oncogene       Date:  2001-10-01       Impact factor: 9.867

Review 6.  Renal abnormalities and their developmental origin.

Authors:  Andreas Schedl
Journal:  Nat Rev Genet       Date:  2007-10       Impact factor: 53.242

Review 7.  Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes.

Authors:  Lisa J Kobrynski; Kathleen E Sullivan
Journal:  Lancet       Date:  2007-10-20       Impact factor: 79.321

Review 8.  Cell and molecular biology of kidney development.

Authors:  Kimberly J Reidy; Norman D Rosenblum
Journal:  Semin Nephrol       Date:  2009-07       Impact factor: 5.299

9.  Role of TBX1 in human del22q11.2 syndrome.

Authors:  Hisato Yagi; Yoshiyuki Furutani; Hiromichi Hamada; Takashi Sasaki; Shuichi Asakawa; Shinsei Minoshima; Fukiko Ichida; Kunitaka Joo; Misa Kimura; Shin-ichiro Imamura; Naoyuki Kamatani; Kazuo Momma; Atsuyoshi Takao; Makoto Nakazawa; Nobuyoshi Shimizu; Rumiko Matsuoka
Journal:  Lancet       Date:  2003-10-25       Impact factor: 79.321

10.  Crk and CrkL adaptor proteins: networks for physiological and pathological signaling.

Authors:  Raymond B Birge; Charalampos Kalodimos; Fuyuhiko Inagaki; Shinya Tanaka
Journal:  Cell Commun Signal       Date:  2009-05-10       Impact factor: 5.712
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  1 in total

1.  Care of Children with DiGeorge Before and After Cultured Thymus Tissue Implantation.

Authors:  Stephanie E Gupton; Elizabeth A McCarthy; M Louise Markert
Journal:  J Clin Immunol       Date:  2021-05-18       Impact factor: 8.542
  1 in total

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