Literature DB >> 16761295

Renal malformations in deletion 22q11.2 patients.

Annegret Kujat, Marc D Schulz, Sibylle Strenge, Ursula G Froster.   

Abstract

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Year:  2006        PMID: 16761295     DOI: 10.1002/ajmg.a.31289

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  7 in total

1.  Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.

Authors:  Jason P Van Batavia; Terrence B Crowley; Evanette Burrows; Elaine H Zackai; Simone Sanna-Cherchi; Donna M McDonald-McGinn; Thomas F Kolon
Journal:  Am J Med Genet A       Date:  2018-12-24       Impact factor: 2.802

2.  Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Authors:  Esther Lopez-Rivera; Yangfan P Liu; Miguel Verbitsky; Blair R Anderson; Valentina P Capone; Edgar A Otto; Zhonghai Yan; Adele Mitrotti; Jeremiah Martino; Nicholas J Steers; David A Fasel; Katarina Vukojevic; Rong Deng; Silvia E Racedo; Qingxue Liu; Max Werth; Rik Westland; Asaf Vivante; Gabriel S Makar; Monica Bodria; Matthew G Sampson; Christopher E Gillies; Virginia Vega-Warner; Mariarosa Maiorana; Donald S Petrey; Barry Honig; Vladimir J Lozanovski; Rémi Salomon; Laurence Heidet; Wassila Carpentier; Dominique Gaillard; Alba Carrea; Loreto Gesualdo; Daniele Cusi; Claudia Izzi; Francesco Scolari; Joanna A E van Wijk; Adela Arapovic; Mirna Saraga-Babic; Marijan Saraga; Nenad Kunac; Ali Samii; Donna M McDonald-McGinn; Terrence B Crowley; Elaine H Zackai; Dorota Drozdz; Monika Miklaszewska; Marcin Tkaczyk; Przemyslaw Sikora; Maria Szczepanska; Malgorzata Mizerska-Wasiak; Grazyna Krzemien; Agnieszka Szmigielska; Marcin Zaniew; John M Darlow; Prem Puri; David Barton; Emilio Casolari; Susan L Furth; Bradley A Warady; Zoran Gucev; Hakon Hakonarson; Hana Flogelova; Velibor Tasic; Anna Latos-Bielenska; Anna Materna-Kiryluk; Landino Allegri; Craig S Wong; Iain A Drummond; Vivette D'Agati; Akira Imamoto; Jonathan M Barasch; Friedhelm Hildebrandt; Krzysztof Kiryluk; Richard P Lifton; Bernice E Morrow; Cecile Jeanpierre; Virginia E Papaioannou; Gian Marco Ghiggeri; Ali G Gharavi; Nicholas Katsanis; Simone Sanna-Cherchi
Journal:  N Engl J Med       Date:  2017-01-25       Impact factor: 91.245

3.  Increased Tbx1 expression may play a role via TGFβ-Smad2/3 signaling pathway in acute kidney injury induced by gentamicin.

Authors:  Hongkun Jiang; Lei Li; Jesse Li-Ling; Guangrong Qiu; Zhibin Niu; Hong Jiang; Yunpeng Li; Yaoguo Huang; Kailai Sun
Journal:  Int J Clin Exp Pathol       Date:  2014-03-15

4.  Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.

Authors:  Miguel Verbitsky; Priya Krithivasan; Ekaterina Batourina; Atlas Khan; Sarah E Graham; Maddalena Marasà; Hyunwoo Kim; Tze Y Lim; Patricia L Weng; Elena Sánchez-Rodríguez; Adele Mitrotti; Dina F Ahram; Francesca Zanoni; David A Fasel; Rik Westland; Matthew G Sampson; Jun Y Zhang; Monica Bodria; Byum Hee Kil; Shirlee Shril; Loreto Gesualdo; Fabio Torri; Francesco Scolari; Claudia Izzi; Joanna A E van Wijk; Marijan Saraga; Domenico Santoro; Giovanni Conti; David E Barton; Mark G Dobson; Prem Puri; Susan L Furth; Bradley A Warady; Isabella Pisani; Enrico Fiaccadori; Landino Allegri; Maria Ludovica Degl'Innocenti; Giorgio Piaggio; Shumyle Alam; Maddalena Gigante; Gianluigi Zaza; Pasquale Esposito; Fangming Lin; Ana Cristina Simões-E-Silva; Andrzej Brodkiewicz; Dorota Drozdz; Katarzyna Zachwieja; Monika Miklaszewska; Maria Szczepanska; Piotr Adamczyk; Marcin Tkaczyk; Daria Tomczyk; Przemyslaw Sikora; Malgorzata Mizerska-Wasiak; Grazyna Krzemien; Agnieszka Szmigielska; Marcin Zaniew; Vladimir J Lozanovski; Zoran Gucev; Iuliana Ionita-Laza; Ian B Stanaway; David R Crosslin; Craig S Wong; Friedhelm Hildebrandt; Jonathan Barasch; Eimear E Kenny; Ruth J F Loos; Brynn Levy; Gian Marco Ghiggeri; Hakon Hakonarson; Anna Latos-Bieleńska; Anna Materna-Kiryluk; John M Darlow; Velibor Tasic; Cristen Willer; Krzysztof Kiryluk; Simone Sanna-Cherchi; Cathy L Mendelsohn; Ali G Gharavi
Journal:  J Am Soc Nephrol       Date:  2021-02-17       Impact factor: 14.978

5.  Genetic background influences tumour development in heterozygous Men1 knockout mice.

Authors:  Kate E Lines; Mahsa Javid; Anita A C Reed; Gerard V Walls; Mark Stevenson; Michelle Simon; Kreepa G Kooblall; Sian E Piret; Paul T Christie; Paul J Newey; Ann-Marie Mallon; Rajesh V Thakker
Journal:  Endocr Connect       Date:  2020-05       Impact factor: 3.335

Review 6.  The term CAKUT has outlived its usefulness: the case for the defense.

Authors:  Nine V A M Knoers
Journal:  Pediatr Nephrol       Date:  2022-07-22       Impact factor: 3.651

7.  22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report.

Authors:  M Vachette; G E Grant; J Bouquet de la Joliniere; M Jotterand; N Ben Ali; A Feki; R Capoccia Brugger
Journal:  Front Med (Lausanne)       Date:  2016-11-28
  7 in total

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