Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Renal and urological tract malformations caused by a 22q11 deletion.

Literature DB >> 8730297

Renal and urological tract malformations caused by a 22q11 deletion.

K Devriendt, A Swillen, J P Fryns, W Proesmans, M Gewillig.

Abstract

Entities: Disease

Mesh：

Year: 1996 PMID： 8730297 PMCID： PMC1050591 DOI： 10.1136/jmg.33.4.349

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

× No keyword cloud information.

10 in total

1. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

Authors: D A Driscoll; M L Budarf; B S Emanuel
Journal: Am J Hum Genet Date: 1992-05 Impact factor: 11.025

Review 2. Embryologic basis for lower ureteral anomalies: a hypothesis.

Authors: E A Tanagho
Journal: Urology Date: 1976-05 Impact factor: 2.649

3. Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.

Authors: A Heimler; E Lieber
Journal: Am J Med Genet Date: 1986-09

4. DiGeorge syndrome: part of CATCH 22.

Authors: D I Wilson; J Burn; P Scambler; J Goodship
Journal: J Med Genet Date: 1993-10 Impact factor: 6.318

Review 5. Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anomaly.

Authors: J Palacios; C Gamallo; M García; J I Rodríguez
Journal: Am J Med Genet Date: 1993-07-01

6. The spectrum of the DiGeorge syndrome.

Authors: M E Conley; J B Beckwith; J F Mancer; L Tenckhoff
Journal: J Pediatr Date: 1979-06 Impact factor: 4.406

7. The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients.

Authors: P Meinecke; F A Beemer; A Schinzel; T Kushnick
Journal: Eur J Pediatr Date: 1986-12 Impact factor: 3.183

8. Clinical and molecular study of DiGeorge sequence.

Authors: A Levy-Mozziconacci; F Wernert; P Scambler; F Rouault; D Metras; B Kreitman; D Depetris; M G Mattei; N Philip
Journal: Eur J Pediatr Date: 1994-11 Impact factor: 3.183

9. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret.

Authors: A Schuchardt; V D'Agati; L Larsson-Blomberg; F Costantini; V Pachnis
Journal: Nature Date: 1994-01-27 Impact factor: 49.962

10. Hereditary renal adysplasia: new observations and hypotheses.

Authors: P Moerman; J P Fryns; S H Sastrowijoto; K Vandenberghe; J M Lauweryns
Journal: Pediatr Pathol Date: 1994 May-Jun

10 in total

14 in total

1. Radial aplasia and chromosome 22q11 deletion.

Authors: M C Digilio; A Giannotti; B Marino; A M Guadagni; M Orzalesi; B Dallapiccola
Journal: J Med Genet Date: 1997-11 Impact factor: 6.318

2. Chromosome 22q11 deletion presenting as the Potter sequence.

Authors: K Devriendt; P Moerman; D Van Schoubroeck; K Vandenberghe; J P Fryns
Journal: J Med Genet Date: 1997-05 Impact factor: 6.318

3. 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

4. Microdeletion 22q11 and oesophageal atresia.

Authors: M C Digilio; B Marino; P Bagolan; A Giannotti; B Dallapiccola
Journal: J Med Genet Date: 1999-02 Impact factor: 6.318

5. Vesico-ureteric reflux: using mouse models to understand a common congenital urinary tract defect.

Authors: Inga J Murawski; Christine L Watt; Indra R Gupta
Journal: Pediatr Nephrol Date: 2011-03-20 Impact factor: 3.714

Review 6. Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

Authors: Marta Unolt; Paolo Versacci; Silvia Anaclerio; Caterina Lambiase; Giulio Calcagni; Matteo Trezzi; Adriano Carotti; Terrence Blaine Crowley; Elaine H Zackai; Elizabeth Goldmuntz; James William Gaynor; Maria Cristina Digilio; Donna M McDonald-McGinn; Bruno Marino
Journal: Am J Med Genet A Date: 2018-04-16 Impact factor: 2.802

Review 7. 22q11.2 deletion syndrome.

Authors: Donna M McDonald-McGinn; Kathleen E Sullivan; Bruno Marino; Nicole Philip; Ann Swillen; Jacob A S Vorstman; Elaine H Zackai; Beverly S Emanuel; Joris R Vermeesch; Bernice E Morrow; Peter J Scambler; Anne S Bassett
Journal: Nat Rev Dis Primers Date: 2015-11-19 Impact factor: 52.329