Literature DB >> 33420968

Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion.

Stefania Drovandi1, Martina Servetti2,3, Andrea Angeletti4, Aldamaria Puliti2,3, Patrizia Ronchetto5, Elisa Tassano5, Gian Marco Ghiggeri4, Gianluca Caridi6,7.   

Abstract

Entities:  

Keywords:  CLCN5; Dent disease; Hypophosphatemic rickets; SHROOMS4; USP27X

Mesh：

Year:  2021        PMID： 33420968     DOI： 10.1007/s40620-020-00959-y

Source DB:  PubMed          Journal:  J Nephrol        ISSN： 1121-8428            Impact factor:   3.902


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  7 in total

1.  Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

Authors:  Olivier Hagens; Aline Dubos; Fatima Abidi; Gotthold Barbi; Laura Van Zutven; Maria Hoeltzenbein; Niels Tommerup; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Hans van Bokhoven; Jozef Gécz; Hélène Dollfus; Hans-Hilger Ropers; Charles E Schwartz; Rita de Cassia Stocco Dos Santos; Vera Kalscheuer; André Hanauer
Journal:  Hum Genet       Date:  2005-10-26       Impact factor: 4.132

2.  An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.

Authors:  Dawn L Thiselton; Jennifer McDowall; Oliver Brandau; Juliane Ramser; Fabiana d'Esposito; Shomi S Bhattacharya; Mark T Ross; Alison J Hardcastle; Alfons Meindl
Journal:  Genomics       Date:  2002-04       Impact factor: 5.736

3.  Autism-associated familial microdeletion of Xp11.22.

Authors:  Y Qiao; X Liu; C Harvard; M J Hildebrand; E Rajcan-Separovic; J J A Holden; M E S Lewis
Journal:  Clin Genet       Date:  2008-05-21       Impact factor: 4.438

4.  Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.

Authors:  Magdalena Danyel; Eun Kyung Suk; Vera Raile; Jutta Gellermann; Alexej Knaus; Denise Horn
Journal:  BMC Med Genomics       Date:  2019-01-10       Impact factor: 3.063

5.  X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Authors:  H Hu; S A Haas; J Chelly; H Van Esch; M Raynaud; A P M de Brouwer; S Weinert; G Froyen; S G M Frints; F Laumonnier; T Zemojtel; M I Love; H Richard; A-K Emde; M Bienek; C Jensen; M Hambrock; U Fischer; C Langnick; M Feldkamp; W Wissink-Lindhout; N Lebrun; L Castelnau; J Rucci; R Montjean; O Dorseuil; P Billuart; T Stuhlmann; M Shaw; M A Corbett; A Gardner; S Willis-Owen; C Tan; K L Friend; S Belet; K E P van Roozendaal; M Jimenez-Pocquet; M-P Moizard; N Ronce; R Sun; S O'Keeffe; R Chenna; A van Bömmel; J Göke; A Hackett; M Field; L Christie; J Boyle; E Haan; J Nelson; G Turner; G Baynam; G Gillessen-Kaesbach; U Müller; D Steinberger; B Budny; M Badura-Stronka; A Latos-Bieleńska; L B Ousager; P Wieacker; G Rodríguez Criado; M-L Bondeson; G Annerén; A Dufke; M Cohen; L Van Maldergem; C Vincent-Delorme; B Echenne; B Simon-Bouy; T Kleefstra; M Willemsen; J-P Fryns; K Devriendt; R Ullmann; M Vingron; K Wrogemann; T F Wienker; A Tzschach; H van Bokhoven; J Gecz; T J Jentsch; W Chen; H-H Ropers; V M Kalscheuer
Journal:  Mol Psychiatry       Date:  2015-02-03       Impact factor: 15.992

Review 6.  Dent disease: A window into calcium and phosphate transport.

Authors:  Franca Anglani; Lisa Gianesello; Lada Beara-Lasic; John Lieske
Journal:  J Cell Mol Med       Date:  2019-08-31       Impact factor: 5.310

Review 7.  Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.

Authors:  Lisa Gianesello; Dorella Del Prete; Franca Anglani; Lorenzo A Calò
Journal:  Hum Genet       Date:  2020-08-29       Impact factor: 4.132
  7 in total

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