Literature DB >> 35372955

Cystic Kidneys in a Patient with Craniofacial Abnormalities.

Allison L Tsao1, C John Sperati2.   

Abstract

Entities:  

Keywords:  brain; cilia; cystic kidney disease; diagnosis; differential; face; genetic testing; genetics; kidney; mouth; nephromegaly; oro-facial-digital syndrome

Mesh：

Year:  2020        PMID： 35372955      PMCID： PMC8815731          DOI： 10.34067/KID.0001332020

Source DB:  PubMed          Journal:  Kidney360        ISSN： 2641-7650


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  5 in total

1.  Clinical spectrum of male patients with OFD1 mutations.

Authors:  Nana Sakakibara; Naoya Morisada; Kandai Nozu; Koji Nagatani; Toshiyuki Ohta; Junya Shimizu; Takuzo Wada; Yuko Shima; Tomohiko Yamamura; Shogo Minamikawa; Junya Fujimura; Tomoko Horinouchi; China Nagano; Akemi Shono; Ming Juan Ye; Yoshimi Nozu; Koichi Nakanishi; Kazumoto Iijima
Journal:  J Hum Genet       Date:  2018-11-06       Impact factor: 3.172

2.  The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

Authors:  S A Feather; A S Woolf; D Donnai; S Malcolm; R M Winter
Journal:  Hum Mol Genet       Date:  1997-07       Impact factor: 6.150

Review 3.  Genes and molecular pathways underpinning ciliopathies.

Authors:  Jeremy F Reiter; Michel R Leroux
Journal:  Nat Rev Mol Cell Biol       Date:  2017-07-12       Impact factor: 94.444

4.  Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.

Authors:  Maria Immacolata Ferrante; Alessandro Zullo; Adriano Barra; Sabrina Bimonte; Nadia Messaddeq; Michèle Studer; Pascal Dollé; Brunella Franco
Journal:  Nat Genet       Date:  2005-11-27       Impact factor: 38.330

Review 5.  Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Authors:  Ange-Line Bruel; Brunella Franco; Yannis Duffourd; Julien Thevenon; Laurence Jego; Estelle Lopez; Jean-François Deleuze; Diane Doummar; Rachel H Giles; Colin A Johnson; Martijn A Huynen; Véronique Chevrier; Lydie Burglen; Manuela Morleo; Isabelle Desguerres; Geneviève Pierquin; Bérénice Doray; Brigitte Gilbert-Dussardier; Bruno Reversade; Elisabeth Steichen-Gersdorf; Clarisse Baumann; Inusha Panigrahi; Anne Fargeot-Espaliat; Anne Dieux; Albert David; Alice Goldenberg; Ernie Bongers; Dominique Gaillard; Jesús Argente; Bernard Aral; Nadège Gigot; Judith St-Onge; Daniel Birnbaum; Shubha R Phadke; Valérie Cormier-Daire; Thibaut Eguether; Gregory J Pazour; Vicente Herranz-Pérez; Jaclyn S Goldstein; Laurent Pasquier; Philippe Loget; Sophie Saunier; André Mégarbané; Olivier Rosnet; Michel R Leroux; John B Wallingford; Oliver E Blacque; Maxence V Nachury; Tania Attie-Bitach; Jean-Baptiste Rivière; Laurence Faivre; Christel Thauvin-Robinet
Journal:  J Med Genet       Date:  2017-03-13       Impact factor: 6.318
  5 in total

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