Andrea Superti Furga
AuthID: R-00F-J7W
1
TITLE: Does the clinical phenotype of mucolipidosis-III gamma differ from its alpha beta counterpart?: supporting facts in a cohort of 18 patients
AUTHORS: Sheela Nampoothiri; Nursel H Elcioglu; Suleyman S Koca; Dhanya Yesodharan; Chandrababu, KK; Krishnan V Vinod; Meenakshi Bhat; Nair K Mohandas; Natasha Radhakrishnan; Mahesh Kappanayil; Jayesh J Sheth; Sandra Alves; Francisca Coutinho; Michael J Friez; Richard M Pauli; Sheila Unger; Andrea Superti Furga; Jules G Leroy; Sara S Cathey;
PUBLISHED: 2019, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 28, ISSUE: 1
AUTHORS: Sheela Nampoothiri; Nursel H Elcioglu; Suleyman S Koca; Dhanya Yesodharan; Chandrababu, KK; Krishnan V Vinod; Meenakshi Bhat; Nair K Mohandas; Natasha Radhakrishnan; Mahesh Kappanayil; Jayesh J Sheth; Sandra Alves; Francisca Coutinho; Michael J Friez; Richard M Pauli; Sheila Unger; Andrea Superti Furga; Jules G Leroy; Sara S Cathey;
PUBLISHED: 2019, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 28, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
AUTHORS: Virginie G Peter; Mathieu Quinodoz; Jorge Pinto Basto; Sergio B Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo D Silva; Rosanna Pescini Gobert; Noriko Miyake; Naomichi Matsumoto; Elizabeth C Engle; Sheila Unger; Frederic Shapiro; Andrea Superti Furga; Carlo Rivolta; Belinda Campos Xavier;
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 12
AUTHORS: Virginie G Peter; Mathieu Quinodoz; Jorge Pinto Basto; Sergio B Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo D Silva; Rosanna Pescini Gobert; Noriko Miyake; Naomichi Matsumoto; Elizabeth C Engle; Sheila Unger; Frederic Shapiro; Andrea Superti Furga; Carlo Rivolta; Belinda Campos Xavier;
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 12
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
AUTHORS: Virginie G Peter; Mathieu Quinodoz; Jorge Pinto Basto; Sergio B Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo D Silva; Rosanna Pescini Gobert; Noriko Miyake; Naomichi Matsumoto; Elizabeth C Engle; Sheila Unger; Frederic Shapiro; Andrea Superti Furga; Carlo Rivolta; Belinda Campos Xavier;
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 12
AUTHORS: Virginie G Peter; Mathieu Quinodoz; Jorge Pinto Basto; Sergio B Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo D Silva; Rosanna Pescini Gobert; Noriko Miyake; Naomichi Matsumoto; Elizabeth C Engle; Sheila Unger; Frederic Shapiro; Andrea Superti Furga; Carlo Rivolta; Belinda Campos Xavier;
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 12
INDEXED IN: WOS
WOS4
TITLE: Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
AUTHORS: Celine Huber; Eissa Ali Faqeih; Deborah Bartholdi; Christine Bole Feysot; Zvi Borochowitz; Denise P Cavalcanti; Amandine Frigo; Patrick Nitschke; Joelle Roume; Heloisa G Santos; Stavit A Shalev; Andrea Superti Furga; Anne Lise Delezoide; Martine Le Merrer; Arnold Munnich; Valerie Cormier Daire;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 1
AUTHORS: Celine Huber; Eissa Ali Faqeih; Deborah Bartholdi; Christine Bole Feysot; Zvi Borochowitz; Denise P Cavalcanti; Amandine Frigo; Patrick Nitschke; Joelle Roume; Heloisa G Santos; Stavit A Shalev; Andrea Superti Furga; Anne Lise Delezoide; Martine Le Merrer; Arnold Munnich; Valerie Cormier Daire;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 1
5
TITLE: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice Full Text
AUTHORS: Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton; Tanya M Bardakjian; Adele S Schneider; Nursel Elcioglu; Ferda Ozkinay; Rainer Koenig; ...More
PUBLISHED: 2011, SOURCE: PLOS GENETICS, VOLUME: 7, ISSUE: 7
AUTHORS: Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton; Tanya M Bardakjian; Adele S Schneider; Nursel Elcioglu; Ferda Ozkinay; Rainer Koenig; ...More
PUBLISHED: 2011, SOURCE: PLOS GENETICS, VOLUME: 7, ISSUE: 7
6
TITLE: Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
AUTHORS: Slimane Allali; Carine Le Goff; Isabelle Pressac Diebold; Gwendoline Pfennig; Clementine Mahaut; Nathalie Dagoneau; Yasemin Alanay; Angela F Brady; Yanick J Crow; Koen Devriendt; Valerie Drouin Garraud; Elisabeth Flori; David Genevieve; Raoul C Hennekam; Jane Hurst; Deborah Krakow; Martine Le Merrer; Klaske D Lichtenbelt; Sally A Lynch; Stanislas Lyonnet; ...More
PUBLISHED: 2011, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 48, ISSUE: 6
AUTHORS: Slimane Allali; Carine Le Goff; Isabelle Pressac Diebold; Gwendoline Pfennig; Clementine Mahaut; Nathalie Dagoneau; Yasemin Alanay; Angela F Brady; Yanick J Crow; Koen Devriendt; Valerie Drouin Garraud; Elisabeth Flori; David Genevieve; Raoul C Hennekam; Jane Hurst; Deborah Krakow; Martine Le Merrer; Klaske D Lichtenbelt; Sally A Lynch; Stanislas Lyonnet; ...More
PUBLISHED: 2011, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 48, ISSUE: 6
7
TITLE: Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome Full Text
AUTHORS: Margot E Bowen; Eric D Boyden; Ingrid A Holm; Belinda Campos Xavier; Luisa Bonafe; Andrea Superti Furga; Shiro Ikegawa; Valerie Cormier Daire; Judith V Bovee; Twinkal C Pansuriya; Sergio B de Sousa; Ravi Savarirayan; Elena Andreucci; Miikka Vikkula; Livia Garavelli; Caroline Pottinger; Toshihiko Ogino; Akinori Sakai; Bianca M Regazzoni; Wim Wuyts; ...More
PUBLISHED: 2011, SOURCE: PLOS GENETICS, VOLUME: 7, ISSUE: 4
AUTHORS: Margot E Bowen; Eric D Boyden; Ingrid A Holm; Belinda Campos Xavier; Luisa Bonafe; Andrea Superti Furga; Shiro Ikegawa; Valerie Cormier Daire; Judith V Bovee; Twinkal C Pansuriya; Sergio B de Sousa; Ravi Savarirayan; Elena Andreucci; Miikka Vikkula; Livia Garavelli; Caroline Pottinger; Toshihiko Ogino; Akinori Sakai; Bianca M Regazzoni; Wim Wuyts; ...More
PUBLISHED: 2011, SOURCE: PLOS GENETICS, VOLUME: 7, ISSUE: 4
8
TITLE: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-beta Signaling Pathways Full Text
AUTHORS: Toshiyuki Fukada; Natacha Civic; Tatsuya Furuichi; Shinji Shimoda; Kenji Mishima; Hiroyuki Higashiyama; Yayoi Idaira; Yoshinobu Asada; Hiroshi Kitamura; Satoru Yamasaki; Shintaro Hojyo; Manabu Nakayama; Osamu Ohara; Haruhiko Koseki; Heloisa G dos Santos; Luisa Bonafe; Russia Ha Vinh; Andreas Zankl; Sheila Unger; Marius E Kraenzlin; ...More
PUBLISHED: 2008, SOURCE: PLOS ONE, VOLUME: 3, ISSUE: 11
AUTHORS: Toshiyuki Fukada; Natacha Civic; Tatsuya Furuichi; Shinji Shimoda; Kenji Mishima; Hiroyuki Higashiyama; Yayoi Idaira; Yoshinobu Asada; Hiroshi Kitamura; Satoru Yamasaki; Shintaro Hojyo; Manabu Nakayama; Osamu Ohara; Haruhiko Koseki; Heloisa G dos Santos; Luisa Bonafe; Russia Ha Vinh; Andreas Zankl; Sheila Unger; Marius E Kraenzlin; ...More
PUBLISHED: 2008, SOURCE: PLOS ONE, VOLUME: 3, ISSUE: 11
