Heloisa Goncalves dos Santos
AuthID: R-00G-CE3
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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
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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
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TITLE: Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances
AUTHORS: Joana Barbosa Melo ; Liesbeth Backx; Joris R Vermeesch; Heloisa G Santos; Ana C Sousa; Nadezda Kosyakova; Anja Weise; Ferdinand von Eggeling; Thomas Liehr; Isabel Marques Carreira ;
PUBLISHED: 2011, SOURCE: JOURNAL OF APPLIED GENETICS, VOLUME: 52, ISSUE: 2
AUTHORS: Joana Barbosa Melo ; Liesbeth Backx; Joris R Vermeesch; Heloisa G Santos; Ana C Sousa; Nadezda Kosyakova; Anja Weise; Ferdinand von Eggeling; Thomas Liehr; Isabel Marques Carreira ;
PUBLISHED: 2011, SOURCE: JOURNAL OF APPLIED GENETICS, VOLUME: 52, ISSUE: 2
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TITLE: Duplications of noncoding elements 5 ' of SOX9 are associated with brachydactyly-anonychia Full Text
AUTHORS: Ingo Kurth; Eva Klopocki; Sigmar Stricker; Jolieke van Oosterwijk; Sebastian Vanek; Jens Altmann; Heliosa G Santos; Jeske J T van Harssel; Thomy de Ravel; Andrew O M Wilkie; Andreas Gal; Stefan Mundlos;
PUBLISHED: 2009, SOURCE: NATURE GENETICS, VOLUME: 41, ISSUE: 8
AUTHORS: Ingo Kurth; Eva Klopocki; Sigmar Stricker; Jolieke van Oosterwijk; Sebastian Vanek; Jens Altmann; Heliosa G Santos; Jeske J T van Harssel; Thomy de Ravel; Andrew O M Wilkie; Andreas Gal; Stefan Mundlos;
PUBLISHED: 2009, SOURCE: NATURE GENETICS, VOLUME: 41, ISSUE: 8
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TITLE: Muenke Syndrome With Osteochondroma Full Text
AUTHORS: Mafalda Barbosa; Maria do Rosario Almeida; Margarida Reis Lima; Jorge Pinto Basto; Heloisa Goncalves dos Santos;
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 2
AUTHORS: Mafalda Barbosa; Maria do Rosario Almeida; Margarida Reis Lima; Jorge Pinto Basto; Heloisa Goncalves dos Santos;
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 2
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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
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TITLE: Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS (vol 143A, pg 355, 2007) Full Text
AUTHORS: Heloisa G Santos; Maria Almeida; Helena Fernandes; Andrew Wilkie;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 9
AUTHORS: Heloisa G Santos; Maria Almeida; Helena Fernandes; Andrew Wilkie;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 9
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TITLE: Brachydactyly type B: Linkage to chromosome 9q22 and evidence for genetic heterogeneity
AUTHORS: Oldridge, M; Temple, IK; Santos, HG; Gibbons, RJ; Mustafa, Z; Chapman, KE; Loughlin, J; Wilkie, AOM;
PUBLISHED: 1999, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 64, ISSUE: 2
AUTHORS: Oldridge, M; Temple, IK; Santos, HG; Gibbons, RJ; Mustafa, Z; Chapman, KE; Loughlin, J; Wilkie, AOM;
PUBLISHED: 1999, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 64, ISSUE: 2
