Sergio Abilio Teixeira Bernardo Sousa
AuthID: R-002-K43
31
TITLE: Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion
AUTHORS: Guillaud G Bataille; Rhayem, Y; Sousa, SB; Libe, R; Dambrun, M; Chevalier, C; Nigou, M; Auzan, C; North, MO; Sa, J; Gomes, L; Salpea, P; Horvath, A; Stratakis, CA; Hamzaoui, N; Bertherat, J; Clauser, E;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF ENDOCRINOLOGY, VOLUME: 170, ISSUE: 1
AUTHORS: Guillaud G Bataille; Rhayem, Y; Sousa, SB; Libe, R; Dambrun, M; Chevalier, C; Nigou, M; Auzan, C; North, MO; Sa, J; Gomes, L; Salpea, P; Horvath, A; Stratakis, CA; Hamzaoui, N; Bertherat, J; Clauser, E;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF ENDOCRINOLOGY, VOLUME: 170, ISSUE: 1
32
TITLE: Intellectual Disability, Coarse Face, Relative Macrocephaly, and Cerebellar Hypotrophy in Two Sisters Full Text
AUTHORS: Sergio B Sousa; Fabiana Ramos; Paula Garcia; Rui P Pais; Catarina Paiva; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C M Hennekam;
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 164, ISSUE: 1
AUTHORS: Sergio B Sousa; Fabiana Ramos; Paula Garcia; Rui P Pais; Catarina Paiva; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C M Hennekam;
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 164, ISSUE: 1
33
TITLE: Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome Full Text
AUTHORS: Sergio B Sousa; Dagan Jenkins; Estelle Chanudet; Guergana Tasseva; Miho Ishida; Glenn Anderson; James Docker; Mina Ryten; Joaquim Sa; Jorge M Saraiva; Angela Barnicoat; Richard Scott; Alistair Calder; Duangrurdee Wattanasirichaigoon; Krystyna Chrzanowska; Martina Simandlova; Lionel Van Maldergem; Philip Stanier; Philip L Beales; Jean E Vance; ...More
PUBLISHED: 2014, SOURCE: NATURE GENETICS, VOLUME: 46, ISSUE: 1
AUTHORS: Sergio B Sousa; Dagan Jenkins; Estelle Chanudet; Guergana Tasseva; Miho Ishida; Glenn Anderson; James Docker; Mina Ryten; Joaquim Sa; Jorge M Saraiva; Angela Barnicoat; Richard Scott; Alistair Calder; Duangrurdee Wattanasirichaigoon; Krystyna Chrzanowska; Martina Simandlova; Lionel Van Maldergem; Philip Stanier; Philip L Beales; Jean E Vance; ...More
PUBLISHED: 2014, SOURCE: NATURE GENETICS, VOLUME: 46, ISSUE: 1
34
TITLE: Assessment of a Self-regulated Learning Intervention
AUTHORS: Gonzalez Pienda, JA; Fernandez, E; Bernardo, A; Nunez, JC; Rosario, P;
PUBLISHED: 2014, SOURCE: SPANISH JOURNAL OF PSYCHOLOGY, VOLUME: 17, ISSUE: 2
AUTHORS: Gonzalez Pienda, JA; Fernandez, E; Bernardo, A; Nunez, JC; Rosario, P;
PUBLISHED: 2014, SOURCE: SPANISH JOURNAL OF PSYCHOLOGY, VOLUME: 17, ISSUE: 2
INDEXED IN: 
Scopus 
WOS
Scopus WOS35
TITLE: Networks in Education: An Analysis of Selected Discourses Full Text
AUTHORS: Sousa, SB; Doroftei, AO; Araujo, HC;
PUBLISHED: 2014, SOURCE: Interchange, VOLUME: 44, ISSUE: 3
AUTHORS: Sousa, SB; Doroftei, AO; Araujo, HC;
PUBLISHED: 2014, SOURCE: Interchange, VOLUME: 44, ISSUE: 3
36
TITLE: Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
AUTHORS: Anna C Thomas; Hywel Williams; Nuria Seto Salvia; Chiara Bacchelli; Dagan Jenkins; Mary O'Sullivan; Konstantinos Mengrelis; Miho Ishida; Louise Ocaka; Estelle Chanudet; Chela James; Francesco Lescai; Glenn Anderson; Deborah Morrogh; Mina Ryten; Andrew J Duncan; Yun Jin Pai; Jorge M Saraiva; Fabiana Ramos; Bernadette Farren; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 95, ISSUE: 5
AUTHORS: Anna C Thomas; Hywel Williams; Nuria Seto Salvia; Chiara Bacchelli; Dagan Jenkins; Mary O'Sullivan; Konstantinos Mengrelis; Miho Ishida; Louise Ocaka; Estelle Chanudet; Chela James; Francesco Lescai; Glenn Anderson; Deborah Morrogh; Mina Ryten; Andrew J Duncan; Yun Jin Pai; Jorge M Saraiva; Fabiana Ramos; Bernadette Farren; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 95, ISSUE: 5
37
TITLE: Intellectual Disability, Unusual Facial Morphology and Hand Anomalies in Sibs Full Text
AUTHORS: Sergio B Sousa; Margarida Venancio; Estelle Chanudet; Rodger Palmer; Lina Ramos; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C Hennekam;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161, ISSUE: 10
AUTHORS: Sergio B Sousa; Margarida Venancio; Estelle Chanudet; Rodger Palmer; Lina Ramos; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C Hennekam;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161, ISSUE: 10
38
TITLE: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome Full Text
AUTHORS: Jeroen K J Van Houdt; Beata Anna Nowakowska; Sergio B Sousa; Barbera D C van Schaik; Eve Seuntjens; Nelson Avonce; Alejandro Sifrim; Omar A Abdul Rahman; Marie Jose H van den Boogaard; Armand Bottani; Marco Castori; Valerie Cormier Daire; Matthew A Deardorff; Isabel Filges; Alan Fryer; Jean Pierre Fryns; Simone Gana; Livia Garavelli; Gabriele Gillessen Kaesbach; Bryan D Hall; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 4
AUTHORS: Jeroen K J Van Houdt; Beata Anna Nowakowska; Sergio B Sousa; Barbera D C van Schaik; Eve Seuntjens; Nelson Avonce; Alejandro Sifrim; Omar A Abdul Rahman; Marie Jose H van den Boogaard; Armand Bottani; Marco Castori; Valerie Cormier Daire; Matthew A Deardorff; Isabel Filges; Alan Fryer; Jean Pierre Fryns; Simone Gana; Livia Garavelli; Gabriele Gillessen Kaesbach; Bryan D Hall; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 4
39
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
40
TITLE: Expanding the Skeletal Phenotype of Loeys-Dietz Syndrome Full Text
AUTHORS: Sergio B Sousa; Karen Lambot Juhan; Marlene Rio; Genevieve Baujat; Vicken Topouchian; Nadine Hanna; Martine Le Merrer; Francis Brunelle; Arnold Munnich; Catherine Boileau; Valerie Cormier Daire;
PUBLISHED: 2011, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 155A, ISSUE: 5
AUTHORS: Sergio B Sousa; Karen Lambot Juhan; Marlene Rio; Genevieve Baujat; Vicken Topouchian; Nadine Hanna; Martine Le Merrer; Francis Brunelle; Arnold Munnich; Catherine Boileau; Valerie Cormier Daire;
PUBLISHED: 2011, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 155A, ISSUE: 5
