Jorge Manuel Tavares Lopes de Andrade Saraiva
AuthID: R-000-KA9
21
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
22
TITLE: Regarding the Article "Adults with Down Syndrome: Characterization of a Portuguese Sample" Full Text
AUTHORS: Jorge M Saraiva;
PUBLISHED: 2014, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 27, ISSUE: 3
AUTHORS: Jorge M Saraiva;
PUBLISHED: 2014, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 27, ISSUE: 3
INDEXED IN: 
WOS
WOS23
TITLE: Children and Adolescent Perfectionism Scale: Validation in a Portuguese Adolescent Sample Full Text
AUTHORS: Carmen Bento; Ana Telma Pereira; Jorge Manuel Saraiva; Antonio Macedo;
PUBLISHED: 2014, SOURCE: PSICOLOGIA-REFLEXAO E CRITICA, VOLUME: 27, ISSUE: 2
AUTHORS: Carmen Bento; Ana Telma Pereira; Jorge Manuel Saraiva; Antonio Macedo;
PUBLISHED: 2014, SOURCE: PSICOLOGIA-REFLEXAO E CRITICA, VOLUME: 27, ISSUE: 2
24
TITLE: Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update
AUTHORS: Ana Beleza Meireles; Jill Clayton Smith; Jorge M Saraiva; May Tassabehji;
PUBLISHED: 2014, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 51, ISSUE: 10
AUTHORS: Ana Beleza Meireles; Jill Clayton Smith; Jorge M Saraiva; May Tassabehji;
PUBLISHED: 2014, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 51, ISSUE: 10
INDEXED IN: 
Scopus WOS
Scopus WOS25
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
26
TITLE: Regarding the article "Adults with down syndrome: Characterization of a Portuguese sample" [A propósito do artigo "Adults with down syndrome: Characterization of a Portuguese sample"]
AUTHORS: Saraiva, JM;
PUBLISHED: 2014, SOURCE: Acta Medica Portuguesa, VOLUME: 27, ISSUE: 3
AUTHORS: Saraiva, JM;
PUBLISHED: 2014, SOURCE: Acta Medica Portuguesa, VOLUME: 27, ISSUE: 3
INDEXED IN: Scopus
Scopus27
TITLE: Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism Full Text
AUTHORS: Ana Beleza Meireles; Eunice Matoso; Lina Ramos; Joana B Melo ; Isabel M Carreira ; Eduardo D Silva ; Jorge M Saraiva;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161A, ISSUE: 3
AUTHORS: Ana Beleza Meireles; Eunice Matoso; Lina Ramos; Joana B Melo ; Isabel M Carreira ; Eduardo D Silva ; Jorge M Saraiva;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161A, ISSUE: 3
28
TITLE: Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach Full Text
AUTHORS: Patricia Horta Oliveira; Catarina Cunha; Susana Almeida; Ricardo Ferreira; Sofia Maia; Jorge Manuel Saraiva; Maria Francelina Lopes;
PUBLISHED: 2013, SOURCE: JOURNAL OF PEDIATRIC SURGERY, VOLUME: 48, ISSUE: 1
AUTHORS: Patricia Horta Oliveira; Catarina Cunha; Susana Almeida; Ricardo Ferreira; Sofia Maia; Jorge Manuel Saraiva; Maria Francelina Lopes;
PUBLISHED: 2013, SOURCE: JOURNAL OF PEDIATRIC SURGERY, VOLUME: 48, ISSUE: 1
29
TITLE: Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents' Beliefs About the Cause of Their Children's Deafness Full Text
AUTHORS: Fidjy Rodrigues; Milena Paneque ; Claudia Reis; Margarida Venancio; Jorge Sequeiros ; Jorge Saraiva;
PUBLISHED: 2013, SOURCE: JOURNAL OF GENETIC COUNSELING, VOLUME: 22, ISSUE: 4
AUTHORS: Fidjy Rodrigues; Milena Paneque ; Claudia Reis; Margarida Venancio; Jorge Sequeiros ; Jorge Saraiva;
PUBLISHED: 2013, SOURCE: JOURNAL OF GENETIC COUNSELING, VOLUME: 22, ISSUE: 4
30
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
