ProfileOfResearchers

TITLE: Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family
AUTHORS: Filipa Marujo; Luis Carlos Costa; Regina Duarte; Maria Joao Brito; Ana Cordeiro; Conceicao Neves; Joao Farela Neves;
PUBLISHED: 2019, SOURCE: PEDIATRIC INFECTIOUS DISEASE JOURNAL, VOLUME: 38, ISSUE: 4

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Scopus

WOS

TITLE: Rituximab revisited: successful management of severe childhood atopic dermatitis
AUTHORS: Bruno Duarte; Ana Cordeiro; Maria Joao Paiva Lopes;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF DERMATOLOGY, VOLUME: 29, ISSUE: 1

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Scopus

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TITLE: Novel IL2RG Mutation Causes Leaky (TB+NK+)-B-LOW SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation
AUTHORS: Joao F Neves; Catarina Martins; Ana I Cordeiro; Conceicao Neves; Vicent Plagnol; James Curtis; Monique Fabre; Shahnaz Bibi; Luis M Borrego; Despina Moshous; Sergey Nejentsev; Kimberly Gilmour;
PUBLISHED: 2019, SOURCE: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, VOLUME: 41, ISSUE: 4

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WOS

TITLE: Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease
AUTHORS: Joao Farela Neves; Isabel Afonso; Luis Borrego; Catarina Martins; Ana Isabel Cordeiro; Conceicao Neves; Caroline Lacoste; Catherine Badens; Alexandre Fabre;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 61, ISSUE: 4

INDEXED IN:

WOS

INDEXED IN:

Scopus

WOS

TITLE: Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea Full Text
AUTHORS: Britt Sabina Petersen; Dietrich August; Renate Abt; Moudjahed Alddafari; Lida Atarod; Safa Baris; Hemant Bhavsar; Florian Brinkert; Mary Buchta; Alla Bulashevska; Ronnie Chee; Ana I Cordeiro; Naghi Dara; Gregor Duckers; Aisha Elmarsafy; Natalie Frede; Nermeen Galal; Patrick Gerner; Erik Oliver Glocker; Sigune Goldacker; Jutta Hammermann; Peter Hasselblatt; Zuzana Havlicekova; Katrin Hubscher; Milos Jesenak; Neslihan E Karaca; Elif Karakoc Aydiner; Mahboubeh M Kharaghani; Sara S Kilic; Ayca Kiykim; Christoph Klein; Christian Klemann; Robin Kobbe; Daniel Kotlarz; Martin W Laass; Ronan R Leahy; Mehrnaz Mesdaghi; Sally Mitton; Joao F Neves; Birol Ozturk; Luis F Pereira; Jan Rohr; Jessica L R Restrepo; Gunda Ruzaike; Nadia Saleh; Suranjith Seneviratne; Ebru Senol; Carsten Speckmann; Daniel Tegtmeyer; Paul Thankam; Jutte Van der Werff ten Bosch; Horst von Bernuth; Sebastian Zeissig; Yvonne Zeissig; Andre Franke; Bodo Grimbacher; ...More
PUBLISHED: 2017, SOURCE: INFLAMMATORY BOWEL DISEASES, VOLUME: 23, ISSUE: 12

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WOS