المؤلفون: Rita Quental, Diana Pinho, Natália Tkachenko, Diana Gonzaga, Maria do Céu Mota, Cristina Garrido, Carla Carmona, Sofia Quental, Ana Maria Fortuna, Célia Azevedo Soares

المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-4 (2024)

مصطلحات موضوعية: NF1, 16p13.11, Alu insertion, Coexisting disorders, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/cfb400650cd94a818d9ff88d77034158

المؤلفون: Jorge Diogo Da Silva, Ana Rita Soares, Ana Maria Fortuna, Nataliya Tkachenko

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100781- (2023)

مصطلحات موضوعية: CRMP1, Ellis-van Creveld, EVC, EVC2, Skeletal ciliopathy, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423007902; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/ab20495f31eb49149c71d2a2b6b396f8

المؤلفون: Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, Isabel Marques, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Arjan P. M. de Brouwer, Paula Jorge

المصدر: Clinical Case Reports, Vol 8, Iss 12, Pp 2476-2482 (2020)

مصطلحات موضوعية: homozygosity mapping, MYO7A, NEB, Nebulin‐associated myopathy, Usher syndrome, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/f75c94edd07a4f6a98db04deb6d7e5fe

المؤلفون: Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques, Ana Maria Fortuna, Dezso David

المصدر: Biomedicines, Vol 11, Iss 1, p 12 (2022)

مصطلحات موضوعية: Sifrim–Hitz–Weiss syndrome, CHD4-associated ND phenotype, frameshift CHD4 variant, familial translocation, GSG1L2, dup(2)(q14.3q21.1), Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/11/1/12; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/8bbe1e18206e44ee8ed510f6cbda8464

المؤلفون: Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros, Arminda Jorge, Felisbela Rocha, Cecília Martins, Sandra Mesquita, Susana Loureiro, Elisa Maria Cardoso, Maria José Cálix, Andreia Dias, Cristina Martins, Céu R. Mota, Diana Antunes, Juliette Dupont, Sara Figueiredo, Sónia Figueiroa, Susana Gama-de-Sousa, Sara Cruz, Adriana Sampaio, Paul Eijk, Marjan M. Weiss, Bauke Ylstra, Paula Rendeiro, Purificação Tavares, Margarida Reis-Lima, Jorge Pinto-Basto, Ana Maria Fortuna, Patrícia Maciel

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: CNVs, Neurodevelopment, Genotype-phenotype correlation, CUL4B overexpression, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1135-0; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/bb7b4f8ceb644b0184506045e0ebf972

المؤلفون: Jorge Diogo Da Silva, Diana Gonzaga, Ana Barreta, Hildeberto Correia, Ana Maria Fortuna, Ana Rita Soares, Nataliya Tkachenko

المصدر: Biomedicines, Vol 10, Iss 12, p 3078 (2022)

مصطلحات موضوعية: 17p13.3 microduplication, neurodevelopment disorder, intrafamilial variability, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/10/12/3078; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/a8e47c6dc5bd430584c8a61275965039

المؤلفون: Ana Rita Soares, Gabriela Soares, Manuela Mota-Freitas, Natália Oliva-Teles, Ana Maria Fortuna

المصدر: Acta Médica Portuguesa, Vol 32, Iss 7-8 (2019)

مصطلحات موضوعية: Intellectual Disability/genetics, Subtelomeric Rearrangements Gene Rearrangement/genetics, Telomere/genetics, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466; https://doaj.org/toc/0870-399X; https://doaj.org/toc/1646-0758

URL الوصول: https://doaj.org/article/724086fa16534922a3d9add6cb9ca66a

المؤلفون: Patricia Peñacoba (11951910), Maria Antònia Llauger (11951913), Ana María Fortuna (11951916), Xavier Flor (11951919), Gabriel Sampol (374099), Anna Maria Pedro-Pijoan (11951922), Núria Grau (11951925), Carme Santiveri (11951928), Joan Juvanteny (11951931), José Ignacio Aoiz (11951934), Joan Bayó (352605), Patricia Lloberes (374100), Mercè Mayos (1493401)

مصطلحات موضوعية: Medicine, Neuroscience, Biotechnology, Cancer, Science Policy, Mental Health, Hematology, Biological Sciences not elsewhere classified, Obstructive sleep apnea, Continuous positive airway pressure (CPAP), Primary healthcare, Sleep unit, Screening model, Home sleep apnea test

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_A_new_tool_to_screen_patients_with_severe_obstructive_sleep_apnea_in_the_primary_care_setting_a_prospective_multicenter_study/18482385

الاتاحة: https://doi.org/10.6084/m9.figshare.18482385.v1

المؤلفون: Patricia Peñacoba, Maria Antònia Llauger, Ana María Fortuna, Xavier Flor, Gabriel Sampol, Anna Maria Pedro-Pijoan, Núria Grau, Carme Santiveri, Joan Juvanteny, José Ignacio Aoiz, Joan Bayó, Patricia Lloberes, Mercè Mayos, the PASHOS Working Group

المصدر: BMC Pulmonary Medicine, Vol 22, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Obstructive sleep apnea, Continuous positive airway pressure (CPAP), Primary healthcare, Sleep unit, Screening model, Home sleep apnea test, Diseases of the respiratory system, RC705-779

Relation: https://doi.org/10.1186/s12890-022-01827-0; https://doaj.org/toc/1471-2466; https://doaj.org/article/6c519af13b9442fe8f70a57f83684ac6

الاتاحة: https://doi.org/10.1186/s12890-022-01827-0
https://doaj.org/article/6c519af13b9442fe8f70a57f83684ac6

المؤلفون: Célia Azevedo Soares, Manuela Ferreira Almeida, Gabriela Soares, Natália Tkachenko, Ana Maria Fortuna, Carla Carmona

المصدر: American Journal of Medical Genetics Part A. 191:1525-1529

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7f147a0a2b7c7a88c3c6a2b3917840d5
https://doi.org/10.1002/ajmg.a.63174

المؤلفون: Ângela Pereira, Nataliya Tkachenko, Ana Maria Fortuna, Isabel Alonso, Márcio Cardoso, Jorge Diogo Da Silva

المصدر: Neurological Sciences.

مصطلحات موضوعية: Psychiatry and Mental health, Neurology (clinical), Dermatology, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7572fefd8a5a50d94bed0a3428268135
https://doi.org/10.1007/s10072-023-06867-w

المؤلفون: Isabel Echavarria, N. Lobato, C. Lopez, Luis Ortega, M. Martin, Marta Arregui, Ana Maria Fortuna Gutierrez, M. de Toro, D. S. Juliao, I. Márquez-Rodas, Andrés Muñoz

المصدر: Clinical and Translational Oncology. 24:154-158

مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, education.field_of_study, business.industry, Incidence (epidemiology), Population, BRCA mutation, Cancer, General Medicine, medicine.disease, Thrombosis, Breast cancer, Internal medicine, Ambulatory, medicine, cardiovascular diseases, education, Ovarian cancer, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::abff3d6dad01256703eb3ee6e52f9a0d
https://doi.org/10.1007/s12094-021-02678-7

المؤلفون: Ana Maria Fortuna, Isaura Ribeiro, Gert Matthijs, Francisco Ferraz Laranjeira, Jaak Jaeken, Dulce Quelhas, Luísa Azevedo, Ana Medeira, Helena Cabral Fernandes, Ana C. Ferreira, Sílvia Sequeira, A.F. Oliveira, Paula Garcia, Carla Mendonça, Valerie Race, Liesbeth Keldermans, Anabela Bandeira, Elisa Leão Teles, Esmeralda Rodrigues, Erica Souche, Patrícia Janeiro, Ana Maria Minarelli Gaspar, Luísa Diogo, Esmeralda Martins

المصدر: The Journal of Pediatrics. 231:148-156

مصطلحات موضوعية: Male, Time Factors, Adolescent, HDE MTB, congenital disorder(s) of glycosylation, PMM2 genotype, Cohort Studies, Young Adult, 03 medical and health sciences, symbols.namesake, Congenital Disorders of Glycosylation, 0302 clinical medicine, 030225 pediatrics, PGM1, Humans, Medicine, 030212 general & internal medicine, Allele, Child, Exome sequencing, Genetics, Sanger sequencing, Massive parallel sequencing, Portugal, business.industry, Transferrin, Infant, DPAGT1, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Congenital disorder/glycosylation, symbols, Female, CDG, business, Phosphomannomutase

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef67a3c026723b5172eea4bf5b70bb75
https://doi.org/10.1016/j.jpeds.2020.12.026

المؤلفون: Nuno Maia, Sven Potelle, Hamide Yildirim, Sandrine Duvet, Shyam K. Akula, Celine Schulz, Elsa Wiame, Alexander Gheldof, Katherine O’Kane, Abbe Lai, Karen Sermon, Maïa Proisy, Philippe Loget, Tania Attié-Bitach, Chloé Quelin, Ana Maria Fortuna, Ana Rita Soares, Arjan P.M. de Brouwer, Emile Van Schaftingen, Marie-Cécile Nassogne, Christopher A. Walsh, Katrien Stouffs, Paula Jorge, Anna C. Jansen, François Foulquier

المساهمون: Public Health Sciences, Faculty of Medicine and Pharmacy, Neurogenetics, Clinical sciences, Medical Genetics, Basic (bio-) Medical Sciences, Reproduction and Genetics, Centre for Medical Genetics, Mental Health and Wellbeing research group, Neuroprotection & Neuromodulation, Universidade do Minho = University of Minho [Braga], Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Université de Lille, CNRS, Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576

المصدر: American Journal of Human Genetics, 109, 2, pp. 345-360
American Journal of Human Genetics, 109, 345-360
American Journal of Human Genetics
American Journal of Human Genetics, 2022, The American Journal of Human Genetics, 109, ⟨10.1016/j.ajhg.2021.12.010⟩

مصطلحات موضوعية: Male, Adolescent, Child, preschool, glycosylation, [SDV]Life Sciences [q-bio], Hamartoma, Hypothalamus, Oligosaccharides, Hamartoma/genetics, Brain Stem/metabolism, Congenital Disorders of Glycosylation, All institutes and research themes of the Radboud University Medical Center, Tongue, alpha-Mannosidase, Intellectual Disability, Cell Line, Tumor, Leukocytes, Genetics, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Humans, Central Nervous System Cysts/genetics, Central Nervous System Cysts, Child, Genetics (clinical), Alleles, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase/deficiency, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Oligosaccharides/metabolism, Congenital Disorders of Glycosylation/genetics, Hypothalamus/metabolism, alpha-Mannosidase/deficiency, Cerebellar Vermis/metabolism, Intellectual Disability/genetics, Mannose/metabolism, fetus, Polymicrogyria/genetics, Polymicrogyria, Leukocytes/metabolism, Female, Tongue/metabolism, Mannose, Brain Stem, Cerebellar Vermis

وصف الملف: application/pdf; application/octet-stream

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade79422f56e0a567e70b2ea5e783406
https://biblio.vub.ac.be/vubir/impaired-catabolism-of-free-oligosaccharides-due-to-man2c1-variants-causes-a-neurodevelopmental-disorder(96caf5ec-f9c4-429e-bb48-d636ee0ac948).html

المؤلفون: Maria Luís Cardoso, Mafalda Barbosa, Ana Maria Fortuna, Franklim Marques

المصدر: https://www.intechopen.com/books/775.

مصطلحات موضوعية: Prenatal Diagnosis - Morphology Scan and Invasive Methods

Relation: https://mts.intechopen.com/articles/show/title/current-issues-regarding-prenatal-diagnosis-of-inborn-errors-of-cholesterol-biosynthesis

الاتاحة: https://mts.intechopen.com/articles/show/title/current-issues-regarding-prenatal-diagnosis-of-inborn-errors-of-cholesterol-biosynthesis
https://doi.org/10.5772/27581

المؤلفون: Chi-Hang Lee, Luciano F. Drager, Anna Michela Gaeta, Ana Maria Fortuna-Gutierrez, Susana Vázquez, Francisco García-Río, Iván Benítez, Ferran Barbé, Jaime Corral-Peñafiel, Mayara Cabrini, Manuel Sánchez-de-la-Torre, Miguel Félez, Aye Thandar Aung, Juan F. Masa, Gerard Torres, Esther Sapiña-Beltrán, Jorge Abad, Paola Helena Ponte Márquez, Raquel Casitas, Mireia Dalmases

المصدر: Annals of the American Thoracic Society
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-IGTP: Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)

مصطلحات موضوعية: Male, Pulmonary and Respiratory Medicine, Blood pressure control, medicine.medical_specialty, Drug Resistance, Resistant hypertension, Blood Pressure, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Risk Factors, Internal medicine, Prevalence, medicine, Humans, In patient, Prospective Studies, 030212 general & internal medicine, obstructive sleep apnea, Antihypertensive Agents, Aged, Sleep Apnea, Obstructive, business.industry, resistant hypertension, blood pressure, Blood Pressure Monitoring, Ambulatory, Middle Aged, medicine.disease, nervous system diseases, respiratory tract diseases, Obstructive sleep apnea, Blood pressure, 030228 respiratory system, Hypertension, Cardiology, Female, Sleep, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::174d02f76667a1927b7111a670d72093
https://doi.org/10.1513/annalsats.201901-053oc

المؤلفون: Paula Jorge, Maria Manuela Mota-Freitas, Rosário Santos, Maria Luz Silva, Gabriela Soares, Ana Maria Fortuna

المصدر: Journal of Clinical Medicine, Vol 3, Iss 3, Pp 838-848 (2014)

مصطلحات موضوعية: chorionic villus sampling, prenatal diagnosis, prenatal referrals, maternal age, fetal loss, chromosomal abnormality/aneuploidy, maternal cell contamination, monogenic disorders, Medicine

Relation: http://www.mdpi.com/2077-0383/3/3/838; https://doaj.org/toc/2077-0383; https://doaj.org/article/bd5d883200774668a93c8ec9e852aa50

الاتاحة: https://doi.org/10.3390/jcm3030838
https://doaj.org/article/bd5d883200774668a93c8ec9e852aa50

المؤلفون: Paula Jorge, Maria Manuela Mota-freitas, Rosário Santos, Maria Luz Silva, Gabriela Soares, Ana Maria Fortuna

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.mdpi.com/2077-0383/3/3/838/jcm-03-00838.pdf.

مصطلحات موضوعية: J. Clin. Med. 2014, 3 839 Keywords, chorionic villus sampling, prenatal diagnosis, prenatal referrals, maternal age, fetal loss, chromosomal abnormality/aneuploidy, maternal cell con

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.646.5324; http://www.mdpi.com/2077-0383/3/3/838/jcm-03-00838.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.646.5324
http://www.mdpi.com/2077-0383/3/3/838/jcm-03-00838.pdf

المؤلفون: Vicente Plaza, David Ramos-Barbón, Ana María Muñoz, Ana María Fortuna, Astrid Crespo, Cristina Murio, Rosa Palomino, EOLO Study Investigators

المصدر: PLoS ONE, Vol 8, Iss 10, p e77085 (2013)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC3808365?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/760c1b2a56454124a66f18bec0fc905c

الاتاحة: https://doi.org/10.1371/journal.pone.0077085
https://doaj.org/article/760c1b2a56454124a66f18bec0fc905c

المؤلفون: Ronald Lee Chi-Hang, Manuel Sánchez-de-la-Torre, Esther Sapiña-Beltrán, Miquel Felez, Ferran Barbé, Maria Franch, Carmen Bravo, Francisco García-Río, Ana Maria Fortuna-Gutierrez, Gerard Torres, Jorge Abad, Juan F. Masa, Montserrat Martínez-Alonso, Luciano F. Drager, Miguel Ángel Martínez-García, Mireia Dalmases

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
ARCHIVOS DE BRONCONEUMOLOGIA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Ambulatory blood pressure, Time Factors, medicine.medical_treatment, Continuous positive airway pressure, Resistant hypertension, Coronary Vasospasm, SISTEMA CARDIOVASCULAR, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, Humans, Sleep study, Prospective Studies, Sleep Apnea, Obstructive, business.industry, Sleep apnea, General Medicine, medicine.disease, respiratory tract diseases, Obstructive sleep apnea, Blood pressure, Treatment Outcome, 030228 respiratory system, Cardiovascular Diseases, Hypertension, Ambulatory blood pressure monitoring, business, Cardiovascular outcomes, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::523a1d52055dbd8a830330a26af73658
https://doi.org/10.1016/j.arbr.2018.03.003