부산대학교 도서관

Illescas, Tamara ; Mansilla, Elena ; Herrero, Beatriz ; Rodríguez, Roberto ; López, Francisco ; Aza-Carmona, Miriam ; Regojo, Rita María ; Santos-Simarro, Fernando ; Heath, Karen E ; Bartha, José Luis ; Antolín, Eugenia

In European Journal of Obstetrics & Gynecology and Reproductive Biology July 2020 250:209-215

Díaz-González, Francisca; Sentchordi-Montané, Lucía; Lucas-Castro, Elsa; Modamio-Høybjør, Silvia; Heath, Karen E

European Journal of Endocrinology. Jul2024, Vol. 191 Issue 1, p38-46. 9p.

Dauber A; Division of Endocrinology, Children's National Hospital, Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC 20010, United States.; Jorge AAL; Genetic Endocrinology Unit (LIM25), Endocrinology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo 01246-903, Brazil.; Nilsson O; Division of Pediatric Endocrinology (ERN BOND, ENDO ERN) and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, SE-17177 Stockholm, Sweden.; Dekkers OM; Department of Clinical Epidemiology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.; Department of Endocrinology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.; Department of Clinical Epidemiology, Aarhus University and Aarhus University Hospital, 8200 Aarhus, Denmark.; Argente J; Departments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, La Princesa Research Institute, Department of Pediatrics, Universidad Autónoma de Madrid, 28006 Madrid, Spain.; Centro de Investigación Biomédica en Red Fisiología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III. IMDEA Food Institute, 28006 Madrid, Spain.; Netchine I; Sorbonne Université, INSERM, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris 75012, France.; Backeljauw P; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, United States.; Baron J; National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.; Bertola DR; Medical Genetics Unit, Pediatrics Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo 05403-000, Brazil.; Clayton P; Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, M13 9PL, United Kingdom.; Davies JH; Regional Centre for Paediatric Endocrinology, Southampton Children's Hospital; Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, United Kingdom.; Edouard T; Endocrine, Bone Diseases and Genetics Unit, Reference Centre for Rare Diseases of Calcium and Phosphate Metabolism (OSCAR Network, ERN BOND) and Reference Centre for Rare Diseases of Growth (FIRENDO Network, Endo-ERN), Children's Hospital, Toulouse University Hospital, 31300 Toulouse, France.; Eggermann T; Center for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, 52074 Aachen, Germany.; Gevers EF; Centre for Endocrinology, William Harvey Research Institute, Faculty of Medicine, Barts and the London School for Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, United Kingdom.; Department of Paediatric Endocrinology, Royal London Children's Hospital, Barts Health NHS Trust, London E1 1BB, United Kingdom.; Grigelioniene G; Department of Clinical Genetics and Genomics, Karolinska University Hospital, SE-17176 Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, SE-17176 Stockholm, Sweden.; Heath KE; Institute of Medical & Molecular (INGEMM) and Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, IdiPAZ, 28046 Madrid, Spain.; CIBERER-Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain.; Jee YH; Division of Endocrinology, Children's National Hospital, Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC 20010, United States.; Division of Endocrinology and Center for Precision Medicine and Genomics Research (PMGR), Children's Hospital, Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, United States.; Lapunzina P; CIBERER-Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, 28046 Madrid, Spain.; ITHACA- European Reference Network for Rare Diseases, 28007 Madrid, Spain.; Department of Genetics, School of Medicine, UCJC University, 28692 Madrid, Spain.; Mortier GR; Center for Human Genetics, University Hospitals Leuven and KU Leuven, B-3000 Leuven, Belgium.; Pruhova S; Department of Pediatrics, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, V Uvalu 84, Prague 5 150 06, Czech Republic.; Storr HL; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University, London EC1M 6BQ, United Kingdom.; Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom.; Ferreira CR; Unit on Skeletal Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1103, United States.; Hasegawa T; Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan.; Hokken-Koelega ACS; Department of Pediatrics, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands.; Linglart A; Department of Endocrinology and Diabetes for Children, Paris Saclay University, AP-HP, INSERM, Bicêtre Paris Saclay Hospital, 94270 Le Kremlin Bicêtre, France.; Luo X; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.; Wang X; Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai 200127, China.; Hwa V; Premium Research Institute for Human Metaverse Medicine (WPI-PRIMe), The University of Osaka, Suita, Osaka 565-0871, Japan.; Gregory LC; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom.; Buonocore F; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom.; Dattani MT; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom.; Great Ormond Street Hospital for Children, London WC1N 3JH, United Kingdom.; Cianfarani S; Department of Systems Medicine, University of Rome 'Tor Vergata', 00133 Rome, Italy.; Endocrinology and Diabetes Unit, 'Bambino Gesù' Children's Hospital IRCCS, 00165 Rome, Italy.; Department of Women's and Children's Health, Karolinska Institutet, SE-17177 Stockholm, Sweden.; Wit JM; Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

Palomares-Bralo, María ; Vallespín, Elena ; del Pozo, Ángela ; Ibañez, Kristina ; Silla, Juan Carlos ; Galán, Enrique ; Gordo, Gema ; Martínez-Glez, Víctor ; Alba-Valdivia, Lázaro I ; Heath, Karen E ; García-Miñaúr, Sixto ; Lapunzina, Pablo ; Santos-Simarro, Fernando

In Genetics in Medicine November 2017 19(11):1283-1285

Oliveira D; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal. Electronic address: danielaoliveira@ulscoimbra.min-saude.pt.; Almeida PM; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Franco S; Obstetrics Department, Maternidade Daniel de Matos, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Pina R; Surgical Pathology Department, Hospital da Universidade de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Cerqueira R; Unilabs Genetics, Porto, Portugal.; Modamio-Hoybjor S; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.; Heath KE; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain; CIBERER, ISCIII, Madrid, Spain.; Sousa SB; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal. Electronic address: sbsousa@ulscoimbra.min-saude.pt.; Ramos F; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal; Prenatal Diagnosis Centre, Maternidade Bissaya Barreto, Unidade Local de Saúde de Coimbra, Coimbra, Portugal. Electronic address: fabiana.ramos@ulscoimbra.min-saude.pt.

Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE

Lucas-Castro E; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Reference Network on Rare BONe Disorders (ERN-BOND).; Escuela de Doctorado, Universidad Autónoma de Madrid, Madrid, Spain.; Diaz-González F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Reference Network on Rare BONe Disorders (ERN-BOND).; Modamio-Høybjor S; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Reference Network on Rare BONe Disorders (ERN-BOND).; Parrón-Pajares M; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Reference Network on Rare BONe Disorders (ERN-BOND).; Department of Radiology, Hospital Universitario La Paz, Madrid, Spain.; Pajares S; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic de Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Gort L; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic de Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Nevado J; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA. European Research Network.; Lapunzina P; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA. European Research Network.; Leiva-Gea A; UGC Cirugía Ortopédica y Traumatología, Hospital Universitario Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA)-Plataforma Bionand, Málaga, Spain.; Heath KE; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Reference Network on Rare BONe Disorders (ERN-BOND).; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Gallego-Zazo N; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, Paris, France.; Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, Paris, France.; Parra A; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, Paris, France.; Nevado J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, Paris, France.; Cazalla M; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, Paris, France.; Lucas-Castro E; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; Heath KE; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; Palomares M; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, Paris, France.; Soengas E; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Lledín MD; Department of Pediatric Hepatology and Liver Transplant, Hospital Universitario La Paz, Madrid, Spain.; Larrea E; Department of Gastrology and Hepatology, Hospital Universitario La Paz, Madrid, Spain.; Olveira A; Department of Gastrology and Hepatology, Hospital Universitario La Paz, Madrid, Spain.; Morte B; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Carracedo Á; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Department of Genetics, Fundación de Medicina Xenómica, Santiago de Compostela, Spain.; Fundación Pública Galega de Medicina Xenómica (SERGAS), IDIS, Santiago de Compostela, Spain.; Grupo de Medicina Genómica, CIMUS, Universidad de Santiago de Compostela, Santiago de Compostela, Spain.; Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, Paris, France.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Heath, Karen E ; Gudnason, Vilmundur ; Humphries, Steve E ; Seed, Mary

In Atherosclerosis 1999 143(1):41-54

Paumard-Hernández, Beatriz; Berges-Soria, Julia; Barroso, Eva; Rivera-Pedroza, Carlos I; Pérez-Carrizosa, Virginia; Benito-Sanz, Sara; López-Messa, Eva; Santos, Fernando; García-Recuero, Ignacio I; Romance, Ana; Ballesta-Martínez, Juliana María; López-González, Vanesa; Campos-Barros, Ángel; Cruz, Jaime; Guillén-Navarro, Encarna; Sánchez del Pozo, Jaime; Lapunzina, Pablo; García-Miñaur, Sixto; Heath, Karen E

European Journal of Human Genetics. Jul2015, Vol. 23 Issue 7, p907-914. 8p.

Travessa AM; Department of Medical Genetics and ERN-BOND, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.; Medical Genetics Consultation, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal.; Romeu JC; Department of Rheumathology and Metabolic Bone Disorders and ERN-BOND, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Mirco T; Department of Physical Medicine & Rehabilitation and ERN-BOND, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Vaz-de-Macedo C; Department of Obstetrics, Hospital Garcia de Orta, Almada, Portugal.; Palma MJ; Department of Obstetrics, Hospital Garcia de Orta, Almada, Portugal.; Modamio-Høybjør S; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario la Paz, Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario la Paz, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.; CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), ISCIII, Madrid, Spain.; Barreiros C; Associação Portuguesa de Osteogénese Imperfeita (APOI), Lisbon, Portugal.; Cardiology Department and ERN-BOND, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Cardiovascular Centre of the University of Lisbon (CCUL@RISE), Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.; Magalhães A; Cardiology Department and ERN-BOND, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Cardiovascular Centre of the University of Lisbon (CCUL@RISE), Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.; Barão RC; Department of Ophthalmology, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Heath KE; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario la Paz, Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario la Paz, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.; CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), ISCIII, Madrid, Spain.; Sousa AB; Department of Medical Genetics and ERN-BOND, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol

Sentchordi-Montané L; Department of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain.; Department of Public Maternal and Child Health Department, Faculty of Medicine, Universidad Complutense de Madrid, Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, UAM, Hospital Universitario la Paz, Madrid, Spain.; Díaz-Gonzalez F; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, UAM, Hospital Universitario la Paz, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; Modamio-Høybjør S; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, UAM, Hospital Universitario la Paz, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; Nevado J; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, UAM, Hospital Universitario la Paz, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.; Machado-Fernandes F; Instituto Português de Oncologia do Porto, Porto, Portugal.; Carcavilla A; Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; Department of Pediatric Endocrinology, Hospital Universitario La Paz, Madrid, Spain.; Salcedo M; Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; Department of Pediatric Orthopedics & Traumatology, Hospital Universitario La Paz, Madrid, Spain.; Saraiva J; Unit of Medical Genetics (ERN-BOND), Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.; Kant SG; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; de Bruin C; Laboratory for Diagnostic Genome analysis (LDGA), Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; van Duyvenvoorde HA; Laboratory for Diagnostic Genome analysis (LDGA), Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; González-Cabaleiro I; Department of Pediatrics, Hospital Alvaro Cunqueiro, Vigo, Spain.; Rey-Cordo L; Department of Pediatrics, Complejo Hospitalario Universitario de Vigo, Vigo, Spain.; Chamorro-Martín JL; Department of Pediatrics, Complejo Hospitalario Universitario de Vigo, Vigo, Spain.; Cancela-Muñiz V; Department of Pediatrics, Hospital Universitario de Donosti, San Sebastián, Spain.; Alcón-Sáez JJ; Department of Pediatrics, Consorcio Hospital General Universitario de Valencia, Valencia, Spain.; Department of Pediatrics, Obstetrics and Gynecology, Faculty of Medicine, Universitat de Valencia, Valencia, Spain.; Parrón-Pajares M; Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; Department of Pediatric Radiology, Hospital Universitario La Paz, Madrid, Spain.; Sousa SB; Unit of Medical Genetics (ERN-BOND), Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.; Heath KE; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, UAM, Hospital Universitario la Paz, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.

Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2265 (Electronic) Linking ISSN: 03000664 NLM ISO Abbreviation: Clin Endocrinol (Oxf) Subsets: MEDLINE

Albuisson, Juliette; Schmitt, Sébastien; Baron, Sabine; Bézieau, Stéphane; Benito-Sanz, Sara; Heath, Karen E

European Journal of Human Genetics. Aug2012, Vol. 20 Issue 8, pe1-e4. 4p.

Barca-Tierno, Verónica; Aza-Carmona, Miriam; Barroso, Eva; Heine-Suner, Damia; Azmanov, Dimitar; Rosell, Jordi; Ezquieta, Begoña; Montané, Lucia Sentchordi; Vendrell, Teresa; Cruz, Jaime; Santos, Fernando; Rodríguez, José Ignacio; Pozo, Jesús; Argente, Jesús; Kalaydjieva, Luba; Gracía, Ricardo; Campos-Barros, Ángel; Benito-Sanz, Sara; Heath, Karen E

European Journal of Human Genetics. Dec2011, Vol. 19 Issue 12, p1218-1225. 8p. 2 Color Photographs, 1 Diagram, 2 Charts.

Heath, Karen E; Humphries, Steve E; Middleton-Price, Helen; Boxer, Maureen

European Journal of Human Genetics. Apr2001, Vol. 9 Issue 4, p244. 9p.

Ramos-Mejía R; Growth and Development Department, Hospital Garrahan, Buenos Aires, Argentina.; Heath KE; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UAM, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND), Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.; Modamio-Høybjør S; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UAM, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND), Madrid, Spain.; Huckstadt V; Genetics Department, Hospital Garrahan, Buenos Aires, Argentina.; Calcagni J; Spinal Pathology Department, Hospital Garrahan, Buenos Aires, Argentina.; Remondino R; Spinal Pathology Department, Hospital Garrahan, Buenos Aires, Argentina.; Fano V; Growth and Development Department, Hospital Garrahan, Buenos Aires, Argentina.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Davis, Erica E; Balasubramanian, Ravikumar; Kupchinsky, Zachary A; Keefe, David L; Plummer, Lacey; Khan, Kamal; Meczekalski, Blazej; Heath, Karen E; Lopez-Gonzalez, Vanesa; Ballesta-Martinez, Mary J; Margabanthu, Gomathi; Price, Susan; Greening, James; Brauner, Raja; Valenzuela, Irene; Cusco, Ivon; Fernandez-Alvarez, Paula; Wierman, Margaret E; Li, Taibo; Lage, Kasper

Human Molecular Genetics; 7/15/2020, Vol. 29 Issue 14, p2435-2450, 16p

Del Pino M; Growth and Development, Hospital Garrahan, Buenos Aires, Argentina.; Huckstadt V; Genetics Department, Hospital Garrahan, Buenos Aires, Argentina.; Diaz-Gonzalez F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, UAM, IdiPAZ, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, UAM, Madrid, Spain.; Obregon MG; Genetics Department, Hospital Garrahan, Buenos Aires, Argentina.; Heath KE; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, UAM, IdiPAZ, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.; Fano V; Growth and Development, Hospital Garrahan, Buenos Aires, Argentina.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Díaz-González F; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; Parrón-Pajares M; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; Department of Radiology, Hospital Universitario La Paz, Madrid, Spain.; Lucas-Castro E; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; Modamio-Høybjør S; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; Sentchordi-Montané L; Department of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain.; Department of Pediatrics, Universidad Complutense, Madrid, Spain.; Seidel V; Clinical Genetics Section, Department of Pediatrics, Hospital Universitario Gregorio Marañón, Madrid, Spain.; Prieto P; Department of Pediatrics, Hospital Universitario Clínico Salamanca and Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain.; Tarraso-Urios G; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Codina-Sola M; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Cueto-González AM; European Research Network on Rare BONe Disorders (ERN-BOND).; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Ballesta-Martínez MJ; European Research Network on Rare BONe Disorders (ERN-BOND).; Medical Genetics Section, Department of Pediatrics, Hospital Universitario Virgen de la Arrixaca, IMIB, Murcia, Spain.; CIBERER, ISCIII, Madrid, Spain.; Santos-Simarro F; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; CIBERER, ISCIII, Madrid, Spain.; Department of Molecular diagnostics & Clinical Genetics, Hospital Universitario Son Espases, Palma, Mallorca, Spain.; Sousa SB; European Research Network on Rare BONe Disorders (ERN-BOND).; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar & Universitário de Coimbra, Coimbra, Portugal.; Heath KE; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; CIBERER, ISCIII, Madrid, Spain.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Suter, Aude-Annick; Santos-Simarro, Fernando; Toerring, Pernille Mathiesen; Abad Perez, Angela; Ramos-Mejia, Rosario; Heath, Karen E; Huckstadt, Victoria; Parrón-Pajares, Manuel; Mensah, Martin Atta; Hülsemann, Wiebke; Holtgrewe, Manuel; Mundlos, Stefan; Kornak, Uwe; Bartsch, Oliver; Ehmke, Nadja

Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Medical Genetics Part A
Suter, A A, Santos-Simarro, F, Toerring, P M, Abad Perez, A, Ramos-Mejia, R, Heath, K E, Huckstadt, V, Parrón-Pajares, M, Mensah, M A, Hülsemann, W, Holtgrewe, M, Mundlos, S, Kornak, U, Bartsch, O & Ehmke, N 2020, ' Variable pulmonary manifestations in Chitayat syndrome : Six additional affected individuals ', American Journal of Medical Genetics, Part A, vol. 182, no. 9, pp. 2068-2076 . https://doi.org/10.1002/ajmg.a.61735

Benito-Sanz, Sara; Aza-Carmona, Miriam; Rodríguez-Estevez, Amaya; Rica-Etxebarria, Ixaso; Gracia, Ricardo; Campos-Barros, Ángel; Heath, Karen E

European Journal of Human Genetics. Jan2012, Vol. 20 Issue 1, p125-127. 3p. 1 Diagram, 1 Graph.