المؤلفون: Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

المساهمون: Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, , Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

مصطلحات موضوعية: Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29300384; info:eu-repo/semantics/altIdentifier/wos/WOS:000445531800009; volume:20; issue:9; firstpage:965; lastpage:975; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11585/645446Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85050603332; https://www.nature.com/articles/gim2017221Test

الإتاحة: https://doi.org/10.1038/gim.2017.221Test
http://hdl.handle.net/11585/645446Test
https://www.nature.com/articles/gim2017221Test

المؤلفون: Gareth Baynam, Asma Rehman, Ariana Kariminejad, Laura Lagostena, Maria Antonietta Pisanti, Fiorella Gurrieri, Mario Abinun, Robert Chiesa, Christine P Burren, Alessandra Picollo, Anna Villa, Shanti Balasubramanian, Dario Strina, Eleonora Di Zanni, Eleonora Palagano, Cristina Sobacchi, Ilaria De Maggio, Lien De Somer, Justin C. Brown, Miguel R. Abboud, Baldassarre Martire

مصطلحات موضوعية: Functional analysis, Mutant, Neurodegeneration, medicine, Osteopetrosis, Biology, medicine.disease, Cell biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a031a38d81ab16c814f784c2872384fcTest
https://doi.org/10.1002/jbmr.4200/v4/response1Test

المؤلفون: Shanti Balasubramanian, Miguel R. Abboud, Cristina Sobacchi, Maria Antonietta Pisanti, Baldassarre Martire, Robert Chiesa, Laura Lagostena, Fiorella Gurrieri, Ariana Kariminejad, Dario Strina, Gareth Baynam, Eleonora Di Zanni, Asma Rehman, Alessandra Picollo, Christine P Burren, Lien De Somer, Eleonora Palagano, Ilaria De Maggio, Justin C. Brown, Anna Villa, Mario Abinun

المصدر: Journal of bone and mineral research 36 (2020): 535–541. doi:10.1002/jbmr.4200
info:cnr-pdr/source/autori:Eleonora Di Zanni 1, Eleonora Palagano 2 3, Laura Lagostena 1, Dario Strina 2 3, Asma Rehman 4, Mario Abinun 5 6, Lien De Somer 7, Baldassarre Martire 8, Justin Brown 9 10, Ariana Kariminejad 11, Shanti Balasubramanian 12, Gareth Baynam 13 14 15 16, Fiorella Gurrieri 17, Maria A Pisanti 18, Ilaria De Maggio 18, Miguel R Abboud 19, Robert Chiesa 20, Christine P Burren 21 22, Anna Villa 2 23, Cristina Sobacchi 2 3, Alessandra Picollo 1/titolo:Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural and Functional Analysis of 14 ClC-7 Mutants/doi:10.1002%2Fjbmr.4200/rivista:Journal of bone and mineral research/anno:2020/pagina_da:535/pagina_a:541/intervallo_pagine:535–541/volume:36
Di Zanni, E, Palagano, E, Lagostena, L, Strina, D, Rehman, A, Abinun, M, De Somer, L, Martire, B, Brown, J, Kariminejad, A, Balasubramanian, S, Baynam, G, Gurrieri, F, Pisanti, M A, De Maggio, I, Abboud, M R, Chiesa, R, Burren, C P, Villa, A, Sobacchi, C & Picollo, A 2020, ' Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural and Functional Analysis of 14 ClC-7 Mutants ', Journal of Bone and Mineral Research . https://doi.org/10.1002/jbmr.4200Test

مصطلحات موضوعية: 0301 basic medicine, Protein family, Endocrinology, Diabetes and Metabolism, Osteoclasts, 030209 endocrinology & metabolism, medicine.disease_cause, 03 medical and health sciences, Mice, missense mutations, 0302 clinical medicine, Osteoclast, Chloride Channels, medicine, Lysosomal storage disease, Animals, Humans, Orthopedics and Sports Medicine, Bone Resorption, Cellular localization, Mutation, biology, urogenital system, Neurodegeneration, Osteopetrosis, chloride-proton exchanger, medicine.disease, Cell biology, 030104 developmental biology, medicine.anatomical_structure, lysosomal localization, osteoclast, biology.protein, osteopetrosis, CLC-7, CLCN7, Lysosomes

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b137296a52c0cb5371623fdd31814b90Test

المؤلفون: Inge B. Mathijssen, Claire G. Salter, J M van Hagen, Tara Montgomery, Manuela Priolo, T. E. Neumann, Charles Shaw-Smith, I. H. Acero, Raoul C.M. Hennekam, L. Pintomalli, Fernando Santos-Simarro, Christine Coubes, Maria Iascone, Leonie A. Menke, Nursel Elcioglu, M. Zollino, Ghayda M. Mirzaa, Shane McKee, Rajesh V. Thakker, S. Piening, I. Dapia, C. Mammì, Arveen Kamath, Jair Tenorio, Emilia K. Bijlsma, Pierre Sarda, W. W. Dunn, Denny Schanze, Paul A. Mulder, Pablo Lapunzina, Martin Zenker, A. van Haeringen, Laura Bernardini, Jan Liebelt, N. Di Donato, Dorothee Neubauer, Jill A. Fahrner, Alison Foster, Sally Ann Lynch, Sue Price, A. M. Landlust, Sally J. Davies, N. G. González, I. Huber, Rita Valdez, I. D. C. van Balkom, Maria Antonietta Pisanti, Saskia M. Maas, Sarah F. Smithson, Pedro Arias, Mohnish Suri, Mabel Segovia, Kreepa Kooblall, Katrina Tatton-Brown, Trevor Cole, A. S. Plomp, Ann Sophie Kaiser, Fowzan S. Alkuraya

المساهمون: Pediatric surgery, Human genetics, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C., Graduate School, ANS - Cellular & Molecular Mechanisms, General Paediatrics, ARD - Amsterdam Reproduction and Development, Human Genetics

المصدر: J Intellect Disabil Res
Mulder, P A, van Balkom, I D C, Landlust, A M, Priolo, M, Menke, L A, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Kooblall, K, Lapunzina, P, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Schanze, D, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Tatton-Brown, K, Tenorio, J, Thakker, R V, Valdez, R M, van Haeringen, A, van Hagen, J M, Zenker, M, Zollino, M, Dunn, W W, Piening, S & Hennekam, R C 2020, ' Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes ', Journal of Intellectual Disability Research, vol. 64, no. 12, pp. 956-969 . https://doi.org/10.1111/jir.12787Test
Journal of Intellectual Disability Research, 64(12), 956-969. Wiley-Blackwell
Journal of Intellectual Disability Research, 64(12), 956-969. WILEY
Journal of intellectual disability research, 64(12), 956-969. Wiley-Blackwell

مصطلحات موضوعية: cognition, Male, 030506 rehabilitation, Marshall–Smith syndrome, medicine.medical_treatment, CHILDREN, Comorbidity, Settore MED/03 - GENETICA MEDICA, Craniofacial Abnormalities, Quality of life, Septo-Optic Dysplasia, Intellectual disability, Adaptation, Psychological, sensory processing, Child, Netherlands, biology, Mental Disorders, 05 social sciences, Rehabilitation, Cognition, SOTOS-LIKE, Syndrome, NFIX, Psychiatry and Mental health, Phenotype, Neurology, adaptive behaviour, Child, Preschool, NFIX variants, Female, 0305 other medical science, Psychology, 050104 developmental & child psychology, Clinical psychology, Adult, Sensory processing, Adolescent, Challenging behaviour, NFIXvariants, Context (language use), AUTISTIC DISORDER, Speech Disorders, Article, 03 medical and health sciences, Young Adult, Arts and Humanities (miscellaneous), Intellectual Disability, medicine, Humans, 0501 psychology and cognitive sciences, Abnormalities, Multiple, Malan syndrome, Bone Diseases, Developmental, ADULTS, medicine.disease, Marshall-Smith syndrome, Cross-Sectional Studies, biology.protein, PATTERNS, Neurology (clinical), Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de6be3c9250c5a8b430e944ce44d898Test
https://pubmed.ncbi.nlm.nih.gov/33034087Test

المؤلفون: Ann Sophie Kaiser, Fowzan S. Alkuraya, Trevor Cole, Paul A. Mulder, Pablo Lapunzina, Inge B. Mathijssen, Jan Liebelt, Claire G. Salter, Pierre Sarda, Jill A. Fahrner, Manuela Priolo, Dorothee Neubauer, Nursel Elcioglu, Denny Schanze, Katrin Tatton-Brown, Sarah F. Smithson, Jair Tenorio, Thomas E. Neumann, Charles Shaw-Smith, Letizia Pintomalli, Shane McKee, Emilia K. Bijlsma, Sally J. Davies, Sue Price, Rajesh V. Thakker, Noelia García González, Rita Valdez, Sally Ann Lynch, Nataliya Di Donato, Arie van Haeringen, Astrid S. Plomp, Inés Hernández Acero, Ilka Huber, Marcela Zollino, Laura Bernardini, Raoul C.M. Hennekam, Martin Zenker, Mohnish Suri, Mabel Segovia, Johanna M. van Hagen, Ghayda Mirzaa, Leonie A. Menke, Kreepa Kooblall, Arveen Kamath, Christine Coubes, I. Dapia, Corrado Mammì, Alison Foster, Tara Montgomery, Pedro Arias, Fernando Santos-Simarro, Maria Iascone, Maria Antonietta Pisanti, Saskia M. Maas

المساهمون: ANS - Cellular & Molecular Mechanisms, Graduate School, ARD - Amsterdam Reproduction and Development, Human Genetics, Paediatric Genetics, General Paediatrics, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Human genetics, Pediatric surgery

المصدر: Human Mutation
Human mutation, 39(9), 1226-1237. Wiley-Liss Inc.
Human Mutation, 39(9), 1226-1237
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, Van Haeringen, A, Van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, ' Further delineation of Malan syndrome ', Human Mutation, vol. 39, no. 9, pp. 1226-1237 . https://doi.org/10.1002/humu.23563Test
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, van Haeringen, A, van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, ' Further delineation of Malan syndrome ', Human Mutation, vol. 39, no. 9, pp. 1226-1237 . https://doi.org/10.1002/humu.23563Test
Human Mutation, 39(9), 1226-1237. Wiley-Liss Inc.

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Developmental Disabilities, phenotype-genotype, Craniofacial Abnormalities, Epilepsy, Marshall–Smith syndrome, Septo-Optic Dysplasia, Intellectual disability, Child, Genetics (clinical), Research Articles, biology, Sotos syndrome, Exons, NFIX, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, Hand Deformities, Congenital, Research Article, Adult, medicine.medical_specialty, Prominent forehead, phenotype‐genotype, Adolescent, phenotype, Mutation, Missense, 03 medical and health sciences, Young Adult, Intellectual Disability, Genetics, medicine, Congenital Hypothyroidism, Humans, Abnormalities, Multiple, Malan syndrome, Weaver syndrome, Bone Diseases, Developmental, Macrocephaly, medicine.disease, Marshall-Smith syndrome, Megalencephaly, NFI Transcription Factors, 030104 developmental biology, Marshall‐Smith syndrome, biology.protein

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e8c7db7dc828e88348f7ed242503f89Test
http://europepmc.org/articles/PMC6175110Test

المؤلفون: Paola Francesca Ajmone, Maria Luisa Poch-Olive, Jens Erik Klint Nielsen, Christiane Zweier, Giovanni Sorge, Marzia Pollazzon, Bert Callewaert, Jeroen Breckpot, Olivera Djuric, Chiara Baldo, Rikke S. Møller, Isabella Mammi, Livia Garavelli, Gioacchino Scarano, Baris Malbora, Alessandro Iodice, Lucio Giordano, Marina Grasso, Alessandro Pellicciari, Marcella Zollino, Daniele De Brasi, Aurélien Trimouille, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Ina Schanze, Sébastien Moutton, Anna Kutkowska-Kazmierczak, Agata Fiumara, Andrea Conidi, Emilia Ricci, Duccio Maria Cordelli, Roberta Epifanio, Allan Bayat, Federico Bonvicini, Magdalena Badura-Stronka, Lorenzo Iughetti, Tina Duelund Hjortshøj, Anita Rauch, Vladimir Kuburovic, Giulia Montorsi, Elvis rci Te Valera, Debora Formisano, Stefano Giuseppe Caraffi, Krzysztof Szczaluba, Daniela Santodirocco, Sabine Grønborg, Francesca Faravelli, Maria Antonietta Pisanti, Didier Lacombe, Gijs W. E. Santen, Margherita Silengo, Ivan Ivanovski, Luis G. Tone, Goran Cuturilo, Francesca Mari, Guido Cocchi, Margaret P. Adam, Simonetta Rosato, Chiara Pantaleoni, Patrizia Accorsi, Nicoletta Zanotta, Ewa Obersztyn, Maddalena Baldi, Angelo Selicorni, Alessandra Renieri, Annick Toutain, Mary Beth Dinulos, Petra Muschke, Luigina Spaccini, Luigi Tarani, Igor Prpić, Francesca Rivieri, Koenraad Devriendt, Stefania Bigoni, Robert Smigiel, Anna Luchetti, Federico Raviglione, Martin Zenker, Caterina Lo Rizzo, Salvatore Savasta

المساهمون: Cell biology, Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

المصدر: Genetics in Medicine, 20(9), 965-975. Lippincott Williams & Wilkins
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221Test
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221Test
Volume 20
Issue 9

مصطلحات موضوعية: 0301 basic medicine, Male, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, Microcephaly/diagnosis, Settore MED/03 - GENETICA MEDICA, Bioinformatics, Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2, Hirschsprung Disease/diagnosis, BOX 1B GENE, Abnormalities, Multiple/genetics, Genotype, Intellectual disability, Medicine and Health Sciences, Missense mutation, Mowat-Wilson syndrome, Family history, Child, Genetics (clinical), BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Intellectual Disability/diagnosis, Phenotype, ZEB2 gene. Mowat-Wilson syndrome, intellectual disability, 3. Good health, SIBLINGS, Child, Preschool, Microcephaly, Female, Adult, Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2, Adolescent, 03 medical and health sciences, Genetic variation, medicine, Humans, Abnormalities, Multiple, Hirschsprung Disease, RECURRENCE, ZFHX1B MUTATIONS, Genetic Association Studies, Genetic association, Zinc Finger E-box Binding Homeobox 2, SPECTRUM, SMAD-INTERACTING PROTEIN-1, business.industry, CLINICAL-FEATURES, ZEB2 gene. Mowat-Wilson syndrome, Biology and Life Sciences, Facies, Infant, HIRSCHSPRUNG-DISEASE, medicine.disease, Zinc Finger E-box Binding Homeobox 2/genetics, DELINEATION, Genetic Association Studies/methods, 030104 developmental biology, Mutation, business, MENTAL-RETARDATION

وصف الملف: application/pdf; Print-Electronic; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594a350d1254cd94b377a69599bd8301Test
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9daTest

المؤلفون: Françoise Devillard, Marie Bidart, Véronique Satre, Pierre-Simon Jouk, Pauline Le Tanno, Frédérique Béna, Pierre F. Ray, Klaus Dieterich, Ida Vogel, Julie Breton, Maria Antonietta Pisanti, Charles Coutton, Hervé Sartelet, Luisa Mackenroth, Siv Fokstuen, M. C. Digilio, Fitsum Guebre-Egziabher, Alexia Apostolou, Karl Hackmann, C Bosson, Rikke Christensen, Sylvie Odent, Antonio Novelli, Radu Harbuz, Rachel Beddow, Gemma Poke, Laura Bernardini, Sylvie Jaillard, Gaëlle Vieville, Florence Amblard

المصدر: Le Tanno, P, Breton, J, Bidart, M, Satre, V, Harbuz, R, Ray, P F, Bosson, C, Dieterich, K, Jaillard, S, Odent, S, Poke, G, Beddow, R, Digilio, M C, Novelli, A, Bernardini, L, Pisanti, M A, Mackenroth, L, Hackmann, K, Vogel, I, Christensen, R, Fokstuen, S, Béna, F, Amblard, F, Devillard, F, Vieville, G, Apostolou, A, Jouk, P-S, Guebre-Egziabher, F, Sartelet, H & Coutton, C 2017, ' PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans ', Journal of Medical Genetics, vol. 54, no. 7, pp. 502-510 . https://doi.org/10.1136/jmedgenet-2016-104435Test

مصطلحات موضوعية: 0301 basic medicine, Genetics, Fetus, Pregnancy, Pathology, medicine.medical_specialty, Kidney, Microarray analysis techniques, Urinary system, Genetic counseling, 030105 genetics & heredity, Biology, medicine.disease, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, Journal Article, medicine, Copy-number variation, Haploinsufficiency, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66666cd0586cface1fed31d3f6b63bf4Test
https://doi.org/10.1136/jmedgenet-2016-104435Test

المؤلفون: Davide De Brasi, Maria Antonietta Pisanti, Roberta Petillo, Cristina Tortora, Paolo Fontana, Mariateresa Falco, Martina Miniero

المصدر: American Journal of Medical Genetics Part A. 170:2445-2448

مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, 030105 genetics & heredity, Short stature, 03 medical and health sciences, Frontal Bossing, Genetics, medicine, Humans, Abnormalities, Multiple, Clinical phenotype, Genetic Association Studies, Genetics (clinical), Ultrasonography, business.industry, Long philtrum, Brain, Infant, Syndrome, Anatomy, Magnetic Resonance Imaging, Hypotonia, Phenotype, 030104 developmental biology, Echocardiography, Square face, Chromosomes, Human, Pair 5, Chromosome Deletion, medicine.symptom, Prominent columella, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0734bf7183834b3347822ed8e0d5107aTest
https://doi.org/10.1002/ajmg.a.37824Test

المؤلفون: Carmelo Laganà, Fiorella Gurrieri, Maria Luigia Cavaliere, Manuela Priolo, Anita Wischmeijer, Giulia Rodella, Maria Antonietta Pisanti, Corrado Mammì, Giovanni Neri

المصدر: European Journal of Medical Genetics. 58:488-491

مصطلحات موضوعية: Male, Protein family, Developmental Disabilities, Mutation, Missense, Overgrowth syndrome, Settore MED/03 - GENETICA MEDICA, Craniofacial Abnormalities, Septo-Optic Dysplasia, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Child, Gene, Genetics (clinical), Bone Diseases, Developmental, Sotos Syndrome, biology, Nuclear factor I, Sotos syndrome, Intracellular Signaling Peptides and Proteins, Infant, Nuclear Proteins, Histone-Lysine N-Methyltransferase, General Medicine, DNA-binding domain, medicine.disease, NFIX, Molecular biology, DNA-Binding Proteins, NFI Transcription Factors, Phenotype, DNA-Binding/dimerization domain, Histone Methyltransferases, biology.protein, Female, Haploinsufficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66ae4412caabdaf7d9fd5ddb829c1be9Test
https://doi.org/10.1016/j.ejmg.2015.06.009Test

المؤلفون: Paola D'Ambrosio, Roberta Petillo, Maria Antonietta Pisanti, Cristina Tortora, Simona Cavani, Martina Miniero, Paolo Fontana, Davide De Brasi, Michela Malacarne

المصدر: European journal of medical genetics. 60(3)

مصطلحات موضوعية: 0301 basic medicine, Adult, Karyotype, Potential candidate, Trisomy, Biology, 03 medical and health sciences, Gene duplication, Genetics, medicine, Humans, Genetics (clinical), Metatarsal Bones, Shortened metacarpals, Brachydactyly, Infant, Forkhead Transcription Factors, General Medicine, Metacarpal Bones, Middle Aged, medicine.disease, 030104 developmental biology, Italy, Chromosomes, Human, Pair 6, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::590204756c83fcb9fbfaf9464c5f8a02Test
https://pubmed.ncbi.nlm.nih.gov/28111183Test