المؤلفون: Rim Khelifi, Afef Jelloul, Houda Ajmi, Wafa Slimani, Sarra Dimassi, Khouloud Rjiba, Manel Dardour, Moez Gribaa, Ali Saad, Soumaya Mougou-Zerelli

المصدر: AIMS Molecular Science, Vol 11, Iss 4, Pp 379-394 (2024)

مصطلحات موضوعية: cgh-array, williams beuren-syndrome, autistic traits, hip1, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2372-0301

URL الوصول: https://doaj.org/article/ba2fb3c42adc40ef812e14f02d9d63c8

المؤلفون: Izadora Sthephanie da Silva Assis, Kaio Cezar Rodrigues Salum, Rafaela de Freitas Martins Felício, Lohanna Palhinha, Gabriella de Medeiros Abreu, Tamara Silva, Fernanda Cristina Carvalho Mattos, Eliane Lopes Rosado, Verônica Marques Zembrzuski, Mario Campos Junior, Clarissa Menezes Maya-Monteiro, Pedro Hernán Cabello, João Regis Ivar Carneiro, Patrícia Torres Bozza, Ana Carolina Proença da Fonseca

المصدر: Frontiers in Endocrinology, Vol 15 (2025)

مصطلحات موضوعية: genetic obesity, copy number variations, SH2B1, bariatric surgery, MLPA, CGH-array, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2024.1495534/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/f3b6edd37f9349c58f6b55ea6398c9ce

المؤلفون: Amina Chentouf, Mohand Laid Oubaiche, Malika Chaouch

المصدر: Journal de la Faculté de Médecine d'Oran, Vol 1, Iss 1 (2024)

مصطلحات موضوعية: Epilepsy, genetics, mutation, CGH array, exome sequencing, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.ajol.info/index.php/jfmo/article/view/276862; https://doaj.org/toc/2571-9874; https://doaj.org/toc/2602-6511

URL الوصول: https://doaj.org/article/15f3a7eaf25f41d8beff4aad0dd4dc99

المؤلفون: Hemangini Vora, Mansi Desai, Ghanshyam Patel, Nupur Patel, Prabhudas Patel

المصدر: Advances in Cancer Biology - Metastasis, Vol 9, Iss , Pp 100109- (2023)

مصطلحات موضوعية: CGH array, Transcriptome array, TNBC, Biomarker, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667394023000230; https://doaj.org/toc/2667-3940

URL الوصول: https://doaj.org/article/a003cc38fa2148b39a0d64a500703621

المؤلفون: Pelin, Katarina, Sagath, Lydia, Lehtonen, Johanna, Kiiski, Kirsi, Tynninen, Olli, Paetau, Anders, Johari, Mridul, Savarese, Marco, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta

المساهمون: Katarina Pelin / Principal Investigator, Molecular and Integrative Biosciences Research Programme, Genetics, Department of Medical and Clinical Genetics, Medicum, Institute for Molecular Medicine Finland, HUSLAB, HUS Diagnostic Center, Department of Pathology, Faculty Common Matters (Faculty of Medicine)

مصطلحات موضوعية: NMD-CGH array, Nemaline myopathy, RNA sequencing, Tpm3, Alpha-tropomyosin, Linked-read sequencing, Neurology and psychiatry, Neurosciences

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10138/566886; 85170581934; 001067500200018

الاتاحة: http://hdl.handle.net/10138/566886

المؤلفون: Amina Chentouf, Mohand Laid Oubaiche, Malika Chaouch

المصدر: Journal de la Faculté de Médecine d'Oran, Vol 1, Iss 1 (2022)

مصطلحات موضوعية: Epilepsy, genetics, mutation, CGH array, exome sequencing, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://confajol3.ajol.info/index.php/jmfo/article/view/455; https://doaj.org/toc/2571-9874; https://doaj.org/toc/2602-6511

URL الوصول: https://doaj.org/article/8eb21e67d2674e05a3cdf9ccc776b55c

المؤلفون: Dall'Asta, A, Stampalija, T, Mecacci, F, Ramirez Zegarra, R, Sorrentino, S, Minopoli, M, Ottaviani, C, Fantasia, I, Barbieri, M, Lisi, F, Simeone, S, Castellani, R, Fichera, A, Rizzo, G, Prefumo, F, Frusca, T, Ghi, T

المساهمون: Dall'Asta, A, Stampalija, T, Mecacci, F, Ramirez Zegarra, R, Sorrentino, S, Minopoli, M, Ottaviani, C, Fantasia, I, Barbieri, M, Lisi, F, Simeone, S, Castellani, R, Fichera, A, Rizzo, G, Prefumo, F, Frusca, T, Ghi, T

مصطلحات موضوعية: CGH-array, aneuploidy, congenital malformation, fetal growth restriction, perinatal outcome, respiratory complication

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35638182; info:eu-repo/semantics/altIdentifier/wos/WOS:000919715700005; volume:60; issue:5; firstpage:632; lastpage:639; numberofpages:8; journal:ULTRASOUND IN OBSTETRICS & GYNECOLOGY; https://hdl.handle.net/11368/3029250; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141663846

الاتاحة: https://hdl.handle.net/11368/3029250
https://doi.org/10.1002/uog.24961
https://obgyn.onlinelibrary.wiley.com/doi/10.1002/uog.24961

المؤلفون: Jihenne Ben Aissa-Haj, Hugo Pinheiro, François Cornelis, Molka Sebai, Didier Meseure, Adrien Briaux, Philippe Berteaux, Cedric Lefol, Gaëtan Des Guetz, Martine Trassard, Denise Stevens, François Vialard, Ivan Bieche, Catherine Noguès, Roseline Tang, Carla Oliveira, Dominique Stoppat-Lyonnet, Rosette Lidereau, Etienne Rouleau

المصدر: Genes; Volume 13; Issue 12; Pages: 2213

مصطلحات موضوعية: breast carcinoma, gastric carcinoma, CDH1 rearrangements, CNV, CGH array, BRCA1/2 negative cases

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13122213

الاتاحة: https://doi.org/10.3390/genes13122213

المؤلفون: Mayo de Andrés, Sonia

Thesis Advisors: Martínez Castellano, Francisco, Orellana Alonso, Carmen, Departament de Bioquímica i Biologia Molecular

مصطلحات موضوعية: Genética Humana, Genética Molecular, Epigenética, CGH-array, metilación del ADN, Trastornos del neurodesarrollo, Discapacidad intelectual, Trastornos del espectro autista, UNESCO::CIENCIAS DE LA VIDA::Genética

URL الوصول: http://hdl.handle.net/10550/47942

المؤلفون: Monfort Membrado, Sandra

Thesis Advisors: Martínez Castellano, Francisco, Orellana Alonso, Carmen, Departament de Genètica

مصطلحات موضوعية: FISH, genética, discapacidad, CGH-array, UNESCO::CIENCIAS DE LA VIDA::Genética, UNESCO::CIENCIAS MÉDICAS

URL الوصول: http://hdl.handle.net/10550/34817

المؤلفون: Mayo de Andrés, Sonia

Thesis Advisors: Martínez Castellano, Francisco, Orellana Alonso, Carmen, Departament de Bioquímica i Biologia Molecular

مصطلحات موضوعية: Genética Humana, Genética Molecular, Epigenética, CGH-array, metilación del ADN, Trastornos del neurodesarrollo, Discapacidad intelectual, Trastornos del espectro autista, UNESCO::CIENCIAS DE LA VIDA::Genética

URL الوصول: http://hdl.handle.net/10803/570123

المؤلفون: Monfort Membrado, Sandra

Thesis Advisors: Martínez Castellano, Francisco, Orellana Alonso, Carmen, Departament de Genètica

مصطلحات موضوعية: FISH, genética, discapacidad, CGH-array, UNESCO::CIENCIAS DE LA VIDA::Genética, UNESCO::CIENCIAS MÉDICAS

URL الوصول: http://hdl.handle.net/10803/568568

المؤلفون: Mayo de Andrés, Sonia

Thesis Advisors: Martínez Castellano, Francisco, Orellana Alonso, Carmen, Departament de Bioquímica i Biologia Molecular

مصطلحات موضوعية: Genética Humana, Genética Molecular, Epigenética, CGH-array, metilación del ADN, Trastornos del neurodesarrollo, Discapacidad intelectual, Trastornos del espectro autista, UNESCO::CIENCIAS DE LA VIDA::Genética

URL الوصول: http://hdl.handle.net/10550/47942

المؤلفون: Monfort Membrado, Sandra

Thesis Advisors: Martínez Castellano, Francisco, Orellana Alonso, Carmen, Departament de Genètica

مصطلحات موضوعية: FISH, genética, discapacidad, CGH-array, UNESCO::CIENCIAS DE LA VIDA::Genética, UNESCO::CIENCIAS MÉDICAS

URL الوصول: http://hdl.handle.net/10550/34817

المؤلفون: Alice Monzani, Deepak Babu, Simona Mellone, Giulia Genoni, Antonella Fanelli, Flavia Prodam, Simonetta Bellone, Mara Giordano

المصدر: BMC Medical Genomics, Vol 12, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Short stature, SHOX, Enhancers, CGH array, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12920-018-0445-8; https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/ed50ad52839b4ec9b6f469eca4213fd4

المؤلفون: Jury, Jeanne

المساهمون: Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Mathilde Nizon

المصدر: https://dumas.ccsd.cnrs.fr/dumas-04756854 ; Médecine humaine et pathologie. 2024.

مصطلحات موضوعية: Hyperclarté nucale, Maladies chromosomiques, Grossesse, Caryotypes, CGH array, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: PPN: 281138974

الاتاحة: https://dumas.ccsd.cnrs.fr/dumas-04756854
https://dumas.ccsd.cnrs.fr/dumas-04756854v1/document
https://dumas.ccsd.cnrs.fr/dumas-04756854v1/file/juryMED24.pdf

المؤلفون: D. Dell’Edera, C. Dilucca, A. Allegretti, F. Simone, M. G. Lupo, C. Liccese, R. Davanzo

المصدر: Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Developmental delay, Intellectual disability, CGH-array, Submicroscopic chromosomal changes, 16p11.2 microdeletion syndrome, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13256-018-1587-1; https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/710b35ccf60642f2b6335c56d4437970

المؤلفون: Manuela Lo Bianco, Davide Vecchio, Tiziana A. Timpanaro, Alessia Arena, Marina Macchiaiolo, Andrea Bartuli, Laura Sciuto, Santiago Presti, Sarah Sciuto, Annamaria Sapuppo, Agata Fiumara, Lidia Marino, Giulia Messina, Piero Pavone

المصدر: Brain Sciences; Volume 10; Issue 7; Pages: 451

مصطلحات موضوعية: invdupdel(8p), 8p23.1 sub-band, chromosome 8, genomic rearrangement, inversion, deletion, duplication, CGH-array, FISH

وصف الملف: application/pdf

Relation: Molecular and Cellular Neuroscience; https://dx.doi.org/10.3390/brainsci10070451

الاتاحة: https://doi.org/10.3390/brainsci10070451

المؤلفون: Natacha Sloboda, Arthur Sorlin, Mylène Valduga, Mylène Beri-Dexheimer, Claire Bilbault, Fanny Fouyssac, Aurélie Becker, Laëtitia Lambert, Céline Bonnet, Bruno Leheup

المصدر: Frontiers in Immunology, Vol 10 (2019)

مصطلحات موضوعية: 7p22, vasculitis, hypogammaglobulinemia, CGH array, dysimmunity, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2019.01871/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/487faa94bec64c72981b2715acde4e8c

المؤلفون: Kiiski, Kirsi J., Lehtokari, Vilma-Lotta, Vihola, Anna K., Laitila, Jenni M., Huovinen, Sanna, Sagath, Lydia J., Evilä, Anni E., Paetau, Anders E., Sewry, Caroline A., Hackman, Peter B., Pelin, Katarina B., Wallgren-Pettersson, Carina, Udd, Bjarne

المساهمون: Medicum, University of Helsinki, Department of Medical and Clinical Genetics, Katarina Pelin / Principal Investigator, HUSLAB, Clinicum, Department of Pathology, Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences

مصطلحات موضوعية: Dominant nemaline myopathy, Distal myopathy, Cap myopathy, Nebulin, Nemaline myopathy-CGH Array, ALPHA-ACTIN GENE, CONGENITAL MYOPATHY, MUTATIONS, IDENTIFICATION, DISEASE, RODS, MYOSIN, Neurosciences, Neurology and psychiatry

وصف الملف: application/pdf

Relation: This study was supported by grants from the Sigrid Juselius Foundation, the Academy of Finland, the Association Francaise contre les Myopathies, Muscular Dystrophy UK, the Finska Lakaresallskapet and the Medicinska understodsforeningen Liv och Halsa.; Kiiski , K J , Lehtokari , V-L , Vihola , A K , Laitila , J M , Huovinen , S , Sagath , L J , Evilä , A E , Paetau , A E , Sewry , C A , Hackman , P B , Pelin , K B , Wallgren-Pettersson , C & Udd , B 2019 , ' Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene ' , Neuromuscular Disorders , vol. 29 , no. 2 , pp. 97-107 . https://doi.org/10.1016/j.nmd.2018.12.007; ORCID: /0000-0002-7040-7266/work/56619016; ORCID: /0000-0002-8276-0972/work/56622422; ORCID: /0000-0002-6754-3830/work/56622495; ORCID: /0000-0002-1004-9612/work/161721200; http://hdl.handle.net/10138/300908; 17c97f17-843e-4dde-9964-fa3d61adcf17; 85060197885; 000462421400002

الاتاحة: http://hdl.handle.net/10138/300908