نتائج البحث - "Phenotype-genotype correlations"

1

دورية أكاديمية

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

مصطلحات موضوعية: Spinal muscular atrophy, SMN2 copies, Phenotype-genotype correlations, Positive modifiers, Next-generation sequencing

وصف الملف: application/pdf

العلاقة: Instituto de Salud Carlos III FIS PI18/000687; International journal of molecular sciences; Vol. 23 Núm. 15 (august 2022), p. 8289; https://ddd.uab.cat/record/275207Test; urn:10.3390/ijms23158289; urn:oai:ddd.uab.cat:275207; urn:scopus_id:85136343087; urn:articleid:14220067v23n15p8289; urn:oai:pubmedcentral.nih.gov:9368089; urn:pmid:35955418; urn:pmc-uid:9368089; urn:pmcid:PMC9368089

الإتاحة: https://ddd.uab.cat/record/275207Test

View record in BASE

النص الكامل

2

دورية أكاديمية

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 15; Pages: 8289

مصطلحات موضوعية: spinal muscular atrophy, SMN2 copies, phenotype–genotype correlations, positive modifiers, next-generation sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23158289Test

الإتاحة: https://doi.org/10.3390/ijms23158289Test

View record in BASE

3

دورية أكاديمية

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

المؤلفون: Boursier, Guilaine, Rittore, Cécile, Milhavet, Florian, Cuisset, Laurence, Touitou, Isabelle

المساهمون: Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Université de Montpellier (UM), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Hôpital Cochin AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: ISSN: 2077-0383 ; Journal of Clinical Medicine ; https://hal.science/hal-03656309Test ; Journal of Clinical Medicine, 2021, 10 (8), pp.1552. ⟨10.3390/jcm10081552⟩.

مصطلحات موضوعية: Autoinflammatory diseases, Hyper-IgD syndrome, Mevalonate kinase deficiency, Mevalonic aciduria, Phenotype–genotype correlations, Porokeratosis, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33917151; hal-03656309; https://hal.science/hal-03656309Test; https://hal.science/hal-03656309/documentTest; https://hal.science/hal-03656309/file/jcm-10-01552-v2.pdfTest; PUBMED: 33917151; PUBMEDCENTRAL: PMC8067830; WOS: 000644466500001

الإتاحة: https://doi.org/10.3390/jcm10081552Test
https://hal.science/hal-03656309Test
https://hal.science/hal-03656309/documentTest
https://hal.science/hal-03656309/file/jcm-10-01552-v2.pdfTest

View record in BASE

4

دورية أكاديمية

Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies

المؤلفون: Elsayed, Liena, E O, Eltazi, Isra, Z M, Ahmed, Ammar, E, Stevanin, Giovanni

المساهمون: University of Khartoum, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)

المصدر: ISSN: 1473-7175.

مصطلحات موضوعية: hereditary spastic paraplegias, phenotype-genotype correlations Acknowledgements, neurodegenerative diseases, Spasticity, phenotype-genotype correlations, neurogenetic, motor neuron disease, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31037979; hal-02179465; https://hal.sorbonne-universite.fr/hal-02179465Test; https://hal.sorbonne-universite.fr/hal-02179465/documentTest; https://hal.sorbonne-universite.fr/hal-02179465/file/STEVANIN_Giovanni.pdfTest; PUBMED: 31037979

الإتاحة: https://doi.org/10.1080/14737175.2019.1608824Test
https://hal.sorbonne-universite.fr/hal-02179465Test
https://hal.sorbonne-universite.fr/hal-02179465/documentTest
https://hal.sorbonne-universite.fr/hal-02179465/file/STEVANIN_Giovanni.pdfTest

View record in BASE

5

دورية أكاديمية

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

المؤلفون: Silvia Vidal, Ainhoa Pascual‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)

مصطلحات موضوعية: large deletions, MECP2, Phenotype‐genotype correlations, Rett syndrome, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/1c84a3c1e8154de99ac1fb8e067727f2Test

View record in DOAJ

النص الكامل

6

دورية أكاديمية

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out”

المؤلفون: Vahidnezhad, Hassan, Youssefian, Leila, Daneshpazhooh, Maryam, Mahmoudi, Hamidreza, Kariminejad, Ariana, Fischer, Judith, Christiansen, Julie, Schneider, Holm, Guy, Alyson, Liu, Lu, McGrath, John A., Has, Cristina, Uitto, Jouni

المصدر: Vahidnezhad , H , Youssefian , L , Daneshpazhooh , M , Mahmoudi , H , Kariminejad , A , Fischer , J , Christiansen , J , Schneider , H , Guy , A , Liu , L , McGrath , J A , Has , C & Uitto , J 2019 , ' Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out” ' , Matrix Biology , vol. 83 , pp. 48-59 . https://doi.org/10.1016/j.matbio.2019.07.002Test

مصطلحات موضوعية: Epidermolysis bullosa simplex, KRT5 homozygosity, Next generation sequencing, Phenotype-genotype correlations

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.matbio.2019.07.002Test
https://kclpure.kcl.ac.uk/portal/en/publications/16a6b7bc-4e46-4ab3-840a-b2fdcdd53f5dTest
https://kclpure.kcl.ac.uk/ws/files/114893404/MATBIO_2019_190_R1_Manuscript_Text.pdfTest
http://www.scopus.com/inward/record.url?scp=85069739169&partnerID=8YFLogxKTest

View record in BASE

7

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

المؤلفون: Eduardo F. Tizzano, Ivon Cuscó, Laura Blasco-Pérez, Sara Bernal, Jordi Leno, Ida Paramonov, Laura Alias, Pablo Fuentes-Prior

المصدر: Human Mutation
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: SMN2 copies, DNA Copy Number Variations, Genotype, DNA Mutational Analysis, phenotype–, Gene Dosage, genotype correlations, next‐generation sequencing, Phenotype-genotype correlations, Computational biology, Disease, SMN1, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, DNA sequencing, law.invention, Muscular Atrophy, Spinal, 03 medical and health sciences, law, generation sequencing, Genetics, medicine, Methods, paralogous variants, Humans, Gene, Genetics (clinical), Polymerase chain reaction, Genetic Association Studies, 030304 developmental biology, phenotype–genotype correlations, spinal muscular atrophy, 0303 health sciences, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Spinal muscular atrophy, medicine.disease, SMA, Phenotype, Survival of Motor Neuron 1 Protein, nervous system diseases, Survival of Motor Neuron 2 Protein, next‐, Next-generation sequencing

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efc2e2956237942ba042acd0da8f4ab7Test
http://europepmc.org/articles/PMC8252042Test

8

رسالة جامعية

Identification and characterization of known and novel gene defects involved in inherited retinal degenerations ; Identification et caractérisation des défauts géniques responsables des dystrophies rétiniennes héréditaires

المؤلفون: Smirnov, Vasily

المساهمون: Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université, Isabelle Audo, Christina Zeitz

المصدر: https://theses.hal.science/tel-04348745Test ; Genetics. Sorbonne Université, 2022. English. ⟨NNT : 2022SORUS490⟩.

مصطلحات موضوعية: Inherited retinal degeneration, Genetics, Phenotype-genotype correlations, Dystrophie rétinienne, Génétique, Corrélation génotype-phénotype, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: NNT: 2022SORUS490; tel-04348745; https://theses.hal.science/tel-04348745Test; https://theses.hal.science/tel-04348745/documentTest; https://theses.hal.science/tel-04348745/file/SMIRNOV_Vasily_these_2022.pdfTest

الإتاحة: https://theses.hal.science/tel-04348745Test
https://theses.hal.science/tel-04348745/documentTest
https://theses.hal.science/tel-04348745/file/SMIRNOV_Vasily_these_2022.pdfTest

View record in BASE

9

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 'knock-out'

المؤلفون: Holm Schneider, Hamidreza Mahmoudi, Maryam Daneshpazhooh, Jouni Uitto, Lu Liu, Ariana Kariminejad, Alyson Guy, Judith Fischer, Julie Christiansen, Hassan Vahidnezhad, Leila Youssefian, Cristina Has, John A. McGrath

المصدر: Vahidnezhad, H, Youssefian, L, Daneshpazhooh, M, Mahmoudi, H, Kariminejad, A, Fischer, J, Christiansen, J, Schneider, H, Guy, A, Liu, L, McGrath, J A, Has, C & Uitto, J 2019, ' Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out” ', Matrix Biology, vol. 83, pp. 48-59 . https://doi.org/10.1016/j.matbio.2019.07.002Test

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Mutation, Missense, Phenotype-genotype correlations, Biology, 03 medical and health sciences, Epidermolysis bullosa simplex, 0302 clinical medicine, Loss of Function Mutation, Next generation sequencing, Exome Sequencing, Genotype, medicine, Humans, Missense mutation, Molecular Biology, Gene, Exome sequencing, Genetics, Gene Expression Profiling, Homozygote, Infant, Newborn, High-Throughput Nucleotide Sequencing, Autosomal dominant trait, KRT5 homozygosity, medicine.disease, Null allele, Pedigree, Keratin 5, Alternative Splicing, Phenotype, 030104 developmental biology, Child, Preschool, Epidermolysis Bullosa Simplex, 030220 oncology & carcinogenesis, Keratin-5, Female