نتائج البحث - "New mutation"

1

A Novel Mutation (p.Met1?) of a Cuban Patient in the NAGLU Gene with Mucopolysaccharidosis IIIB

المؤلفون: Hector Vera Cuesta, Laritza Martínez Rey, Tatiana Acosta Sánchez, Deynis Carmenate Naranjo

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210013, Published: 09 AUG 2021

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002b0539955a481b7aeca343ab3223ebTest
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100505&tlng=enTest

2

SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation

المؤلفون: Virginia Fano, Karen E. Heath, Mariana del Pino, David Medino-Martín, Abel Gomez, Miriam Aza-Carmona, María Gabriela Obregon

المصدر: J Pediatr Genet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b503a5e02233843fe4d4c7ec1e2c6331Test
https://doi.org/10.1055/s-0039-1691788Test

3

A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20

المؤلفون: M. Bengoa Caamaño, J M Pardal-Fernandez, S. Álvarez, M C Carrascosa-Romero, C. de Cabo, M.C. Medina-Monzón

المصدر: Neuromuscular Disorders. 28:881-884

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c3cd92b125b1a458d7b30f02ec35eaTest
https://doi.org/10.1016/j.nmd.2018.06.020Test

4

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease

المؤلفون: Charles Marques Lourenço, Jaime Eduardo Cecílio Hallak, Wilson Marques, Pedro J. Tomaselli, Silmara P. Gouvea, Fernanda Barbosa Figueiredo, Silvana Giuliatti, Wilson A. Silva, Anna Paula Paranhos Miranda Covaleski

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Population, Prevalence, Nerve Tissue Proteins, Disease, Biology, Cohort Studies, 03 medical and health sciences, Tooth disease, Young Adult, 0302 clinical medicine, Recessive inheritance, Charcot-Marie-Tooth Disease, Humans, education, Child, Gene, Genetics (clinical), Likely pathogenic, Genetics, Guanine Deaminase, education.field_of_study, MUTAÇÃO GENÉTICA, Axons, nervous system diseases, Pedigree, 030104 developmental biology, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, New mutation, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery, Brazil

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef65dc156ae331e9a88bd20c1ef50efbTest
https://pubmed.ncbi.nlm.nih.gov/33903021Test

5

Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases

المؤلفون: Panlai Shi, Conghui Wang, Rui Li, Xiangdong Kong

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Adult, Parents, copy number variations (CNVs), 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, lcsh:QH426-470, endocrine system diseases, 030105 genetics & heredity, Biology, CNV‐seq, Young Adult, 03 medical and health sciences, Fetus, Likely benign, Pregnancy, Gene Duplication, mental disorders, Gene duplication, Genetics, Humans, Clinical significance, Copy-number variation, Molecular Biology, Uncertain significance, Genetics (clinical), Likely pathogenic, parental origin, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Original Articles, clinical interpretation, lcsh:Genetics, 030104 developmental biology, New mutation, Amniocentesis, Female, Original Article, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acae10248934d7e1bd9aba8473dacba3Test
https://doi.org/10.1002/mgg3.944Test

6

Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene

المؤلفون: Stephen O. Brennan, Darrell Wang, Campbell R. Sheen, Mark Horridge

المصدر: Hemoglobin. 41:140-143

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bbe307f4d1f97bc81cc34ea015a2d60Test
https://doi.org/10.1080/03630269.2017.1311911Test

7

Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature

المؤلفون: Ashwin Dalal, Shagun Aggarwal, Ashish Bahal

المصدر: European Journal of Medical Genetics. 59:5-10

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, General Medicine, Biology, Occludin, medicine.disease, medicine.disease_cause, Phenotype, 03 medical and health sciences, Exon, 030104 developmental biology, New mutation, medicine, Polymicrogyria, Gene, Genetics (clinical), Calcification

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a46c174ad7f2ac3d8917a000a2b47c00Test
https://doi.org/10.1016/j.ejmg.2015.11.014Test

8

A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of β1-tubulin plays a role in microtubule assembly

المؤلفون: Xavier Pillois, C Goulas, M Fiore

المصدر: Clinical Genetics. 91:924-926

مصطلحات موضوعية: 0301 basic medicine, Microtubule assembly, 030204 cardiovascular system & hematology, Biology, Molecular biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Protein structure, Tubulin, Terminal (electronics), Microtubule, New mutation, Gene expression, DNA Mutational Analysis, Genetics, biology.protein, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::75c0df14de1125f422b970fc83022f07Test
https://doi.org/10.1111/cge.12879Test

9

SevereWalker Warburg syndrome associated with new mutation in ISPDgene identified with whole exome sequencing

المؤلفون: A. Kaçar Bayram, Hüseyin Per, Ahmet Okay Caglayan, Sefer Kumandaş, Hakan Gümüş

مصطلحات موضوعية: Genetics, Neurology, Pediatrics, Perinatology and Child Health, New mutation, medicine, Neurology (clinical), Biology, Walker–Warburg syndrome, medicine.disease, Gene, Genetics (clinical), Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63ca535ec7031e18d462e5b967d588cfTest
https://avesis.erciyes.edu.tr/publication/details/7d9b908d-8fde-4e65-b8a6-5f4b5ad4d11b/oaiTest

10

A new mutation for Huntington disease following maternal transmission of an intermediate allele

المؤلفون: Martine J. van Belzen, Emilia K. Bijlsma, Irene M. van Langen, R. D. M. Belfroid, Alicia Semaka, Monique Losekoot, Chris Kay, Michael R. Hayden, Merel C. van Maarle, Mayke Oosterloo

المساهمون: Human Genetics, Ethical, Legal, Social Issues in Genetics (ELSI), Reproductive Origins of Adult Health and Disease (ROAHD), Health Psychology Research (HPR), MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience

المصدر: European Journal of Medical Genetics, 58(1), 28-30
European journal of medical genetics, 58(1), 28-30. Elsevier Masson SAS
European journal of medical genetics, 58(1), 28-30. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 58(1), 28-30. Elsevier

مصطلحات موضوعية: Male, haplotype, medicine.disease_cause, Fathers, 0302 clinical medicine, cognitive defect, differential diagnosis, Cognitive decline, Genetics (clinical), Genetics, CAG repeat, 0303 health sciences, Huntingtin Protein, Maternal Transmission, New mutation, allele, article, General Medicine, Huntington disease, Penetrance, HTT gene, 3. Good health, Female, Adult, congenital, hereditary, and neonatal diseases and abnormalities, heredity, Genetic counseling, Mothers, Nerve Tissue Proteins, Biology, Intermediate allele, 03 medical and health sciences, Heredity, mental disorders, medicine, case report, Humans, human, Allele, penetrance, gene, paternity test, Alleles, 030304 developmental biology, Huntington chorea, genetic counseling, Maternal CAG repeat expansion, Haplotype, Mutation, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery, dementia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df59443abf8a5b9ba54f35d6cfcc8a36Test
https://cris.maastrichtuniversity.nl/en/publications/dde7a46a-dee0-4956-8d07-179a756d8db7Test

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