نتائج البحث - "Marja‐Leena Väisänen"

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دورية أكاديمية

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

المؤلفون: Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel‐Saied, Marja‐Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Suzanne M. Leal

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)

مصطلحات موضوعية: autosomal recessive, CABP2, hearing impairment, Genetics, QH426-470

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/cbb5456d32564b2dbad9eab4e1b6f46aTest

View record in DOAJ

النص الكامل

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Cytosolic phosphoenolpyruvate carboxykinase deficiency : Expanding the clinical phenotype and novel laboratory findings

المؤلفون: Tuula Arkkola, Matti Nuutinen, Maria K Haanpää, Marja-Leena Väisänen, Päivi J. Miettinen, Katariina Latva, Päivi Myllynen, Riikka Keski-Filppula, Kari Kaunisto, Virpi Sidoroff, Pekka Valmari, Johanna Uusimaa, Elisa Rahikkala, Irina I Nagy, Marja Ojaniemi, Päivi Vieira

المساهمون: HYKS erva, Päijät-Häme Welfare Consortium, Centre of Excellence in Stem Cell Metabolism, HUS Children and Adolescents, Clinicum, Timo Pyry Juhani Otonkoski / Principal Investigator, Children's Hospital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d20a81f8a7091a7775f554f28b632014Test
http://hdl.handle.net/10138/353343Test

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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

المساهمون: Human Genetics, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, Institute for Molecular Medicine Finland, University of Helsinki, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator, Lauri Antti Aaltonen / Principal Investigator, Genome-Scale Biology (GSB) Research Program, Department of Medical and Clinical Genetics, Medicum, University Management, Genomics of Neurological and Neuropsychiatric Disorders, Amsterdam Reproduction & Development (AR&D)

المصدر: Genetics in Medicine
Genetics in medicine, 21(10), 2355-2363. Lippincott Williams and Wilkins
Genetics in Medicine, 21(10), 2355-2363. Lippincott Williams and Wilkins

مصطلحات موضوعية: Male, Candidate gene, HIDEA syndrome, HYPOXIA, Compound heterozygosity, 0302 clinical medicine, Loss of Function Mutation, Exome, Eye Abnormalities, Child, Genetics (clinical), Exome sequencing, Sanger sequencing, Genetics, 0303 health sciences, TRANSMEMBRANE PROLYL 4-HYDROXYLASE, 1184 Genetics, developmental biology, physiology, DEFECTS, Hypoventilation, Syndrome, Hypotonia, 3. Good health, Pedigree, Phenotype, intellectual disability, Child, Preschool, symbols, hypoventilation, Muscle Hypotonia, Female, Ubiquitin-Specific Proteases, medicine.symptom, Transketolase, ENZYMES, Adult, Adolescent, Locus (genetics), Primary Dysautonomias, ERYTHROCYTOSIS, Article, Prolyl Hydroxylases, 03 medical and health sciences, symbols.namesake, Young Adult, Genetic linkage, Intellectual Disability, Exome Sequencing, medicine, Humans, Abnormalities, Multiple, P4HTM, 030304 developmental biology, Epilepsy, business.industry, Dysautonomia, PHD2 MUTATION, 3111 Biomedicine, business, exome sequencing, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d56ae6ff71c96037aa49f1bae47a9ffdTest
http://europepmc.org/articles/PMC6774999Test

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Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 20(9)

مصطلحات موضوعية: Hyperglycinemia, medicine, Computational biology, Biology, medicine.disease, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a2b32c993e788ae20372a8d49e7f391Test
https://pubmed.ncbi.nlm.nih.gov/27362913Test

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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA)

المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2017, 19 (1), pp.104--111. ⟨10.1038/gim.2016.74⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Hyperglycinemia, [SDV]Life Sciences [q-bio], medicine.disease_cause, 0302 clinical medicine, Genotype, Missense mutation, AMT, Exome, Genetics (clinical), GLDC, Genetics, Glycine Decarboxylase Complex, education.field_of_study, Mutation, medicine.diagnostic_test, nonketotic hyperglycinemia, ENCEPHALOPATHY, Exons, Glycine Dehydrogenase (Decarboxylating), 3. Good health, glycine cleavage enzyme, P-PROTEIN, Female, Hyperglycinemia, Nonketotic, DEXTROMETHORPHAN, Population, Glycine, Mutation, Missense, Biology, DIAGNOSIS, 03 medical and health sciences, medicine, Aminomethyltransferase, Humans, Genetic Testing, Allele, education, HUMAN GLYCINE DECARBOXYLASE, Alleles, Genetic testing, Dihydrolipoamide Dehydrogenase, IDENTIFICATION, BENZOATE, CLEAVAGE SYSTEM, DELETION, medicine.disease, Introns, 030104 developmental biology, 030217 neurology & neurosurgery