المؤلفون: Janis Stavusis, Ieva Micule, Ieva Grinfelde, Anna Zdanovica, Janis Pudulis, Sandra Valeina, Svetlana Sepetiene, Baiba Lace, Inna Inashkina

المصدر: Medicina, Vol 60, Iss 1, p 99 (2024)

مصطلحات موضوعية: LAMP2, Danon disease, altered splicing, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1648-9144/60/1/99; https://doaj.org/toc/1010-660X; https://doaj.org/toc/1648-9144

URL الوصول: https://doaj.org/article/e476b890a8fd42ac837eabb6050b7dc7

المؤلفون: Lauma Vasilevska, Madara Auzenbaha, Ieva Grinfelde, Anita Skangale

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: enzyme replacement therapy (ERT), mucopolysaccharidosis type I, laronidase, multi drug resistant tuberculosis (MDR-TB), latent tuberculosis treatment, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.973193/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/cf38c9f31df4419b8f4997af663ca955

المؤلفون: Baiba Lace, Sander Pajusalu, Diana Livcane, Ieva Grinfelde, Ilze Akota, Ieva Mauliņa, Biruta Barkāne, Janis Stavusis, Inna Inashkina

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: isolated cleft palate, whole genome sequencing, rare monogenic diseases, recurrence risk, PCGF2, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.828534/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/44c4b4a9359040f3ac9ab501a5db201d

المؤلفون: Baiba Alksere, Liene Kornejeva, Ieva Grinfelde, Aigars Dzalbs, Dace Enkure, Una Conka, Santa Andersone, Arita Blumberga, Liene Nikitina-Zake, Liga Kangare, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Juris Erenpreiss, Violeta Fodina

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100796- (2021)

مصطلحات موضوعية: EDA, PGT-M, XLHED, Ectodermal dysplasia, Christ-Siemens-Touraine syndrome, X-linked recessive disorder, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000902; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/78751b9f28d64b6cbcc1ed83c4ccf488

المؤلفون: Arta Katkevica, Madara Kreile, Ieva Grinfelde, Gita Taurina, Ieva Micule, Iveta Dzivite-Krisane, Arta Smite-Laguna, Ieva Malniece

المصدر: Case Reports in Medicine, Vol 2021 (2021)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1687-9635

URL الوصول: https://doaj.org/article/0a2a163ec95f41babe723e6e2379e8b8

المؤلفون: Baiba Alksere, Dace Berzina, Alesja Dudorova, Una Conka, Santa Andersone, Evija Pimane, Sandra Krasucka, Arita Blumberga, Aigars Dzalbs, Ieva Grinfelde, Natalija Vedmedovska, Violeta Fodina, Juris Erenpreiss

المصدر: Case Reports in Genetics, Vol 2019 (2019)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552

URL الوصول: https://doaj.org/article/db4c77e2dfda4b958b187b17b56c0370

المؤلفون: Ferdinand Dhombres, Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Beneteau, Pilar Cacheiro, Leigh C. Carmody, Sophie Collardeau‐Frachon, Esther A. Dempsey, Andreas Dufke, Michael Henri Duyzend, Mirna el Ghosh, Jessica L. Giordano, Ragnhild Glad, Ieva Grinfelde, Dominic G. Iliescu, Markus S. Ladewig, Monica C. Munoz‐Torres, Marzia Pollazzon, Francesca Clementina Radio, Carlota Rodo, Raquel Gouveia Silva, Damian Smedley, Jagadish Chandrabose Sundaramurthi, Sabrina Toro, Irene Valenzuela, Nicole A. Vasilevsky, Ronald J. Wapner, Roni Zemet, Melissa A Haendel, Peter N. Robinson

المساهمون: Institut Català de la Salut, [Dhombres F] Sorbonne University, GRC26, INSERM, Limics, Armand Trousseau Hospital, Fetal Medicine Department, APHP, Paris, France. [Morgan P] American College of Medical Genetics and Genomics, Newborn Screening Translational Research Network, Bethesda, USA. [Chaudhari BP] Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, USA. [Filges I] University Hospital Basel and University of Basel, Medical Genetics, Basel, Switzerland. [Sparks TN] Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, California, USA. [Lapunzina P] CIBERER and Hospital Universitario La Paz, INGEMM-Institute of Medical and Molecular Genetics, Madrid, Spain. [Rodo C] Grup de Recerca en Medicina Materna i Fetal, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Sorbonne Paris Nord, American College of Medical Genetics and Genomics [Bethesda, MD, USA] (ACM2G), Nationwide Children's Hospital, University Hospital Basel [Basel], University of Basel (Unibas), University of California [San Francisco] (UC San Francisco), University of California (UC), CIBER de Enfermedades Raras (CIBERER), Hospital Universitario La Paz, University of New South Wales [Canberra Campus] (UNSW), Liverpool Women's NHS Foundation Trust, Nizam's Institute of Medical Sciences (NIMS), Centre hospitalier universitaire de Nantes (CHU Nantes), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Queen Mary University of London (QMUL), The Jackson Laboratory [Bar Harbor] (JAX), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Société Française de Foetopathologie [Paris] (SOFFOET), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), St George's, University of London, University of Tübingen, Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Columbia University Irving Medical Center (CUIMC), University Hospital of North Norway [Tromsø] (UNN), Children's Clinical University Hospital [Riga, Latvia] (CCUH), University of Medicine and Pharmacy of Craiova, Saarland University Hospital (UKS), University of Colorado Anschutz [Aurora], AUSL di Reggio Emilia Istituto di Ricerca a Carattere Clinico Scientifico [Reggio Emilia, Italie], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Vall d'Hebron University Hospital [Barcelona], Hospital de Santa Maria [Lisboa], Centro Hospitalar Universitário Lisboa Norte [Lisbon, Portugal] (CHULN), Baylor College of Medicine (BCM), Baylor University, CarMeN, laboratoire

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics, vol 190, iss 2
Scientia
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022, 190 (2), pp.231-242. ⟨10.1002/ajmg.c.31989⟩

مصطلحات موضوعية: prenatal phenotyping, [SDV]Life Sciences [q-bio], Placenta, Clinical Sciences, Diagnòstic prenatal, fetal pathology, Reproductive health and childbirth, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras [ENFERMEDADES], Rare Diseases, Pregnancy, Clinical Research, Exome Sequencing, Genetics, Humans, Genetics (clinical), Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Obstetrical and Gynecological::Prenatal Diagnosis [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Pediatric, Genetics & Heredity, diagnóstico::técnicas y procedimientos diagnósticos::técnicas diagnósticas obstétricas y ginecológicas::diagnóstico prenatal [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], screening and diagnosis, prenatal diagnosis, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [DISEASES], Prevention, Human Genome, Infant, Newborn, Computational Biology, Infant, Perinatal Period - Conditions Originating in Perinatal Period, Newborn, 4.1 Discovery and preclinical testing of markers and technologies, [SDV] Life Sciences [q-bio], Fenotip, Detection, Phenotype, Good Health and Well Being, Neurological, Genetic Phenomena::Phenotype [PHENOMENA AND PROCESSES], GA4GH Phenopacket, Congenital Structural Anomalies, Female, Hpo, HPO, Malalties rares, fenómenos genéticos::fenotipo [FENÓMENOS Y PROCESOS], human phenotype ontology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7868c6e2a3c2cf8b86d012bff20253c5
https://escholarship.org/uc/item/9m25x832

المؤلفون: Baiba Alksere, Sandra Krasucka, Una Conka, Irina Kovalova, Violeta Fodina, Ieva Grinfelde, Liene Kornejeva, Santa Andersone, Natalija Vedmedovska, Dace Berzina, Aigars Dzalbs, Arita Blumberga

المصدر: Gynecological Endocrinology. 36:53-57

مصطلحات موضوعية: Adult, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Reproductive medicine, Fertilization in Vitro, History, 21st Century, Retrospective data, Endocrinology, Obstetrics and gynaecology, Pregnancy, Humans, Medicine, Genetic Testing, Preimplantation Diagnosis, Retrospective Studies, Fertility Clinics, Mosaicism, business.industry, Obstetrics, Pregnancy Outcome, Obstetrics and Gynecology, Embryo, Embryo Transfer, medicine.disease, Latvia, Patient counselling, Treatment Outcome, Case-Control Studies, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa93a12eeb3f7535277673076c3ab6e9
https://doi.org/10.1080/09513590.2020.1816719

المؤلفون: Baiba Lace, Ieva Micule, Viktorija Kenina, Signe Setlere, Jurgis Strautmanis, Inese Kazaine, Gita Taurina, Daiga Murmane, Ieva Grinfelde, Liene Kornejeva, Zita Krumina, Olga Sterna, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Janis Stavusis, Diana Livcane, Dita Kidere, Ieva Malniece, Inna Inashkina

المصدر: Neurology. Genetics. 8(3)

مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66c8215a25fc61b6bb843a58a02f51b5
https://pubmed.ncbi.nlm.nih.gov/36381256

المؤلفون: Baiba Lace, Sander Pajusalu, Diana Livcane, Ieva Grinfelde, Ilze Akota, Ieva Mauliņa, Biruta Barkāne, Janis Stavusis, Inna Inashkina

المصدر: Frontiers in genetics. 13

مصطلحات موضوعية: Genetics, Molecular Medicine, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9593fd2ac66963300f94c98b37926f67
https://pubmed.ncbi.nlm.nih.gov/35281813

المؤلفون: Violeta Fodina, Linda Gailite, Inta Vasiljeva, Baiba Alksere, Liga Kangare, Juris Erenpreiss, Dace Enkure, Aigars Dzalbs, Liene Nikitina-Zake, Arita Blumberga, Liene Kornejeva, Ieva Grinfelde, Una Conka, Santa Andersone, Ilze Radovica-Spalvina

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100796-(2021)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Ectodermal dysplasia, Medicine (General), QH301-705.5, Case Report, Biology, Endocrinology, R5-920, Recessive inheritance, Genetics, medicine, Hypohidrotic ectodermal dysplasia, Allele, Biology (General), Molecular Biology, X-linked recessive inheritance, Genetic testing, medicine.diagnostic_test, PGT-M, XLHED, medicine.disease, Family member, Christ-Siemens-Touraine syndrome, Ectodysplasin A, EDA, X-linked recessive disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d18319dc3a8de81bcf059e41cefd614e
http://www.sciencedirect.com/science/article/pii/S2214426921000902

المؤلفون: Baiba Lace, Sander Pajusalu, Diana Livcane, Ieva Grinfelde, Ilze Akota, Ieva Mauliņa, Biruta Barkāne, Janis Stavusis, Inna Inashkina

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, isolated cleft palate, whole genome sequencing, rare monogenic diseases, recurrence risk, PCGF2

Relation: https://figshare.com/articles/dataset/DataSheet1_Monogenic_Versus_Multifactorial_Inheritance_in_the_Development_of_Isolated_Cleft_Palate_A_Whole_Genome_Sequencing_Study_docx/19225542

الاتاحة: https://doi.org/10.3389/fgene.2022.828534.s001
https://figshare.com/articles/dataset/DataSheet1_Monogenic_Versus_Multifactorial_Inheritance_in_the_Development_of_Isolated_Cleft_Palate_A_Whole_Genome_Sequencing_Study_docx/19225542

المؤلفون: Ieva Micule, Gita Taurina, Madara Kreile, Ieva Malniece, Arta Smite-Laguna, Iveta Dzivite-Krisane, Ieva Grinfelde, Arta Katkevica

المصدر: Case Reports in Medicine, Vol 2021 (2021)
Case Reports in Medicine

مصطلحات موضوعية: Proband, Pregnancy, Pediatrics, medicine.medical_specialty, business.industry, Offspring, Incidence (epidemiology), Prenatal diagnosis, Case Report, General Medicine, medicine.disease, medicine, Effective treatment, Medicine, Presentation (obstetrics), Extrapyramidal dysfunction, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00fa780f82df1610e9aaacc5ac5d98fd
https://doaj.org/article/0a2a163ec95f41babe723e6e2379e8b8

المؤلفون: Natalija Vedmedovska, Arita Blumberga, Dace Berzina, Aigars Dzalbs, Ieva Grinfelde, Baiba Alksere, Alesja Dudorova, Evija Pimane, Santa Andersone, Violeta Fodina, Juris Erenpreiss, Una Conka, Sandra Krasucka

المصدر: Case Reports in Genetics, Vol 2019 (2019)
Case Reports in Genetics

مصطلحات موضوعية: Infertility, Genetics, 030219 obstetrics & reproductive medicine, lcsh:QH426-470, Chromosome, Case Report, General Medicine, Biology, medicine.disease, Secondary infertility, Male infertility, 03 medical and health sciences, lcsh:Genetics, 0302 clinical medicine, DDX3Y gene, Male fertility, 030220 oncology & carcinogenesis, medicine, Gene, Spermatogenic failure

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58db52fb4505bf702c15d2ec777956a7
https://doaj.org/article/db4c77e2dfda4b958b187b17b56c0370

المؤلفون: Linda Piekuse, Inga Kempa, Ieva Grinfelde, Janis Klovins, Liana Pliss, Astrida Krumina, Alexandre R. Vieira, Baiba Lace

المصدر: European Journal of Oral Sciences. 119:413-417

مصطلحات موضوعية: Genetics, Candidate gene, education.field_of_study, Mitochondrial DNA, Population, Haplotype, Biology, Haplogroup, stomatognathic diseases, education, General Dentistry, Gene, Genotyping, Genetic association

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::14e7f0a5f13362aeba5a523b25b24eeb
https://doi.org/10.1111/j.1600-0722.2011.00877.x

المؤلفون: N. Pronina, Ieva Grinfelde, Ja Bars, Ju Erenpreiss, Astrida Krumina, Viesturs Baumanis, V Lejins, Agrita Puzuka, Inese Pelnena, Liana Pliss

المصدر: Russian Journal of Genetics. 47:347-353

مصطلحات موضوعية: Genetics, Infertility, education.field_of_study, Y chromosome microdeletion, Population, Latvian, Biology, medicine.disease, Y chromosome, Haplogroup, Human genetics, language.human_language, Male infertility, medicine, language, education

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::daf3a7159555384bf1e92b60393970a2
https://doi.org/10.1134/s1022795411020141

المؤلفون: Ieva Grinfelde, Inga Kempa, Ieva Maulina, Erika Nagle, Alexandre R. Vieira, Ilze Akota, Astrida Krumina, Janis Stavusis, Janis Klovins, Biruta Barkane, Baiba Lace

المصدر: Birth defects research. Part A, Clinical and molecular teratology. 94(11)

مصطلحات موضوعية: Oncology, Adult, Genetic Markers, Male, Embryology, medicine.medical_specialty, Genotype, Cephalometry, Cleft Lip, Locus (genetics), Biology, B-Cell Lymphoma 3 Protein, Internal medicine, Proto-Oncogene Proteins, medicine, Humans, Craniofacial, Allele, Gene, Alleles, Genetic Association Studies, Aged, Genetics, Skull, General Medicine, Craniometry, Middle Aged, Cleft Palate, Phenotype, Genetic marker, Genetic Loci, Face, Pediatrics, Perinatology and Child Health, Interferon Regulatory Factors, Mutation, Linear Models, IRF6, Female, Chromosomes, Human, Pair 19, Developmental Biology, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f36736a837a13413e88a0d5cb4931441
https://pubmed.ncbi.nlm.nih.gov/23115114

المؤلفون: Baiba, Lace, Inga, Kempa, Linda, Piekuse, Ieva, Grinfelde, Janis, Klovins, Liana, Pliss, Astrida, Krumina, Alexandre R, Vieira

المصدر: European journal of oral sciences. 119(6)

مصطلحات موضوعية: Male, Cleft Lip, Collagen Type XI, DNA, Mitochondrial, Latvia, Cleft Palate, Wnt3 Protein, Haplotypes, Reference Values, Case-Control Studies, Databases, Genetic, Ethnicity, Humans, Female, Genetic Association Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7bb9fda200aae8a3012513a2d049900c
https://pubmed.ncbi.nlm.nih.gov/22112025