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Search life-sciences literature (45,100,050 articles, preprints and more)

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1-13 of 13 results

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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, [...] Cremers FPM
Biomolecules, 14(3):367, 19 Mar 2024
Cited by: 0 articles | PMID: 38540785 | PMCID: PMC10967834
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The recurrent deep intronic pseudoexon-inducing variantCOL6A1c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Natera-de Benito D, Quijano-Roy S, Stojkovic T, Merlini L, [...] Bönnemann CG
medRxiv, 29 Mar 2024
Cited by: 0 articles | PPR: PPR829894
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Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene.
Roddate M, Tauriņa G, Krutovs V, Rots D, Kēniņa V
Am J Case Rep, 24:e939217, 22 May 2023
Cited by: 0 articles | PMID: 37211757 | PMCID: PMC10215998
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The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures.
Čupāne TL, Dīriks M, Tauriņa G, Korņejeva L, Gailīte L, Mālniece I, Auzenbaha M
Case Rep Med, 2023:3480298, 01 Jun 2023
Cited by: 0 articles | PMID: 37303748 | PMCID: PMC10250090
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Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.
Nartisa I, Kirsteina R, Neiburga KD, Zigure S, Ozola L, Grantina I, Micule I, Murmane D, Slisere B, Gailite L, Vilne B, Rots D, Taurina G, Kurjane N
Pediatr Allergy Immunol, 34(4):e13937, 01 Apr 2023
Cited by: 0 articles | PMID: 37102386
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The first registered type 0 spinal muscular atrophy patient in Latvia: call for change in prenatal diagnostic procedures, case report
Cupane TL, Diriks M, Taurina G, Kornejeva L, Gailite L, Malniece I, Auzenbaha M
Research Square, 24 Oct 2022
Cited by: 0 articles | PPR: PPR561252
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Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.
Auzenbaha M, Aleksejeva E, Taurina G, Kornejeva L, Kempa I, Svabe V, Gailite L
Diagnostics (Basel), 12(11):2893, 21 Nov 2022
Cited by: 2 articles | PMID: 36428953 | PMCID: PMC9689702
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Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Lace B, Micule I, Kenina V, Setlere S, Strautmanis J, Kazaine I, Taurina G, Murmane D, Grinfelde I, Kornejeva L, Krumina Z, Sterna O, Radovica-Spalvina I, Vasiljeva I, Gailite L, Stavusis J, Livcane D, Kidere D, Malniece I, Inashkina I
Neurol Genet, 8(3):e685, 16 May 2022
Cited by: 2 articles | PMID: 36381256 | PMCID: PMC9641966
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Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia.
Katkevica A, Kreile M, Grinfelde I, Taurina G, Micule I, Dzivite-Krisane I, Smite-Laguna A, Malniece I
Case Rep Med, 2021:5266820, 26 Nov 2021
Cited by: 1 article | PMID: 34868319 | PMCID: PMC8641989
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GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease.
Kovale S, Terauda R, Millere E, Taurina G, Murmane D, Isakova J, Kenina V, Gailite L
Case Rep Neurol, 13(2):422-428, 01 May 2021
Cited by: 0 articles | PMID: 34326750 | PMCID: PMC8299378
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Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy.
Millere E, Rots D, Glazere I, Taurina G, Kurjane N, Priedite V, Gailite L, Blennow K, Zetterberg H, Kenina V
Front Neurol, 11:586610, 20 Jan 2021
Cited by: 3 articles | PMID: 33551952 | PMCID: PMC7856139
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The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H, ERN-EYE study group
Orphanet J Rare Dis, 16(1):142, 20 Mar 2021
Cited by: 17 articles | PMID: 33743793 | PMCID: PMC7980559
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A Giant Arteriovenous Malformation and Fistula in a Newborn with Parkes Weber Syndrome. Case Report.
Auzina L, Skuja E, Janis Safranovs T, Ozolins V, Kidikas H, Taurina G, Lubaua I
Acta Med Litu, 27(2):90-99, 23 Dec 2020
Cited by: 2 articles | PMID: 34113214 | PMCID: PMC7968948
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1-13 of 13 results

Search life-sciences literature (45,100,050 articles, preprints and more)

Search results

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

The recurrent deep intronic pseudoexon-inducing variantCOL6A1c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene.

The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures.

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.

The first registered type 0 spinal muscular atrophy patient in Latvia: call for change in prenatal diagnostic procedures, case report

Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.

Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.

Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia.

GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease.

Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy.

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.

A Giant Arteriovenous Malformation and Fistula in a Newborn with Parkes Weber Syndrome. Case Report.

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