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An evaluation of PGD in clinical genetic services through 3 years application for prevention of β‐thalassaemia major and sickle cell thalassaemia.
- Published in:
- Molecular Human Reproduction, 2003, v. 9, n. 5, p. 301
- By:
- Publication type:
- Article
Multiplex sequence variation detection throughout the CFTR gene appropriate for preimplantation genetic diagnosis in populations with heterogeneity of cystic fibrosis mutations.
- Published in:
- Molecular Human Reproduction, 2002, v. 8, n. 9, p. 880, doi. 10.1093/molehr/8.9.880
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- Publication type:
- Article
Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.
- Published in:
- 2011
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- Publication type:
- journal article
Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 225, doi. 10.1159/000527777
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- Publication type:
- Article
239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 321, doi. 10.1159/000516635
- By:
- Publication type:
- Article
Hemoglobinopathies and preimplantation diagnostics.
- Published in:
- International Journal of Laboratory Hematology, 2022, v. 44, p. 21, doi. 10.1111/ijlh.13851
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- Publication type:
- Article
Detection of acquired hemoglobinopathy in children with hematological malignancies at disease onset: results form a national referral centre.
- Published in:
- International Journal of Hematology, 2013, v. 98, n. 5, p. 563, doi. 10.1007/s12185-013-1451-4
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- Publication type:
- Article
A Greek National Cross-Sectional Study on Myotonic Dystrophies.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 15507, doi. 10.3390/ijms232415507
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- Publication type:
- Article
The c.504T>C (p.Asn168Asn) polymorphism in the ABCB4 gene as a predisposing factor for intrahepatic cholestasis of pregnancy in Greece.
- Published in:
- 2010
- By:
- Publication type:
- Letter
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3563, doi. 10.1002/ajmg.a.62971
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- Publication type:
- Article
Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2561, doi. 10.1002/ajmg.a.62338
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- Publication type:
- Article
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.
- Published in:
- Muscle & Nerve, 2024, v. 70, n. 2, p. 240, doi. 10.1002/mus.28180
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- Publication type:
- Article
Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus.
- Published in:
- British Journal of Haematology, 2019, v. 186, n. 6, p. e165, doi. 10.1111/bjh.16043
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- Publication type:
- Article
Preimplantation genetic diagnosis in 10 couples at risk for transmitting β-thalassaemia major: clinical experience including the initiation of six singleton pregnancies.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 13, p. 1217, doi. 10.1002/(SICI)1097-0223(199912)19:13<1217::AID-PD723>3.0.CO;2-2
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- Publication type:
- Article
A widely applicable strategy for single cell genotyping of β-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 13, p. 1209, doi. 10.1002/(SICI)1097-0223(199912)19:13<1209::AID-PD722>3.0.CO;2-6
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- Publication type:
- Article
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 426, doi. 10.1038/ejhg.2014.131
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- Publication type:
- Article
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 560, doi. 10.1038/ejhg.2015.39
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- Publication type:
- Article
Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1012, doi. 10.1038/ejhg.2013.277
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- Publication type:
- Article
The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 800, doi. 10.1038/ejhg.2012.244
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- Publication type:
- Article
Characterization of nondeletion α-thalassemia mutations in the Greek population.
- Published in:
- American Journal of Hematology, 1993, v. 44, n. 3, p. 162, doi. 10.1002/ajh.2830440305
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- Publication type:
- Article
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.
- Published in:
- Children, 2024, v. 11, n. 6, p. 705, doi. 10.3390/children11060705
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- Publication type:
- Article
SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.
- Published in:
- Clinical Case Reports, 2021, v. 9, n. 10, p. 1, doi. 10.1002/ccr3.4605
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- Publication type:
- Article
Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.634313
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- Publication type:
- Article
What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee†.
- Published in:
- Human Reproduction, 2010, v. 25, n. 4, p. 821, doi. 10.1093/humrep/dep476
- By:
- Publication type:
- Article
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.79713
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- Publication type:
- Article
Heterozygosity of the Complex Corfu δ 0 β + Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited.
- Published in:
- Biology (2079-7737), 2022, v. 11, n. 3, p. 432, doi. 10.3390/biology11030432
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- Publication type:
- Article
Two novel variants in the TCF12 gene identified in cases with craniosynostosis.
- Published in:
- Application of Clinical Genetics, 2019, v. 12, p. 19, doi. 10.2147/TACG.S190855
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- Publication type:
- Article
Psychomotor development of children born after preimplantation genetic diagnosis and parental stress evaluation.
- Published in:
- World Journal of Pediatrics, 2012, v. 8, n. 4, p. 309, doi. 10.1007/s12519-012-0374-0
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- Publication type:
- Article
Unusual phenotypic observations associated with a rare HbH disease genotype (--Med/α TSaudiα): implications for clinical management.
- Published in:
- British Journal of Haematology, 2002, v. 119, n. 1, p. 265, doi. 10.1046/j.1365-2141.2002.03777.x
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- Publication type:
- Article
Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience.
- Published in:
- British Journal of Haematology, 2000, v. 111, n. 3, p. 915, doi. 10.1046/j.1365-2141.2000.02448.x
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- Publication type:
- Article
Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09214-0
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- Publication type:
- Article
Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09214-0
- By:
- Publication type:
- Article
PGD for glycogen storage disease type IV: Birth of healthy twins following successful clinical application of a mutation-specific protocol.
- Published in:
- Prenatal Diagnosis, 2010, v. 30, n. 2, p. 180, doi. 10.1002/pd.2435
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- Publication type:
- Article
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
- Published in:
- Human Mutation, 2022, v. 43, n. 8, p. 1089, doi. 10.1002/humu.24280
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- Publication type:
- Article
Mutations in the chromatin-associated protein ATRX.
- Published in:
- 2008
- By:
- Publication type:
- Other
Photoprotein aequorin as a novel reporter for SNP genotyping by primer extension-application to the variants of mannose-binding lectin gene.
- Published in:
- Human Mutation, 2006, v. 27, n. 3, p. 279, doi. 10.1002/humu.20300
- By:
- Publication type:
- Article
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 1016, doi. 10.3390/genes15081016
- By:
- Publication type:
- Article
A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1490, doi. 10.3390/genes14071490
- By:
- Publication type:
- Article
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8928, doi. 10.3390/ijms25168928
- By:
- Publication type:
- Article
SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5644, doi. 10.3390/ijms25115644
- By:
- Publication type:
- Article
Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3400, doi. 10.3390/ijms25063400
- By:
- Publication type:
- Article
Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.
- Published in:
- Human Mutation, 2004, v. 23, n. 5, p. 513, doi. 10.1002/humu.20022
- By:
- Publication type:
- Article
A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.
- Published in:
- Human Mutation, 1997, v. 9, n. 3, p. 274, doi. 10.1002/(SICI)1098-1004(1997)9:3<274::AID-HUMU10>3.0.CO;2-#
- By:
- Publication type:
- Article
The Corfu δβ thalassaemia mutation in Greece: haematological phenotype and prevalence.
- Published in:
- British Journal of Haematology, 1991, v. 79, n. 2, p. 302, doi. 10.1111/j.1365-2141.1991.tb04537.x
- By:
- Publication type:
- Article