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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Genetics in medicine, 2020-07, Vol.22 (7), p.1235-1246

2020

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Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters

American journal of ophthalmology case reports, 2022-06, Vol.26, p.101452, Article 101452

2022

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Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles

Journal of ophthalmology, 2018-01, Vol.2018, p.5706142-10

2018

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Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations

American journal of ophthalmology case reports, 2018-06, Vol.10, p.172-179

2018

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Corrigendum to “Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles”

Journal of ophthalmology, 2018, Vol.2018, p.3039672-1

2018

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Donor-derived breast cancer in a bone marrow transplantation recipient

Breast cancer research and treatment, 2009-01, Vol.113 (2), p.211-213

2009

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Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene

World journal of surgical oncology, 2011-01, Vol.9 (1), p.6-6, Article 6

2011

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Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease

JAMA ophthalmology, 2020-10, Vol.138 (10), p.1035

2020

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Absence of hotspot mutations in exons 9 and 20 of the PIK3CA gene in human oral squamous cell carcinoma in the Greek population

Oral surgery, oral medicine, oral pathology, oral radiology and endodontics, 2010-05, Vol.109 (5), p.e53-e58

2010

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First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation

Molecular vision, 2014, Vol.20, p.691-703

2014

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

Biomolecules (Basel, Switzerland), 2024-03, Vol.14 (3), p.367

2024

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G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history

Breast cancer research and treatment, 2008-07, Vol.110 (2), p.377-385

2008

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Novel mutations of the HRAS gene and absence of hotspot mutations of the BRAF genes in oral squamous cell carcinoma in a Greek population

Oncology reports, 2012-05, Vol.27 (5), p.1555-1560

2012

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X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

Hormones (Athens, Greece), 2014, Vol.13 (1), p.146-152

2014

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Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene

European journal of endocrinology, 2008-12, Vol.159 (6), p.767

2008

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Identification of two novel mutations in the RET proto-oncogene in the same family

Thyroid (New York, N.Y.), 2010-04, Vol.20 (4), p.401

2010

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Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients

Breast cancer research and treatment, 2008-02, Vol.107 (3), p.431-441

2008

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Donor-derived breast cancer in a bone marrow transplantation recipient

Breast cancer research and treatment, 2009-01, Vol.113 (1), p.211

2009

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Donor-derived breast cancer in a bone marrow transplantation recipient

Breast cancer research and treatment, 2009, Vol.113 (2), p.215-215

2009

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Donor-derived breast cancer in a bone marrow transplantation recipient

Breast cancer research and treatment, 2009-01, Vol.113 (1), p.215

2009

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Novel germline mutations of the MEN1 gene in Greek families with multiple endocrine neoplasia type 1

Clinical endocrinology (Oxford), 2009-01, Vol.70 (1), p.75-81

2009

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X chromosome linkage studies in familial Rett syndrome

Human genetics, 1993, Vol.90 (5), p.551-555

1993

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G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history

Breast cancer research and treatment, 2008-07, Vol.110 (1), p.377

2008

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Definitive Chromosomal Orientation of the IL3-GMCSF to TCF-1 5q23 Region: Structural Analysis and Expression Profiles of a Novel Gene Encoding a Golgi-Associated Protein and of Two New Splice Isoforms Oo the Chondroitin Synthase 3 Gene Involved within the 5q Deletion in Ph(−) CML and MDS

Blood, 2004-11, Vol.104 (11), p.3421-3421

2004

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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles

Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations

Corrigendum to “Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles”

Donor-derived breast cancer in a bone marrow transplantation recipient

Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease

Absence of hotspot mutations in exons 9 and 20 of the PIK3CA gene in human oral squamous cell carcinoma in the Greek population

First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation

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

G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history

Novel mutations of the HRAS gene and absence of hotspot mutations of the BRAF genes in oral squamous cell carcinoma in a Greek population

X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene

Identification of two novel mutations in the RET proto-oncogene in the same family

Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients

Donor-derived breast cancer in a bone marrow transplantation recipient

Donor-derived breast cancer in a bone marrow transplantation recipient

Donor-derived breast cancer in a bone marrow transplantation recipient

Novel germline mutations of the MEN1 gene in Greek families with multiple endocrine neoplasia type 1

X chromosome linkage studies in familial Rett syndrome

G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history

Definitive Chromosomal Orientation of the IL3-GMCSF to TCF-1 5q23 Region: Structural Analysis and Expression Profiles of a Novel Gene Encoding a Golgi-Associated Protein and of Two New Splice Isoforms Oo the Chondroitin Synthase 3 Gene Involved within the 5q Deletion in Ph(−) CML and MDS

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