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Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: A case report and review of the literature

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2276-2286

2014

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Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

Movement disorders, 2018-07, Vol.33 (7), p.1119-1129

2018

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Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene

Neonatology (Basel, Switzerland), 2019-10, Vol.116 (3), p.290-294

2019

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SLITRK6 mutations cause myopia and deafness in humans and mice

The Journal of clinical investigation, 2013-05, Vol.123 (5), p.2094-2102

2013

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Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature

Children (Basel), 2022-11, Vol.9 (12), p.1879

2022

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Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e797-n/a

2019

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Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report

Human reproduction (Oxford), 2019-09, Vol.34 (9), p.1838-1846

2019

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Putins People: How the KGB Took Back Russia and Then Took On the West

Naval War College Review, 2021-06, Vol.74 (3), p.181-183

Petersen, Michael B

2021

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Nature (London), 2012-09, Vol.489 (7415), p.313-317

2012

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The spectrum of intermediate SCN8A‐related epilepsy

Epilepsia (Copenhagen), 2019-05, Vol.60 (5), p.830-844

2019

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Juvenile Paget's Disease: The Second Reported, Oldest Patient Is Homozygous for the TNFRSF11B “Balkan” Mutation (966_969delTGACinsCTT), Which Elevates Circulating Immunoreactive Osteoprotegerin Levels

Journal of bone and mineral research, 2007-06, Vol.22 (6), p.938-946

2007

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Oxidative stress in dry age-related macular degeneration and exfoliation syndrome

Critical reviews in clinical laboratory sciences, 2015-02, Vol.52 (1), p.12-27

2015

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Arctic Militarization and Russian Military Theory

Orbis (Philadelphia), 2021-01, Vol.65 (3), p.490-512

2021

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Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II

Nature genetics, 1996-12, Vol.14 (4), p.400-405

1996

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effect of human embryonic stem cells (hESCs) long-term normoxic and hypoxic cultures on the maintenance of pluripotency

In vitro cellular & developmental biology. Animal, 2010-04, Vol.46 (3-4), p.276-283

2010

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Age-related macular degeneration: genetic and clinical findings

Clinical chemistry and laboratory medicine, 2011-04, Vol.49 (4), p.601-616

2011

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Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

Human mutation, 2011-01, Vol.32 (1), p.2-9

2011

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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Human mutation, 2020-03, Vol.41 (3), p.641-654

2020

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A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

Human genetics, 2022-04, Vol.141 (3-4), p.951-963

2022

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Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature

Journal of medical case reports, 2016-12, Vol.10 (1), p.374-374, Article 374

2016

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Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

Human mutation, 2005-06, Vol.25 (6), p.543-549

2005

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First reported adult patient with TARP syndrome: A case report

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2915-2918

2018

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Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: Molecular cytogenetic analysis and review of the literature

The journal of obstetrics and gynaecology research, 2010-04, Vol.36 (2), p.435-440

2010

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Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population

Human mutation, 2005-04, Vol.25 (4), p.327-333

2005

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The use of array-CGH in a cohort of Greek children with developmental delay

Molecular cytogenetics, 2010-11, Vol.3 (1), p.22-22

2010

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Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: A case report and review of the literature

Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene

SLITRK6 mutations cause myopia and deafness in humans and mice

Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report

Putins People: How the KGB Took Back Russia and Then Took On the West

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

The spectrum of intermediate SCN8A‐related epilepsy

Juvenile Paget's Disease: The Second Reported, Oldest Patient Is Homozygous for the TNFRSF11B “Balkan” Mutation (966_969delTGACinsCTT), Which Elevates Circulating Immunoreactive Osteoprotegerin Levels

Oxidative stress in dry age-related macular degeneration and exfoliation syndrome

Arctic Militarization and Russian Military Theory

Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II

effect of human embryonic stem cells (hESCs) long-term normoxic and hypoxic cultures on the maintenance of pluripotency

Age-related macular degeneration: genetic and clinical findings

Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

First reported adult patient with TARP syndrome: A case report

Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: Molecular cytogenetic analysis and review of the literature

Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population

The use of array-CGH in a cohort of Greek children with developmental delay

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