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Abnormal thyroid function is common in takotsubo syndrome and depends on two distinct mechanisms: results of a multicentre observational study

Journal of internal medicine, 2021-05, Vol.289 (5), p.675-687

2021

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7q11.23 Microduplication: a recognizable phenotype

Clinical genetics, 2013-02, Vol.83 (2), p.155-161

2013

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Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)

Clinical genetics, 2015-05, Vol.87 (5), p.461-466

2015

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Chromosome 1 Localization of a Gene for Autosomal Dominant Medullary Cystic Kidney Disease (ADMCKD)

Human molecular genetics, 1998-05, Vol.7 (5), p.905-911

1998

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A prenatally ascertained, maternally inherited 14.8Mb duplication of chromosomal bands Xq13.2–q21.31 associated with multiple congenital abnormalities in a male fetus

Gene, 2013-11, Vol.530 (1), p.138-142

2013

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A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus

Gene, 2013-11, Vol.530 (1), p.138-142

2013

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Prenatal diagnosis of a de novo partial trisomy 10p12.1-12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH

Prenatal diagnosis, 2008-08, Vol.28 (8), p.770-772

2008

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Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: Cytogenetic and molecular analysis

European journal of medical genetics, 2007-07, Vol.50 (4), p.291-300

2007

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Measurement of locus copy number by hybridisation with amplifiable probes

Nucleic acids research, 2000-01, Vol.28 (2), p.605

2000

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Complex chromosomal rearrangements

Genetic counseling, 2007, Vol.18 (1), p.57

Patsalis, P C

2007

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Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1

Human genetics, 1998-12, Vol.103 (6), p.709-717

1998

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10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

Cytogenetic and genome research, 2009-04, Vol.124 (1), p.102-105

2009

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Sites of Differential DNA Methylation between Placenta and Peripheral Blood: Molecular Markers for Noninvasive Prenatal Diagnosis of Aneuploidies

The American journal of pathology, 2009-05, Vol.174 (5), p.1609-1618

2009

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Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy

Clinical genetics, 1999-12, Vol.56 (6), p.441-446

1999

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Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay

European journal of human genetics : EJHG, 2001-07, Vol.9 (7), p.527-532

2001

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A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design

International journal of andrology, 2002-06, Vol.25 (3), p.153-158

2002

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Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients

Clinical genetics, 1998-04, Vol.53 (4), p.249-257

1998

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Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome

Clinical genetics, 1997-03, Vol.51 (3), p.184-190

1997

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Guidelines for molecular karyotyping in constitutional genetic diagnosis

European journal of human genetics : EJHG, 2007-11, Vol.15 (11), p.1105-1114

2007

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Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology

Genetic counseling, 1997, Vol.8 (1), p.1

1997

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Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene

Cytogenetics and cell genetics, 1996, Vol.75 (4), p.230

1996

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A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33

American journal of medical genetics, 2003-09, Vol.122A (1), p.46-50

2003

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SV40-mediated immortalization of human fibroblasts

Experimental gerontology, 1996, Vol.31 (1), p.303-310

1996

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FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population

Genetic epidemiology, 1998, Vol.15 (1), p.103-109

1998

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Effects of transmission of Y chromosome AZFc deletions

The Lancet (British edition), 2002-10, Vol.360 (9341), p.1222-1224

2002

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Abnormal thyroid function is common in takotsubo syndrome and depends on two distinct mechanisms: results of a multicentre observational study

7q11.23 Microduplication: a recognizable phenotype

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)

Chromosome 1 Localization of a Gene for Autosomal Dominant Medullary Cystic Kidney Disease (ADMCKD)

A prenatally ascertained, maternally inherited 14.8Mb duplication of chromosomal bands Xq13.2–q21.31 associated with multiple congenital abnormalities in a male fetus

A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus

Prenatal diagnosis of a de novo partial trisomy 10p12.1-12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH

Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: Cytogenetic and molecular analysis

Measurement of locus copy number by hybridisation with amplifiable probes

Complex chromosomal rearrangements

Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

Sites of Differential DNA Methylation between Placenta and Peripheral Blood: Molecular Markers for Noninvasive Prenatal Diagnosis of Aneuploidies

Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay

A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design

Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients

Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology

Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene

A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33

SV40-mediated immortalization of human fibroblasts

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population

Effects of transmission of Y chromosome AZFc deletions

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