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Complex and segmental uniparental disomy updated

Journal of medical genetics, 2008-09, Vol.45 (9), p.545-556

Kotzot, D

2008

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Prenatal testing for uniparental disomy: indications and clinical relevance

Ultrasound in obstetrics & gynecology, 2008-01, Vol.31 (1), p.100-105

Kotzot, D.

2008

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Chromosomal Variants in Klinefelter Syndrome

Sexual development, 2011-01, Vol.5 (3), p.109-123

2011

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Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile

Journal of medical genetics, 2010-05, Vol.47 (5), p.312-320

2010

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ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

Cell death and differentiation, 2016-12, Vol.23 (12), p.1973-1984

2016

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Sustained response to brigatinib in a patient with refractory metastatic pheochromocytoma harboring R1192P anaplastic lymphoma kinase mutation: a case report from the Austrian Group Medical Tumor Therapy next-generation sequencing registry and discussion of the literature

ESMO open, 2021-08, Vol.6 (4), p.100233-100233, Article 100233

2021

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Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

Clinical genetics, 2014-10, Vol.86 (4), p.361-366

2014

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Gonosomale Mosaike

Medizinische Genetik, 2014-11, Vol.26 (3), p.309-314

2014

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Modification of risk for cancer as a coincidental finding in DNA array investigation

Clinical genetics, 2013-03, Vol.83 (3), p.284-287

2013

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Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Journal of medical genetics, 2006-05, Vol.43 (5), p.e22-e22

2006

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Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region

Clinical genetics, 2001-09, Vol.60 (3), p.226-231

Kotzot, D

2001

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Whole Genome Amplification from Microdissected Chromosomes

Cytogenetic and genome research, 2009-01, Vol.125 (2), p.98-102

2009

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Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

Cytogenetic and genome research, 2012-06, Vol.136 (4), p.242-245

2012

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Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis

Clinical genetics, 2010-12, Vol.78 (6), p.548-553

2010

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Hyperaminoaciduria and resolving phosphaturia in a family with autosomal dominant hypophosphataemic rickets (ADHR) due to a mutation in the FGF23 gene

Bone (New York, N.Y.), 2009-07, Vol.45, p.S93-S94

2009

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Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated

American journal of medical genetics. Part A, 2005-07, Vol.136A (3), p.287-305

2005

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Uniparentale Disomien: Entstehungsmechanismen und ihre Bedeutung für die klinische Genetik

Medizinische Genetik, 2010-12, Vol.22 (4), p.439-451

2010

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Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?

Journal of medical genetics, 2002-10, Vol.39 (10), p.775-778

Kotzot, D

2002

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Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation

European journal of human genetics : EJHG, 2004-05, Vol.12 (5), p.343-346

KOTZOT, Dieter

2004

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Maternal uniparental disomy 7 : review and further delineation of the phenotype

European journal of pediatrics, 2000-04, Vol.159 (4), p.247-256

2000

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Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child

Journal of medical genetics, 2001-12, Vol.38 (12), p.885-888

2001

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Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation

Clinical kidney journal, 2013-04, Vol.6 (2), p.211-215

2013

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Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11→q11:)/46,XX karyotype

Journal of medical genetics, 2002-07, Vol.39 (7), p.519-521

2002

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Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46, XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome

European journal of human genetics : EJHG, 2000-09, Vol.8 (9), p.709-712

2000

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Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

Journal of medical genetics, 2000-04, Vol.37 (4), p.281-286

2000

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Complex and segmental uniparental disomy updated

Prenatal testing for uniparental disomy: indications and clinical relevance

Chromosomal Variants in Klinefelter Syndrome

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

Sustained response to brigatinib in a patient with refractory metastatic pheochromocytoma harboring R1192P anaplastic lymphoma kinase mutation: a case report from the Austrian Group Medical Tumor Therapy next-generation sequencing registry and discussion of the literature

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

Gonosomale Mosaike

Modification of risk for cancer as a coincidental finding in DNA array investigation

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region

Whole Genome Amplification from Microdissected Chromosomes

Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis

Hyperaminoaciduria and resolving phosphaturia in a family with autosomal dominant hypophosphataemic rickets (ADHR) due to a mutation in the FGF23 gene

Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated

Uniparentale Disomien: Entstehungsmechanismen und ihre Bedeutung für die klinische Genetik

Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?

Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation

Maternal uniparental disomy 7 : review and further delineation of the phenotype

Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child

Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation

Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11→q11:)/46,XX karyotype

Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46, XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

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