Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation (original) (raw)

Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype

Hayrettin Tumani

Journal of Medical Genetics, 1999

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Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty

Claudia Ginsburg

The Journal of Pediatrics, 1999

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Paternal uniparental disomy of chromosome 14: Confirmation of a clinically-recognizable phenotype

Arthur Brothman

American Journal of Medical Genetics, 2004

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Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome

Yasuhisa Nomura

Journal of Obstetrics and Gynaecology Research, 2015

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Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype

Matthew Edwards

American Journal of Medical Genetics, 2004

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Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR

Karin Buiting, Alma Kuechler

American Journal of Medical Genetics Part A, 2006

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Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay

Philip Cotter

Journal of Medical Genetics

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Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster

Karin Buiting

Human Mutation, 2008

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Recombinant chromosome 14 due to maternal pericentric inversion

Vaidutis Kučinskas

Journal of Applied Genetics, 2008

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A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15

Giuseppe Novelli

ELECTROPHORESIS, 2008

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Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion

Genevieve Lefort

American Journal of Medical Genetics, 2002

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Tandem duplication of chromosome 14 (q24+q32) in male newborn with congenital malformations

Ksenija Ivanovic

Clinical Genetics, 2008

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Paternal UPD14 is responsible for a distinctive malformation complex

Hiroyuki Sasaki

American Journal of Medical Genetics, 2002

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Epigenetic detection of human chromosome 14 uniparental disomy

Philip Cotter

Human Mutation, 2003

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Maternally inherited duplication of the possible imprinted 14q31 region

Doriana De Petris

Journal of Medical Genetics, 2001

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Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion

L. Ozer

Molecular cytogenetics, 2015

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Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

yamamori shunji

Nature Genetics, 2008

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A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY

Orsetta Zuffardi

Clinical Genetics, 2001

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Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients

Knud Linnemann

Journal of Medical Genetics, 2001

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Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus

Koh-ichiro Yoshiura

American Journal of Medical Genetics, 2002

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Uniparental disomy resulting from heterozygous Robertsonian translocation (13q14q) in both parents

Mir Omrani

2007

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Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion

Henry Kurosawa

Journal of Human Genetics, 2005

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Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay

Orazio Palumbo

American Journal of Medical Genetics Part A, 2015

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Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype

Lília de Azevedo Moreira

Molecular Cytogenetics, 2014

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Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14

Reiner Schulz

American Journal of Medical Genetics Part A, 2010

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Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl

Isabelle Maystadt

Clinical Case Reports, 2016

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Prenatal diagnosis of partial tetrasomy 14: a case study

lavinia hallam

Prenatal Diagnosis, 2002

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Allele-Specific Replication of 15q11-Q13 Loci: a Diagnostic Test for Detection of Uniparental Disomy

Peter Rogan

American journal of …, 1996

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Paternal uniparental disomy 14: introducing the 'coat-hanger' sign

Amaka Offiah

Pediatric Radiology, 2003

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