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

No abstract is available for this paper.

• Publication year

  2005

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2005-07-30

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ajmg.a.30483PMID 15957160
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• INVITED EDITORIAL The Second National Research Council Report on Forensic DNA Evidence

  2007cited by this paper
• Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa

  2005cited by this paper
• Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays.

  2005cited by this paper
• Maternal uniparental disomy chromosome 14: case report and literature review.

  2005cited by this paper
• Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver–Russell syndrome patient using methylation‐specific PCR assays

  2005cited by this paper
• Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene

  2004cited by this paper
• Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies

  2004cited by this paper
• Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations

  2004cited by this paper
• Maternal UPD(14) in the patient with a normal karyotype: Clinical report and a systematic search for cases in samples sent for testing for Prader–Willi syndrome

  2004influential reference
• Prader-Willi syndrome: advances in genetics, pathophysiology and treatment.

  2004cited by this paper
• Russell-Silver syndrome: molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping.

  2004cited by this paper
• Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1.

  2004cited by this paper
• Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey

  2004cited by this paper
• Paternal uniparental disomy of chromosome 14: Confirmation of a clinically‐recognizable phenotype

  2004cited by this paper
• Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype

  2004cited by this paper
• Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion

  2004cited by this paper
• Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases.

  2004cited by this paper
• Paternal uniparental disomy 14: introducing the 'coat-hanger' sign

  2003cited by this paper
• Angelman syndrome: a review of the clinical and genetic aspects

  2003cited by this paper
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  2003cited by this paper
• A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34

  2003cited by this paper
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  2003cited by this paper
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  2003cited by this paper
• Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formation

  2003cited by this paper
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  2003cited by this paper
• Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin

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• Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate

  2002influential reference
• Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region.

  2002cited by this paper
• Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.

  2002cited by this paper
• Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.

  2002cited by this paper
• Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.

  2002cited by this paper
• [Transient neonatal diabetes associated with uniparental isodisomy of chromosome 6].

  2002cited by this paper
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  2002cited by this paper
• Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

  2002cited by this paper
• Transient neonatal diabetes, a disorder of imprinting

  2002cited by this paper
• Paternal UPD14 is responsible for a distinctive malformation complex.

  2002cited by this paper
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  2002cited by this paper
• Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

  2002cited by this paper
• Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

  2002cited by this paper
• Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.

  2002cited by this paper
• Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11→q11:)/46,XX karyotype

  2002cited by this paper
• Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?

  2002cited by this paper
• Maternal uniparental disomy for chromosome 14 with diabetes mellitus.

  2002cited by this paper
• Diabetes mellitus neonatal transitoria asociada a isodisomía uniparental del cromosoma 6

  2002cited by this paper
• Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus

  2002cited by this paper
• Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous α‐subunit mutations

  2002cited by this paper
• The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements

  2002cited by this paper
• Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

  2002cited by this paper
• Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis

  2002cited by this paper
• Central Precocious Puberty in a Girl with Triple X Syndrome and Neonatal Diabetes Mellitus Associated with Paternal Isodisomy of Chromosome 6

  2001cited by this paper
• Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.

  2001cited by this paper
• Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1.

  2001cited by this paper
• Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements

  2001cited by this paper
• Origin of uniparental disomy 6: presentation of a new case and review on the literature.

  2001cited by this paper
• Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction

  2001cited by this paper
• Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients

  2001cited by this paper
• Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

  2001cited by this paper
• Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy

  2001cited by this paper
• Transient Neonatal Diabetes Mellitus in a Child with Paternal Uniparental Disomy of Chromosome 6

  2001cited by this paper
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  2001cited by this paper
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  2001cited by this paper
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  2001cited by this paper
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  2001cited by this paper
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  2001influential reference
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  2001cited by this paper
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  2001cited by this paper
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  2001cited by this paper
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  2001cited by this paper
• No evidence for mosaicism in Silver-Russell syndrome

  2001cited by this paper
• Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.

  2001cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  2000influential reference
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  2000cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  2000cited by this paper
• Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

  2000cited by this paper
• Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up

  2000influential reference
• Refinement of the 6q chromosomal region implicated in transient neonatal diabetes.

  2000cited by this paper
• Rapid detection of microdeletions using fluorescence in situ hybridisation (FISH) on buccal smears

  2000cited by this paper
• Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6

  2000cited by this paper
• The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.

  2000cited by this paper
• Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

  2000cited by this paper
• Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity.

  2000cited by this paper
• Maternal uniparental disomy of chromosome 16 and body stalk anomaly.

  2000influential reference
• Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature.

  2000cited by this paper
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  2000cited by this paper

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• Coexistence of mosaic marker chromosome and isodisomy 1 in reproductive failure: A cytogenomic case report and review of the literature.

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• Detection of Germline Mosaicism for Robertsonian Translocation 14;14: A Case Report

  2024cites this paper
• Advanced phasing techniques in congenital skin diseases

  2024cites this paper
• Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)

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  2023cites this paper
• Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 side-chain cleavage enzyme gene (CYP11A1) in a 46,XX Korean girl

  2023cites this paper
• Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status

  2022cites this paper
• Genetic variation in placental insufficiency: What have we learned over time?

  2022cites this paper
• Preimplantation chromosomal mosaics, chimaeras and confined placental mosaicism

  2022cites this paper
• Prenatal diagnosis and genetic counseling of uniparental disomy.

  2022cites this paper
• Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler–Najjar syndrome type I and long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

  2022cites this paper
• Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome

  2022cites this paper
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• Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype

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  2020cites this paper
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  2020cites this paper
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• Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes

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  2015cites this paper
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