Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Journal of Medical Genetics

• Publication date

  2001-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.38.9.591PMID 11546827PMCID PMC1734929
• 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.

• The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism

  2004cited by this paper
• Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain

  2000cited by this paper
• The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

  2000cited by this paper
• The Turner syndrome-associated neurocognitive phenotype maps to distal Xp.

  2000cited by this paper
• Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features

  2000cited by this paper
• The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

  2000cited by this paper
• Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

  2000cited by this paper
• Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.

  1999cited by this paper
• Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome

  1999cited by this paper
• A first-generation X-inactivation profile of the human X chromosome.

  1999cited by this paper
• The critical region of overlap defining theAZFa male infertility interval of proximal Yq contains three transcribed sequences

  1999cited by this paper
• Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

  1998cited by this paper
• Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

  1998cited by this paper
• Vascular endothelial growth factor D (VEGF-D) is a ligand for the tyrosine kinases VEGF receptor 2 (Flk1) and VEGF receptor 3 (Flt4).

  1998cited by this paper
• Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

  1998cited by this paper
• SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

  1998cited by this paper
• A study of females with deletions of the short arm of the X chromosome

  1998cited by this paper
• Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

  1997cited by this paper
• Functional coherence of the human Y chromosome.

  1997cited by this paper
• PHOG, a candidate gene for involvement in the short stature of Turner syndrome.

  1997cited by this paper
• Del (X)(p21.2) in a mother and two daughters with variable ovarian function

  1997cited by this paper
• Smith's Recognizable Patterns of Human Malformation

  1996cited by this paper
• The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2.

  1996cited by this paper
• Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata

  1996cited by this paper
• Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

  1995cited by this paper
• Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata.

  1995cited by this paper
• A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin.

  1994cited by this paper
• Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

  1993cited by this paper
• The human Y chromosome: a 43-interval map based on naturally occurring deletions.

  1992cited by this paper
• Deletion of the short arm of the X chromosome: A hereditary form of Turner syndrome

  1992cited by this paper
• Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease.

  1984cited by this paper
• A SYNDROME OF INFANTILISM, CONGENITAL WEBBED NECK, AND CUBITUS VALGUS1

  1938cited by this paper

• Complex rearrangements of Y chromosome suggest RPS4Y1 as lymphedema candidate gene.

  2022cites this paper
• Primary lymphoedema

  2021cites this paper
• Molecular Mechanisms of Distinct Diseases

  2020cites this paper
• Association between cardiovascular anomalies and karyotypes in Turner syndrome patients in Taiwan: A local cohort study.

  2020cites this paper
• Dermatologic Conditions in Turner Syndrome

  2020cites this paper
• The G protein-coupled receptor GPR34 - The past 20 years of a grownup.

  2018cites this paper
• Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies

  2018cites this paper
• A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis

  2018cites this paper
• Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening

  2017influential citation
• The Turner syndrome life course project: Karyotype‐phenotype analyses across the lifespan

  2017cites this paper
• Turner syndrome caused by rare complex structural abnormalities involving chromosome X.

  2017cites this paper
• DESCRIBING LYMPHEDEMA IN FEMALES WITH TURNER SYNDROME.

  2015cites this paper
• Syndrome de Turner

  2015cites this paper
• Vascular endothelial growth factor (VEGF) levels in short, GH treated children: a distinct pattern of VEGF-C in Noonan syndrome

  2015cites this paper
• The lymphatic phenotype in Turner Syndrome: an evaluation of nineteen patients and literature review

  2015cites this paper
• Novel Loci for Non-Syndromic Coarctation of the Aorta in Sporadic and Familial Cases

  2015cites this paper
• Genetics of Hemangiomas, Vascular Malformations, and Primary Lymphedema

  2014cites this paper
• Turner Syndrome: Pathophysiology, Diagnosis and Treatment

  2014cites this paper
• Management of Turner syndrome in adult life and beyond.

  2014cites this paper
• A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation

  2014cites this paper
• Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome

  2013cites this paper
• Clinical and cytogenetic study of a non mosaic 46, X, isodicentric Yq in an Egyptian patient with Turner syndrome.

  2013cites this paper
• Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development

  2013cites this paper
• Dentofacial morphology in Turner syndrome karyotypes.

  2012cites this paper
• Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology.

  2012cites this paper
• Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta.

  2012influential citation
• Disorders of Lymphatics

  2011cites this paper
• Left-sided partial anomalous pulmonary venous communication in a patient with Turner's syndrome.

  2011cites this paper
• CARACTERIZACIÓN DE LAS ALTERACIONES EN LA FUNCION RENAL, LA PRESION ARTERIAL Y LAS MALFORMACIONES ANATÓMICAS RENALES- URINARIAS Y CARDIOVASCULARES EN PACIENTES CON SINDROME DE TURNER EN LA FUNDACION CARDIOINFANTIL ENTRE 1999 Y 2009

  2011cites this paper
• Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF).

  2010cites this paper
• Altered Immune Response in Mice Deficient for the G Protein-coupled Receptor GPR34*

  2010cites this paper
• Lymphatic Dysfunction, Not Aplasia, Underlies Milroy Disease

  2010cites this paper
• Management of cardiovascular disease in Turner syndrome

  2009cites this paper
• Syndrome de Turner: Corrélations entre phénotypes et défauts cytogénétiques du chromosome X

  2009cites this paper
• Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature

  2009cites this paper
• Turner's Syndrome

  2009cites this paper
• Linfangiogênese e genética dos linfedemas: revisão da literatura

  2008cites this paper
• Cardiovascular abnormalities in Turner's syndrome: what prevention?

  2008cites this paper
• infancy to adult transfer Optimising management in Turner syndrome: from

  2007cites this paper
• Le syndrome de Turner

  2007cites this paper
• Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.

  2007cites this paper
• Le syndrome de Turner Turner syndrome

  2007cites this paper
• [Turner syndrome].

  2007cites this paper
• Genomic and supragenomic structure of the nucleotide-like G-protein-coupled receptor GPR34.

  2006cites this paper
• Recombinant X chromosome in a prenatal diagnosis

  2006cites this paper
• Optimising management in Turner syndrome: from infancy to adult transfer

  2006cites this paper
• Association Between Fetal Lymphedema and Congenital Cardiovascular Defects in Turner Syndrome

  2005cites this paper
• A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions

  2005influential citation
• Asociación entre el linfedema fetal y los defectos cardiovasculares congénitos en el síndrome de Turner

  2005cites this paper
• Turner Syndrome: An Update

  2005cites this paper
• Cardiovascular anomalies in children and young adults with Ullrich‐Turner syndrome—the erlangen experience

  2005cites this paper
• Sex Chromosomes and Sex Chromosome Abnormalities

  2005cites this paper
• Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

  2003cites this paper
• Syndromic Lymphedema: Keys to the Kingdom of Lymphatic Structure and Function?

  2003cites this paper
• Investigação clínica e genética em meninas com baixa estatura idiopática

  2003cites this paper
• Turner's syndrome

  2001cites this paper
• Turner's syndrome.

  1996cites this paper
• medical progress Turner ’ s Syndrome

  year unknowncites this paper
• A CRISPR/Cas9-generated zebrafish mutant implicates PPP2R3B loss in idiopathic scoliosis pathogenesis in Turner syndrome

  year unknowncites this paper