Refined genotype–phenotype correlations in cases of chromosome 6p deletion syndromes

No abstract is available for this paper.

• Publication year

  2004

• Venue

  European Journal of Human Genetics

• Publication date

  2004-05-19

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/sj.ejhg.5201194PMID 15150541
• 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.

• Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment

  2003cited by this paper
• The 6p deletion syndrome: a new orofacial clefting syndrome and its implications for antenatal screening.

  2002cited by this paper
• The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice

  2001cited by this paper
• Two unbalanced translocations involving a common 6p25 region in two XY female patients

  2001cited by this paper
• Genetic, physical, and phenotypic characterization of the Del(13)Svea36H mouse

  2001cited by this paper
• Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

  2000cited by this paper
• Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

  2000cited by this paper
• Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene.

  1999cited by this paper
• An interstitial deletion of 6p24-p25 proximal to theFKHL7 locus and includingAP-2α that affects anterior eye chamber development.

  1999cited by this paper
• Delineation of two distinct 6p deletion syndromes

  1999cited by this paper
• Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles.

  1999cited by this paper
• The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.

  1998cited by this paper
• Mice lacking Bmp6 function.

  1998cited by this paper
• The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

  1998cited by this paper
• Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate.

  1997cited by this paper
• Neuritin: a gene induced by neural activity and neurotrophins that promotes neuritogenesis.

  1997cited by this paper
• Differential structuring of human populations for homologous X and Y microsatellite loci.

  1997cited by this paper
• A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome

  1996cited by this paper
• Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region.

  1995cited by this paper
• Multiple congenital anomalies in a man with (X;6) translocation.

  1994cited by this paper
• Sclerocornea and interstitial deletion of the short arm of chromosome 6--(46XY del[6] [p22 p24]).

  1992cited by this paper
• Gene dosage effects for coagulation factors XII (F12) and XIII subunit a (F13A) in a case with partial monosomy 6p resulting from a maternal pericentric inversion of chromosome 6

  1987cited by this paper

• Rare presentation of chromosome 6p anomaly: Puzzle resolved by conventional karyotyping

  2025cites this paper
• A familial case of interstitial deletion of the short arm of chromosome 6p22.3-p24.3 in twins with severe delay in psychomotor and speech development

  2025cites this paper
• Expanding the Phenotypic Spectrum of FOXC1-Related Axenfeld-Rieger Syndrome Type 3: A Case Report

  2025cites this paper
• Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

  2025cites this paper
• The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy

  2024cites this paper
• Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

  2023cites this paper
• Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features

  2023cites this paper
• Terminal deletion of the short arm of chromosome 6 (6P25.3P24.3): a literature review and case report of a Brazilian child

  2022influential citation
• The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

  2022influential citation
• Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature

  2021cites this paper
• Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search

  2021cites this paper
• Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes

  2020cites this paper
• More than meets the eye: Palmoplantar keratoderma and arrhythmogenic right ventricular cardiomyopathy in a patient with loss of the DSP gene

  2020cites this paper
• Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review

  2019cites this paper
• Genetic architecture of retinoic-acid signaling-associated ocular developmental defects

  2019cites this paper
• Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion

  2019cites this paper
• Disseminated adenovirus infection causing severe ARDS

  2017cites this paper
• A CNV Catalogue

  2017cites this paper
• Congenital radial head dislocation and low immunoglobulin M levels in 6p25.3 deletion.

  2017cites this paper
• The 6p25 deletion syndrome: An update on a rare neurocristopathy

  2017cites this paper
• Oculofacial Manifestations of Chromosomal Aberrations

  2017cites this paper
• Phenotype of a Belgian Family With 6p25 Deletion Syndrome

  2016cites this paper
• Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations.

  2015cites this paper
• A VARIANT CASE OF 6p24 DELETION SYNDROME (OMIM #612582).

  2015cites this paper
• Ophthalmological Findings in 6p Deletion Syndrome

  2015cites this paper
• THE GENETIC CAUSES OF CHEST WALL MALFORMATIONS

  2015cites this paper
• 22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization

  2015cites this paper
• Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family

  2015influential citation
• Hypereosinophilic syndrome and hemimelia in a patient with chromosome 6p22.3 deletion

  2014cites this paper
• Analysis of TFAP 2 A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2 a DNA-binding domain

  2013cites this paper
• A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene.

  2013cites this paper
• Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3

  2013cites this paper
• Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report

  2013cites this paper
• A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome

  2013cites this paper
• Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.

  2013cites this paper
• 6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.

  2013cites this paper
• A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

  2013cites this paper
• Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

  2012cites this paper
• PITX2 and FOXC1 spectrum of mutations in ocular syndromes

  2012cites this paper
• Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

  2012cites this paper
• Pre‐ and postnatal phenotype of 6p25 deletions involving the FOXC1 gene

  2012cites this paper
• Chromosome 6p25 Deletion Syndrome: Report of a case with optic disc coloboma and review of published ophthalmic findings

  2012cites this paper
• Identification and characterization of disease-related copy number variations (CNVs) by high-dense SNP oligonucleotide microarrays

  2012cites this paper
• Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication

  2012cites this paper
• Chromosome abnormalities and the genetics of congenital corneal opacification

  2011cites this paper
• Novel retrotransposed imprinted locus identified at human 6p25

  2011cites this paper
• Unbalanced translocation 6p/16q (partial monosomy 6p and trisomy 16q): prenatal diagnosis and cytogenetics.

  2010cites this paper
• A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys.

  2009cites this paper
• Mapping and phenotyping genes in the Del(13)Svea36H region of mouse chromosome 13

  2009influential citation
• Interstitial deletion 6p22.3‐p24.3 characterized by CGH array in a foetus with multiple malformations

  2009cites this paper
• Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies

  2009cites this paper
• Thyroid-Stimulating Hormone and Free Thyroxine Levels in Persons with HFE C282Y Homozygosity, a Common Hemochromatosis Genotype: The HEIRS Study

  2008cites this paper
• Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype

  2008cites this paper
• Chromosomal map of human brain malformations

  2008influential citation
• Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients

  2008cites this paper
• VEGF C−634G polymorphism is associated with protection from isolated ventricular septal defect: case–control and TDT studies

  2007cites this paper
• Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report.

  2007cites this paper
• QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

  2007cites this paper
• Schizophrenia in an adult with 6p25 deletion syndrome

  2006cites this paper
• Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome

  2006cites this paper
• Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher–Schinzel (3C) syndrome

  2005cites this paper
• Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen.

  2005cites this paper
• Case report: Y;6 translocation with deletion of 6p

  2005influential citation
• Terminal deletion of 6p results in a recognizable phenotype

  2005cites this paper
• Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1

  2005cites this paper
• Review of “Protein Microarrays” Edited by Mark Schena

  2005cites this paper
• Subtelomeric 6 p 25 deletion / duplication : Report of a patient with new clinical fi ndings and genotype e phenotype correlations

  year unknowninfluential citation