Published in BMC Med Genet on May 07, 2013
Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences. Hum Genet (2014) 0.91
Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter. Chromosome Res (2013) 0.85
Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs. PLoS One (2014) 0.82
SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements. Nucleus (2017) 0.79
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. Eur J Hum Genet (2014) 0.78
Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative). Sci Rep (2015) 0.77
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. Mol Cell Endocrinol (2014) 0.77
Phenotypic subregions within the split-hand/foot malformation 1 locus. Hum Genet (2016) 0.77
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia. Mol Genet Genomic Med (2017) 0.75
The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6. Genes Dev (2002) 8.19
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell (1994) 7.39
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30
Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature (2008) 3.44
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
A clinical and genetic study of campomelic dysplasia. J Med Genet (1995) 2.20
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet (2005) 1.87
Autosomal XX sex reversal caused by duplication of SOX9. Am J Med Genet (1999) 1.87
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet (2009) 1.75
XX males SRY negative: a confirmed cause of infertility. J Med Genet (2011) 1.75
Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern. Dev Biol (2006) 1.68
Long-range regulation at the SOX9 locus in development and disease. J Med Genet (2009) 1.62
A SOX9 duplication and familial 46,XX developmental testicular disorder. N Engl J Med (2011) 1.51
Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. Proc Natl Acad Sci U S A (1998) 1.51
Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. Am J Hum Genet (1999) 1.47
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. Hum Genet (1996) 1.43
Pierre Robin sequence: a series of 117 consecutive cases. J Pediatr (2001) 1.41
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet (2011) 1.34
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nat Genet (1993) 1.33
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One (2011) 1.32
Understanding the role of SOX9 in acquired diseases: lessons from development. Trends Mol Med (2011) 1.14
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. J Med Genet (1992) 1.11
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing. Genome Res (2011) 1.10
Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal. J Med Genet (2004) 1.08
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet (2007) 1.07
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. Am J Hum Genet (2005) 1.05
Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal. Hum Mol Genet (1996) 1.03
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. Am J Med Genet A (2009) 1.01
Acampomelic campomelic syndrome. Am J Med Genet (2001) 0.93
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. Sex Dev (2010) 0.87
Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula. Am J Med Genet A (2012) 0.84
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. Am J Med Genet A (2010) 0.82
Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation. Am J Med Genet (1995) 0.82
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat (2007) 3.52
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res (2008) 1.81
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Clin Endocrinol (Oxf) (2007) 1.67
A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr Suppl (2007) 1.49
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A (2007) 1.31
Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Res (2012) 1.24
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A (2005) 1.19
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Am J Hum Genet (2006) 1.14
Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young (2010) 1.10
Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC Med Genet (2011) 1.08
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Mol Cell (2013) 1.06
A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil. Arthritis Rheum (2011) 1.04
Further evidence of the importance of RIT1 in Noonan syndrome. Am J Med Genet A (2014) 1.03
Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia. Am J Med Genet A (2010) 1.02
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome. Am J Med Genet A (2011) 1.00
Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet A (2006) 1.00
Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9. Am J Med Genet A (2003) 0.99
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements. Hum Genet (2009) 0.98
Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries. BMC Res Notes (2012) 0.96
Waardenburg syndrome: clinical differentiation between types I and II. Am J Med Genet A (2003) 0.96
A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity. Eur J Med Genet (2006) 0.94
Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. Eur J Med Genet (2006) 0.90
PENCALC: A program for penetrance estimation in autosomal dominant diseases. Genet Mol Biol (2010) 0.90
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy. PLoS One (2012) 0.89
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Am J Med Genet A (2005) 0.89
Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. Am J Med Genet A (2007) 0.88
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? Am J Med Genet A (2009) 0.88
A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation. Am J Med Genet A (2010) 0.87
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI. Mol Genet Metab (2013) 0.87
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. Hum Genet (2008) 0.86
Structure and chromosomal localization of the gene for crotamine, a toxin from the South American rattlesnake, Crotalus durissus terrificus. Toxicon (2003) 0.85
Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients. J Mol Neurosci (2004) 0.85
Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. Am J Med Genet A (2004) 0.85
Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? Am J Med Genet A (2004) 0.85
Crotamine is a novel cell-penetrating protein from the venom of rattlesnake Crotalus durissus terrificus. FASEB J (2004) 0.84
An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. Am J Med Genet A (2007) 0.84
Cockayne syndrome type A: novel mutations in eight typical patients. J Hum Genet (2006) 0.82
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population. Am J Med Genet A (2012) 0.82
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test (2006) 0.82
Dermal melanocytosis associated with GM1-gangliosidosis type 1. Acta Derm Venereol (2006) 0.82
Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype. Cytogenet Genome Res (2016) 0.82
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. Clin Dysmorphol (2007) 0.81
Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies. Am J Med Genet A (2011) 0.81
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. Am J Med Genet A (2004) 0.81
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis. Rev Hosp Clin Fac Med Sao Paulo (2004) 0.81
Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders. Genet Mol Biol (2010) 0.81
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. Am J Med Genet A (2007) 0.81
Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes. PLoS One (2013) 0.81
Omodysplasia: the first reported Brazilian case. Clinics (Sao Paulo) (2007) 0.80
Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat. Mov Disord (2007) 0.80
Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations. Am J Med Genet (2002) 0.80
The fragile x-associated tremor and ataxia syndrome (FXTAS). Arq Neuropsiquiatr (2010) 0.80
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate. Eur J Med Genet (2013) 0.80
Molecular and clinical delineation of the 17q22 microdeletion phenotype. Eur J Hum Genet (2013) 0.80
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. Am J Med Genet A (2012) 0.80
Polymorphic Alu insertions in six Brazilian African-derived populations. Am J Hum Biol (2004) 0.79
Hematological findings in Noonan syndrome. Rev Hosp Clin Fac Med Sao Paulo (2003) 0.79
Williams-Beuren syndrome: diagnosis by polymorphic markers. Genet Test Mol Biomarkers (2010) 0.79
Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease? J Mol Neurosci (2005) 0.78
Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia. J Mol Neurosci (2004) 0.78
The ratio of maternal to paternal UPD associated with recessive diseases. Hum Genet (2005) 0.77
[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome]. Arq Bras Endocrinol Metabol (2011) 0.77
AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations. Am J Med Genet A (2005) 0.77
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. Am J Med Genet A (2010) 0.77
Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males: proposal for a new screening tool. J Intellect Disabil (2009) 0.77
Conservation of chromosomal location of nucleolus organizer in American marsupials (Didelphidae). Genetica (2003) 0.77
Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications. Am J Med Genet (2002) 0.76
Single-nucleotide polymorphism array-based characterization of ring chromosome 18. J Pediatr (2013) 0.76
Infantile autism and 47,XYY karyotype. Arq Neuropsiquiatr (2009) 0.76
Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation. Am J Med Genet A (2013) 0.76
Developmental changes in the ploidy of mouse implanting trophoblast cells in vitro. Histochem Cell Biol (2003) 0.76
Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra. BMC Evol Biol (2012) 0.75
A note on the population genetic consequences of delayed larval development in insects. Genet Mol Biol (2013) 0.75
Brazilian population data on the polymerase chain reaction-based loci LDLR, GYPA, HBGG, D7S8, and Gc. Am J Forensic Med Pathol (2003) 0.75
Spondylocostal dysostosis associated with methylmalonic aciduria. Genet Test Mol Biomarkers (2009) 0.75
Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability. Cytogenet Genome Res (2016) 0.75
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up. Am J Med Genet A (2015) 0.75
Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects. Clin Chim Acta (2002) 0.75
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis. Am J Med Genet A (2012) 0.75
Estimation of inbreeding and substructure levels in African-derived Brazilian quilombo populations. Hum Biol (2014) 0.75
A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease. Pediatr Neurol (2013) 0.75
Population genetics of nine short tandem repeat loci: allele frequency distribution in a Brazilian population sample. Am J Forensic Med Pathol (2002) 0.75
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects. Am J Med Genet A (2008) 0.75
The effects of oxybutynin on urinary symptoms in children with Williams-Beuren syndrome. J Urol (2012) 0.75