Published in Am J Med Genet A on September 09, 2011
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. J Med Genet (2012) 1.04
Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction. J Med Genet (2012) 0.84
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C. J Hum Genet (2014) 0.82
Primordial dwarfism: overview of clinical and genetic aspects. Mol Genet Genomics (2015) 0.78
Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome. PLoS Genet (2016) 0.77
An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease. Genome Med (2012) 0.76
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. Mol Syndromol (2016) 0.75
Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes. Mol Syndromol (2015) 0.75
Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes. Clin Epigenetics (2016) 0.75
A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome. Eur J Hum Genet (2016) 0.75
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
WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn (2010) 1.91
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
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
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
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
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
RYK is not mutated in autosomal dominant Robinow syndrome. J Biol Chem (2013) 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
Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? Am J Med Genet A (2004) 0.85
Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. Am J Med Genet A (2004) 0.85
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Med Genet (2013) 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
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population. Am J Med Genet A (2012) 0.82
Dermal melanocytosis associated with GM1-gangliosidosis type 1. Acta Derm Venereol (2006) 0.82
Cockayne syndrome type A: novel mutations in eight typical patients. J Hum Genet (2006) 0.82
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test (2006) 0.82
Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype. Cytogenet Genome Res (2016) 0.82
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
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. Am J Med Genet A (2007) 0.81
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
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis. Rev Hosp Clin Fac Med Sao Paulo (2004) 0.81
Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes. PLoS One (2013) 0.81
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
Molecular and clinical delineation of the 17q22 microdeletion phenotype. Eur J Hum Genet (2013) 0.80
Omodysplasia: the first reported Brazilian case. Clinics (Sao Paulo) (2007) 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
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. Am J Med Genet A (2012) 0.80
The fragile x-associated tremor and ataxia syndrome (FXTAS). Arq Neuropsiquiatr (2010) 0.80
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
Nephrogenic diabetes insipidus (NDI): clinical, laboratory and genetic characterization of five Brazilian patients. Clinics (Sao Paulo) (2009) 0.79
Ring chromosome 10: report on two patients and review of the literature. J Appl Genet (2012) 0.78
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
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
[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome]. Arq Bras Endocrinol Metabol (2011) 0.77
The ratio of maternal to paternal UPD associated with recessive diseases. Hum Genet (2005) 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
Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation. Am J Med Genet A (2013) 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
Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities. Clin Dysmorphol (2009) 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
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
A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease. Pediatr Neurol (2013) 0.75
Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16). Arq Bras Endocrinol Metabol (2012) 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
The effects of oxybutynin on urinary symptoms in children with Williams-Beuren syndrome. J Urol (2012) 0.75
Concurrent Loss of Heterozygosity and Mosaic Deletion of 12p13.32pter. 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
Spondylocostal dysostosis associated with methylmalonic aciduria. Genet Test Mol Biomarkers (2009) 0.75