Published in Hum Mutat on November 01, 2006
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. Eur J Hum Genet (2010) 0.79
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
The germinal center/activated B-cell subclassification has a prognostic impact for response to salvage therapy in relapsed/refractory diffuse large B-cell lymphoma: a bio-CORAL study. J Clin Oncol (2011) 2.38
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet (2007) 1.89
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet (2007) 1.85
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet (2012) 1.79
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet (2012) 1.71
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
Human atrial ion channel and transporter subunit gene-expression remodeling associated with valvular heart disease and atrial fibrillation. Circulation (2005) 1.67
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
The phenotype of Floating-Harbor syndrome in 10 patients. Am J Med Genet A (2010) 1.56
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am J Hum Genet (2003) 1.52
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet (2006) 1.50
Friedreich ataxia: the oxidative stress paradox. Hum Mol Genet (2004) 1.49
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation. Arch Dermatol (2011) 1.46
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet (2008) 1.45
Overexpression of heme oxygenase-1 in murine melanoma: increased proliferation and viability of tumor cells, decreased survival of mice. Am J Pathol (2006) 1.44
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Blood (2011) 1.37
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol (2007) 1.34
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet (2008) 1.34
Pathogen DNA as target for host-generated oxidative stress: role for repair of bacterial DNA damage in Helicobacter pylori colonization. Proc Natl Acad Sci U S A (2003) 1.33
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet (2012) 1.32
Characterization of the expression of the hypoxia-induced genes neuritin, TXNIP and IGFBP3 in cancer. FEBS Lett (2006) 1.30
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res (2013) 1.27
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat (2011) 1.26
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A (2006) 1.25
C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet (2013) 1.24
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genet A (2011) 1.24
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat (2005) 1.23
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet (2009) 1.23
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A (2012) 1.21
Gene expression profile associated with chronic atrial fibrillation and underlying valvular heart disease in man. J Mol Cell Cardiol (2005) 1.20
Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. Eur J Med Genet (2008) 1.19
Genetic and transmission analysis of Helicobacter pylori strains within a family. Emerg Infect Dis (2004) 1.18
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am J Med Genet (2002) 1.17
Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A (2005) 1.17
Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet A (2008) 1.16
Contrasting gene expression profiles in two canine models of atrial fibrillation. Circ Res (2007) 1.16
Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. J Invest Dermatol (2003) 1.16
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat (2008) 1.14
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet (2004) 1.13
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. Hum Mol Genet (2010) 1.11
Prevalence of mutations in AGPAT2 among human lipodystrophies. Diabetes (2003) 1.11
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr (2003) 1.11
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nat Genet (2007) 1.11
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. Eur J Hum Genet (2007) 1.10
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. Eur J Med Genet (2011) 1.09
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat (2013) 1.09
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia (2011) 1.09
Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol (2011) 1.09
Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome. Arch Cardiovasc Dis (2010) 1.08
Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy. Pediatrics (2007) 1.08
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. Eur J Hum Genet (2007) 1.07
Genetically determined differences in sodium current characteristics modulate conduction disease severity in mice with cardiac sodium channelopathy. Circ Res (2009) 1.06
Perrault syndrome: report of four new cases, review and exclusion of candidate genes. Am J Med Genet A (2008) 1.04
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation. Eur J Hum Genet (2005) 1.04
Four-year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol Vis Sci (2011) 1.03
Immunosuppressive drug-free operational immune tolerance in human kidney transplant recipients: Part I. Blood gene expression statistical analysis. J Cell Biochem (2008) 1.03
Limb body wall complex and amniotic band sequence in sibs. Am J Med Genet A (2007) 1.03
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat (2011) 1.03
Prenatal diagnosis using array-CGH: a French experience. Eur J Med Genet (2013) 1.02
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat (2007) 1.01
LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. Joint Bone Spine (2005) 1.01
Profiling candidate genes involved in wax biosynthesis in Arabidopsis thaliana by microarray analysis. Biochim Biophys Acta (2005) 1.01
Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. Hum Mutat (2004) 1.00
Regulation of intestinal epithelial cells transcriptome by enteric glial cells: impact on intestinal epithelial barrier functions. BMC Genomics (2009) 0.99
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. Eur J Endocrinol (2010) 0.98
Costello syndrome and neurological abnormalities. Am J Med Genet A (2003) 0.98
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. Eur J Med Genet (2013) 0.97
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. Eur J Hum Genet (2012) 0.97
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis (2012) 0.97
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. J Med Genet (2012) 0.96
Receptor activator of nuclear factor-kappaB ligand (RANKL) directly modulates the gene expression profile of RANK-positive Saos-2 human osteosarcoma cells. Oncol Rep (2007) 0.96
Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. Am J Med Genet A (2010) 0.96
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. Pigment Cell Melanoma Res (2008) 0.95
Donnai-Barrow syndrome: four additional patients. Am J Med Genet A (2003) 0.95