Clinical utility gene card for: Rothmund-Thomson syndrome.

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype. Eur J Hum Genet (2014) 0.89

CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP). Eur J Hum Genet (2015) 0.80

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Mol Genet Genomic Med (2016) 0.75

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings. JAAD Case Rep (2017) 0.75

Rothmund-Thomson syndrome. Orphanet J Rare Dis (2010) 2.49

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet (2001) 2.19

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst (2003) 1.83

RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. Am J Med Genet A (2003) 1.65

The mutation spectrum in RECQL4 diseases. Eur J Hum Genet (2008) 1.61

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet (2002) 1.52

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer Lett (2005) 1.16

RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress. J Cell Sci (2012) 1.15

Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. Hum Genet (2008) 1.15

Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome. Int J Cancer (1998) 1.10

Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. AJR Am J Roentgenol (2008) 1.10

Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome. J Clin Oncol (2007) 1.03

An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome. Mutat Res (2002) 0.98

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes. Eur J Pediatr (2007) 0.97

Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. J Dermatol (2008) 0.92

A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. Arch Dermatol (2005) 0.86

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52

Rothmund-Thomson syndrome. Orphanet J Rare Dis (2010) 2.49

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44

WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet (2010) 2.40

CHARGE syndrome: an update. Eur J Hum Genet (2007) 2.03

Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord (2005) 2.03

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet (2007) 2.02

Elements of morphology: standard terminology for the lips, mouth, and oral region. Am J Med Genet A (2009) 1.96

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet (2004) 1.94

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

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet (2013) 1.87

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet (2009) 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

Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol (2009) 1.78

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet (2007) 1.65

RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. Am J Med Genet A (2003) 1.65

The mutation spectrum in RECQL4 diseases. Eur J Hum Genet (2008) 1.61

The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. Eur J Med Genet (2008) 1.52

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet (2011) 1.48

Orofaciodigital syndrome with cerebral dysgenesis. Am J Med Genet A (2006) 1.45

Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A (2009) 1.44

Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. Circulation (2004) 1.44

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep (2012) 1.43

Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A (2005) 1.42

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet (2012) 1.41

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry (2009) 1.32

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet (2012) 1.30

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28

Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A (2007) 1.22

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology (2009) 1.19

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A (2007) 1.18

Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A (2005) 1.17

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer Lett (2005) 1.16

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet (2009) 1.15

Familial abdominal aortic aneurysms: collection of 233 multiplex families. J Vasc Surg (2003) 1.12

Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A (2009) 1.11

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr (2003) 1.11

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics (2007) 1.11

Craniosynostosis: A rare complication of pycnodysostosis. Eur J Med Genet (2010) 1.10

Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet (2011) 1.08

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat (2010) 1.08

Microcephaly. Handb Clin Neurol (2013) 1.05

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. Eur J Med Genet (2010) 1.04

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. Eur J Med Genet (2009) 1.02

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. Eur J Hum Genet (2009) 1.01

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet (2003) 0.99

The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. Eur J Med Genet (2008) 0.98

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. Am J Med Genet A (2009) 0.98

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes. Eur J Pediatr (2007) 0.97

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Hum Genet (2010) 0.97

CEMARA: a Web dynamic application within a N-tier architecture for rare diseases. Stud Health Technol Inform (2008) 0.96

Dysmorphology and the orbital region: a practical clinical approach. Surv Ophthalmol (2004) 0.95

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. Eur J Hum Genet (2012) 0.94

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Am J Med Genet A (2014) 0.94

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. Eur J Hum Genet (2005) 0.94

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet (2005) 0.93

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat (2012) 0.93

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. Am J Med Genet A (2013) 0.93

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. PLoS One (2012) 0.93

CEMARA an information system for rare diseases. Stud Health Technol Inform (2010) 0.90

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. Clin Dysmorphol (2003) 0.90

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res (2014) 0.89

An alternative approach in endocrine pathology research: MALDI-IMS in papillary thyroid carcinoma. Endocr Pathol (2013) 0.89

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. Eur J Hum Genet (2011) 0.89

Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome. Mol Cell Endocrinol (2006) 0.89

The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. Breast Cancer Res Treat (2010) 0.89

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? Am J Med Genet A (2005) 0.89

Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia (2007) 0.89

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies. Eur J Hum Genet (2012) 0.88

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet (2005) 0.88

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia. Am J Med Genet A (2012) 0.88

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. Am J Med Genet A (2007) 0.88

Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis. Am J Med Genet A (2005) 0.86

Temple-Baraitser syndrome: a rare and possibly unrecognized condition. Am J Med Genet A (2010) 0.86

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. Am J Med Genet A (2010) 0.86

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Eur J Med Genet (2010) 0.85

The neural progenitor-restricted isoform of the MARK4 gene in 19q13.2 is upregulated in human gliomas and overexpressed in a subset of glioblastoma cell lines. Oncogene (2003) 0.85

Differential cytogenomics and miRNA signature of the Acute Myeloid Leukaemia Kasumi-1 cell line CD34+38- compartment. Leuk Res (2010) 0.85

Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene. Am J Med Genet A (2012) 0.85

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet (2013) 0.85

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Am J Hum Genet (2010) 0.84

A familial syndromal form of omphalocele. Eur J Med Genet (2011) 0.83

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. J Med Genet (2010) 0.83

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. J Hum Genet (2008) 0.83

Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. J Invest Dermatol (2006) 0.82

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability. Am J Med Genet A (2014) 0.82

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients. Eur J Cancer (2013) 0.82

Aphallia, lung agenesis and multiple defects of blastogenesis. Fetal Pediatr Pathol (2011) 0.82

Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nat Genet (2015) 0.82

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Hum Mutat (2014) 0.81

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region. Eur J Hum Genet (2006) 0.81

Clinical utility gene card for: WAGR syndrome. Eur J Hum Genet (2011) 0.81

VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling. J Clin Invest (2011) 0.81