Published in J Med Genet on December 01, 2002
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. BMC Med Genet (2009) 1.15
Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A (2012) 1.08
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Hematol Oncol Clin North Am (2009) 1.05
A rare association of crossed fused renal ectopia. BMC Nephrol (2007) 1.03
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J Hum Genet (2012) 1.03
Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report. J Med Case Rep (2012) 0.90
Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy. J Genet Syndr Gene Ther (2013) 0.82
A critical role of RBM8a in proliferation and differentiation of embryonic neural progenitors. Neural Dev (2015) 0.82
General Certificate of Secondary Education performance in very low birthweight infants. Arch Dis Child (2003) 0.80
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report. BMC Res Notes (2013) 0.80
Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association. Int Med Case Rep J (2015) 0.80
Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome. Haematologica (2011) 0.76
Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome? J Clin Diagn Res (2015) 0.75
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans. Curr Genomics (2015) 0.75
Thrombocytopaenia with absent radius (not radii). BMJ Case Rep (2014) 0.75
A newborn with very rare von Voss-Cherstvoy syndrome: a case report. Int Med Case Rep J (2016) 0.75
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet (1997) 4.92
Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome. Prenat Diagn (1993) 2.11
Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance. J Med Genet (1998) 1.87
Cows' milk allergy in the syndrome of thrombocytopenia with absent radius. Arch Dis Child (1976) 1.84
Thrombocytopenia with absent radius (TAR). Medicine (Baltimore) (1969) 1.82
The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics (1993) 1.51
Thrombocytopenia and absent radius (TAR) syndrome. J Med Genet (1987) 1.47
Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet (1987) 1.38
Thrombocytopenia with absent radii. A review of 100 cases. Am J Pediatr Hematol Oncol (1988) 1.33
Roberts syndrome: a review of 100 cases and a new rating system for severity. Am J Med Genet (1993) 1.29
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet (1996) 1.22
Randomized clinical trial of thalidomide, cyclosporine, and prednisone versus cyclosporine and prednisone as initial therapy for chronic graft-versus-host disease. Biol Blood Marrow Transplant (2001) 1.18
Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome. Blood (2000) 1.12
Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR). Br J Haematol (1998) 1.02
Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome). Am J Med Genet (1985) 0.99
Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome. Am J Med Genet (1998) 0.97
RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. Am J Med Genet (1989) 0.95
Thrombocytopenia with absent radius in a boy and his uncle. Am J Med Genet (1987) 0.91
Prenatal diagnosis of thrombocytopenia with absent radii. Clin Genet (1979) 0.89
Radial aplasia and chromosome 22q11 deletion. J Med Genet (1997) 0.89
Behçet's disease in UK children: clinical features and treatment including thalidomide. Rheumatology (Oxford) (2001) 0.89
Teratogen update: clinical aspects of thalidomide embryopathy--a continuing preoccupation. Teratology (1985) 0.88
Thalidomide in cancer: potential uses and limitations. BioDrugs (2001) 0.87
Thrombocytopenia and absent radii (TAR) syndrome associated with horseshoe kidney. Pediatr Nephrol (2000) 0.87
Heterogeneity in Roberts syndrome. Am J Med Genet (1995) 0.86
Congenital hypoplastic thrombocytopenia with skeletal deformaties in siblings. Blood (1959) 0.83
Micrognathia-prenatal ultrasonographic diagnosis. Int J Gynaecol Obstet (1983) 0.83
Radial aplasia and amegakaryocytic thrombocytopenia (TAR syndrome) among Nigerian children. Am J Dis Child (1984) 0.80
Consanguinity in a Turkish family with thrombocytopenia with absent radii (TAR) syndrome. Hum Genet (1983) 0.80
Wilms' tumour and a de novo (1;7) translocation in a child with bilateral radial aplasia. J Med Genet (1991) 0.80
New features of thrombocytopenia and absent radius syndrome. Birth Defects Orig Artic Ser (1982) 0.79
Congenital hypomegakaryocytic thrombocytopenia associated with bilateral absence of the radius - the TAR syndrome. Hum Hered (1977) 0.79
Neurofibromatosis 1 and osseous fibrous dysplasia in a family. Am J Med Genet (1992) 0.79
Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations. Am J Med Genet (1989) 0.79
Holt-Oram syndrome with associated postaxial and central polydactyly. Further evidence for genetic heterogeneity in the Holt-Oram syndrome. Genet Couns (1996) 0.78
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet (2001) 6.96
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet (1997) 4.92
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell (1999) 4.87
Predicting disease genes using protein-protein interactions. J Med Genet (2006) 4.10
The modular nature of genetic diseases. Clin Genet (2007) 4.06
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry (2007) 3.44
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet (2005) 3.03
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet (2001) 2.95
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet (2001) 2.80
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet (2005) 2.80
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet (1999) 2.75
Ifosfamide-induced Fanconi syndrome. Lancet (1989) 2.43
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet (2000) 2.41
Leaf Age as a Determinant in Stomatal Control of Water Loss from Cotton during Water Stress. Plant Physiol (1975) 2.40
Food poisoning in England and Wales, 1966. Mon Bull Minist Health Public Health Lab Serv (1967) 2.31
Food poisoning and salmonella infections in England and Wales, 1973-75. An analysis of reports to the Public Health Laboratory Service. Public Health (1977) 2.28
Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain. Hum Mol Genet (1995) 2.27
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet (1991) 2.25
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet (1999) 2.20
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients. Am J Med Genet (1997) 2.17
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature (1997) 2.09
Vaccination of macaques against pathogenic simian immunodeficiency virus with Venezuelan equine encephalitis virus replicon particles. J Virol (2000) 2.09
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet (1997) 2.06
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet (2004) 2.04
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet (2000) 2.03
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediatr (1999) 2.00
AGRANULOCYTOSIS IN TWO PATIENTS RECEIVING PHENYLINDANEDIONE. Can Med Assoc J (1953) 1.98
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology (2001) 1.97
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Primary ventricular fibrillation complicating acute myocardial infarction. Am J Cardiol (1971) 1.88
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet (1999) 1.88
High prevalence of premalignant lesions in prophylactically removed breasts from women at hereditary risk for breast cancer. J Clin Oncol (2003) 1.86
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet (1999) 1.82
Identification of a human epithelial cell surface protein sharing an epitope with the C3d/Epstein-Barr virus receptor molecule of B lymphocytes. Int J Cancer (1989) 1.76
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet (2007) 1.76
Comparison of the effects of treatment of acute myocardial infarction in a coronary unit and on a general medical ward. Can Med Assoc J (1971) 1.76
Cardiac arrest remembered. Can Med Assoc J (1971) 1.75
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet (2009) 1.74
Quaking and Gas Exchange in Leaves of Cottonwood (Populus deltoides, Marsh.). Plant Physiol (1978) 1.70
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet (1994) 1.69
A viral vaccine vector that expresses foreign genes in lymph nodes and protects against mucosal challenge. J Virol (1996) 1.68
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet (1999) 1.67
Food poisoning and salmonella infections in England and Wales, 1969-1972. An analysis of reports to the Public Health Laboratory Service. Public Health (1974) 1.64
Testing the mutagenic potential of polyvinylpyrrolidone and methyl cellulose by sister chromatid exchange analysis prior to use in intracytoplasmic sperm injection procedures. Hum Reprod (1995) 1.63
Early fatal pontocerebellar hypoplasia in premature twin sisters. Eur J Paediatr Neurol (2000) 1.63
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet (2005) 1.60
3-M syndrome: description of six new patients with review of the literature. Clin Dysmorphol (2001) 1.60
Attenuated mutants of Venezuelan equine encephalitis virus containing lethal mutations in the PE2 cleavage signal combined with a second-site suppressor mutation in E1. Virology (1995) 1.57
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet (2004) 1.56
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet (2008) 1.56
Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations. J Med Genet (2003) 1.52
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. J Med Genet (2005) 1.48
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet (1999) 1.46
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Clin Genet (2011) 1.46
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet (2001) 1.45
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet (1999) 1.44
Technetium (99mTc)-labelled white cell scanning, 51Cr-EDTA and 14C-mannitol-labelled intestinal permeability studies: non-invasive methods of diagnosing acute intestinal graft-versus-host disease. Bone Marrow Transplant (1994) 1.41
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet (2003) 1.40
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology (2002) 1.40
Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. J Pediatr (1999) 1.39
A 46,XX,der(13;14)(q10;q10),+21 child born after a 45,XX,der(13;14)(q10;q10) chromosomal finding in CVS. Prenat Diagn (1997) 1.39
Low serum iron status and akathisia. Lancet (1987) 1.38
Food poisoning and Salmonella infections in England and Wales, 1967. Public Health (1969) 1.38
GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases. Nucleic Acids Res (2005) 1.38
Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet (2005) 1.36
Changing perspectives in coronary care. A five year study. Am J Cardiol (1967) 1.33
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet (2009) 1.31
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation. J Med Genet (2004) 1.30
Maternal allele loss in Wilms' tumour. Lancet (1989) 1.29
Under half of psychiatrists tell patients their diagnosis of Alzheimer's disease. BMJ (1998) 1.27
Radioimmunoassay of brain-type creatine kinase-BB isoenzyme in human tissues and in serum of patients with neurological disorders. J Neurol Sci (1980) 1.25
A fragile secondary constriction on chromosome 2 in a severely mentally retarded patient. J Ment Defic Res (1977) 1.25
Social skills and their correlates: preschoolers with developmental delays. Am J Ment Retard (1992) 1.23
Mucosal immunity induced by parenteral immunization with a live attenuated Venezuelan equine encephalitis virus vaccine candidate. Virology (1997) 1.22
Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab (2001) 1.22
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. J Clin Invest (1996) 1.22
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. J Med Genet (2003) 1.20
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet (2008) 1.20
Fragile X chromosome: clinical and cytogenetic studies on cases from seven families. J Med Genet (1983) 1.20
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics (1999) 1.19
Probing the gene expression database for candidate genes. Eur J Hum Genet (1999) 1.18
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. Am J Hum Genet (1999) 1.18
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn (2010) 1.17
Extracellular matrix components produced by SV40-transformed human epidermal keratinocytes. Int J Cancer (1984) 1.17
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. Br J Cancer (2007) 1.16
Malignant transformation of human embryo retinoblasts by cloned adenovirus 12 DNA. Nature (1982) 1.16
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat (2005) 1.16
Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females. Hum Genet (1982) 1.16
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Hum Mol Genet (1999) 1.13
Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy. Hum Genet (1989) 1.13
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clin Genet (2013) 1.13
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. J Med Genet (1992) 1.11
Variation of CNV distribution in five different ethnic populations. Cytogenet Genome Res (2007) 1.10