Published in Am J Med Genet A on June 01, 2005
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. J Med Genet (2011) 1.00
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. Mol Syndromol (2013) 0.94
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. Hum Mutat (2013) 0.94
CNV analysis in 169 patients with bladder exstrophy-epispadias complex. BMC Med Genet (2016) 0.82
Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes. Curr Genomics (2016) 0.75
Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study. Am J Med Genet A (2017) 0.75
Cloacal exstrophy with extensive Chiari II malformation: case report and review of the literature. Childs Nerv Syst (2013) 0.75
Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report. Exp Ther Med (2017) 0.75
Fractionated but not single-dose radiotherapy induces an immune-mediated abscopal effect when combined with anti-CTLA-4 antibody. Clin Cancer Res (2009) 4.58
Ionizing radiation inhibition of distant untreated tumors (abscopal effect) is immune mediated. Int J Radiat Oncol Biol Phys (2004) 4.29
Immune-mediated inhibition of metastases after treatment with local radiation and CTLA-4 blockade in a mouse model of breast cancer. Clin Cancer Res (2005) 4.23
Stat3 protects against Fas-induced liver injury by redox-dependent and -independent mechanisms. J Clin Invest (2003) 3.02
Radiation-induced CXCL16 release by breast cancer cells attracts effector T cells. J Immunol (2008) 2.61
Gene expression profile in the regenerating rat liver after partial hepatectomy. J Hepatol (2003) 2.43
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab (2002) 1.66
An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. Ann Neurol (2005) 1.64
Suppressing T cell motility induced by anti-CTLA-4 monotherapy improves antitumor effects. J Clin Invest (2012) 1.55
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab (2004) 1.51
The combination of ionizing radiation and peripheral vaccination produces long-term survival of mice bearing established invasive GL261 gliomas. Clin Cancer Res (2006) 1.51
Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias. J Hum Genet (2012) 1.50
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. J Hum Genet (2010) 1.49
A new technique of concealed penis repair. J Urol (2009) 1.48
Complete mutation analysis panel of the 39 human HOX genes. Teratology (2002) 1.47
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr (2006) 1.45
One-stage repair of severe hypospadias using modified tubularized transverse preputial island flap with V-incision suture. J Pediatr Urol (2008) 1.43
Prepubertal testicular tumors: a 20-year experience with 40 cases. Int J Urol (2010) 1.41
Genitourinary anomaly in congenital varicella syndrome: case report and review. Pediatr Nephrol (2004) 1.38
Synergy of topical toll-like receptor 7 agonist with radiation and low-dose cyclophosphamide in a mouse model of cutaneous breast cancer. Clin Cancer Res (2012) 1.31
Invariant natural killer T cells regulate breast cancer response to radiation and CTLA-4 blockade. Clin Cancer Res (2009) 1.31
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan. Mol Genet Metab (2012) 1.30
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet (2009) 1.28
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab (2004) 1.24
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr (2012) 1.20
A novel association of duodenal atresia, malrotation, segmental dilatation of the colon, and anorectal malformation. Pediatr Surg Int (2009) 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
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. Orphanet J Rare Dis (2013) 1.12
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. Congenit Anom (Kyoto) (2004) 1.12
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet (2013) 1.11
Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features. Am J Med Genet A (2005) 1.10
Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. Endocr J (2006) 1.09
Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. Am J Med Genet A (2004) 1.08
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis. J Dermatol Sci (2012) 1.05
Paternal UPD14 is responsible for a distinctive malformation complex. Am J Med Genet (2002) 1.02
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. Hum Mutat (2004) 1.02
Position-specific expression of Hox genes along the gastrointestinal tract. Congenit Anom (Kyoto) (2004) 1.02
High dose intravenous methylprednisolone resolves esophageal stricture resistant to balloon dilatation with intralesional injection of dexamethasone. Pediatr Surg Int (2008) 1.02
The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation. Am J Med Genet A (2008) 1.01
Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome. J Clin Endocrinol Metab (2007) 1.01
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. Mol Genet Metab (2011) 0.99
Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A (2006) 0.99
Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. Am J Med Genet A (2006) 0.97
Current role of liver transplantation for methylmalonic acidemia: a review of the literature. Pediatr Transplant (2006) 0.96
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. Am J Med Genet A (2005) 0.95
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. Am J Med Genet A (2013) 0.95
Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion. J Hum Genet (2012) 0.94
Resolution of hepatopulmonary syndrome after ligation of a portosystemic shunt in a pediatric patient with an Abernethy malformation. J Pediatr Surg (2008) 0.94
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. Mol Genet Metab (2009) 0.94
Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome. Birth Defects Res A Clin Mol Teratol (2007) 0.94
Liver position in fetal congenital diaphragmatic hernia retains a prognostic value in the era of lung-protective strategy. J Pediatr Surg (2005) 0.93
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. Ophthalmic Genet (2002) 0.93
Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities. Hum Reprod (2007) 0.92
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting. Am J Med Genet A (2012) 0.91
Radiotherapy enhances antitumor effect of anti-CD137 therapy in a mouse Glioma model. Radiat Res (2010) 0.91
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. Pigment Cell Res (2006) 0.90
Renal angiomyolipoma in Japanese tuberous sclerosis patients. J Pediatr Surg (2004) 0.90
Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and a pathological insight into pilosebaceous anomaly. Am J Dermatopathol (2011) 0.90
An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome. Am J Med Genet A (2007) 0.90
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. Am J Hum Genet (2013) 0.90
Microdeletion of the Down syndrome critical region at 21q22. Am J Med Genet A (2010) 0.90
Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. Am J Med Genet A (2005) 0.89
Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF. Am J Med Genet A (2006) 0.88
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings. Mol Genet Metab (2013) 0.88
Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma. J Pediatr Hematol Oncol (2006) 0.88
Newborn screening for Pompe disease in Japan. Mol Genet Metab (2011) 0.87
Inhibition of allogeneic T-cell responses by dendritic cells expressing transduced indoleamine 2,3-dioxygenase. J Gene Med (2005) 0.87
Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication. Congenit Anom (Kyoto) (2005) 0.87
DHPLC in clinical molecular diagnostic services. Mol Genet Metab (2005) 0.86
Identification of novel low-dose bisphenol a targets in human foreskin fibroblast cells derived from hypospadias patients. PLoS One (2012) 0.86
Hemp, an mbt domain-containing protein, plays essential roles in hematopoietic stem cell function and skeletal formation. Proc Natl Acad Sci U S A (2011) 0.86
1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay. Am J Med Genet A (2013) 0.86
Repeat STEP procedure to establish enteral nutrition in an infant with short bowel syndrome. Pediatr Surg Int (2009) 0.86
Improvement of skeletal lesions in mice with mucopolysaccharidosis type VII by neonatal adenoviral gene transfer. Mol Ther (2003) 0.86
Influence of CYP3A5 and ABCB1 gene polymorphisms on calcineurin inhibitor-related neurotoxicity after hematopoietic stem cell transplantation. Clin Transplant (2010) 0.86
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. J Clin Endocrinol Metab (2003) 0.86
Characteristic phenotype of immortalized periodontal cells isolated from a Marfan syndrome type I patient. Cell Tissue Res (2007) 0.86
Clinical significance of intensive surgery with intraoperative radiation for advanced neuroblastoma: does it really make sense? J Pediatr Surg (2003) 0.85
Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome. Am J Med Genet A (2010) 0.85
Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis. Teratology (2002) 0.85