Published in Cancer Genet Cytogenet on March 01, 2005
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Follicular B helper T cell activity is confined to CXCR5(hi)ICOS(hi) CD4 T cells and is independent of CD57 expression. Eur J Immunol (2006) 3.85
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet (2004) 1.78
Novel associations in disorders of sex development: findings from the I-DSD Registry. J Clin Endocrinol Metab (2013) 1.76
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PLoS One (2011) 1.75
Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril (2010) 1.44
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet (2009) 1.23
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat (2008) 1.18
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Hum Mutat (2005) 1.17
Dependence on nuclear factor of activated T-cells (NFAT) levels discriminates conventional T cells from Foxp3+ regulatory T cells. Proc Natl Acad Sci U S A (2012) 1.11
Fludarabine and bendamustine in refractory and relapsed indolent lymphoma--a multicenter phase I/II Trial of the east german society of hematology and oncology (OSHO). Leuk Lymphoma (2004) 1.08
Follicular regulatory T cells control humoral autoimmunity via NFAT2-regulated CXCR5 expression. J Exp Med (2014) 1.08
Dissecting physiological roles of estrogen receptor alpha and beta with potent selective ligands from structure-based design. Mol Endocrinol (2004) 1.07
Gastrointestinal stromal tumors of the vermiform appendix: clinicopathologic, immunohistochemical, and molecular study of 2 cases with literature review. Hum Pathol (2008) 1.03
Accuracy and inter-observer variability of 3D versus 4D cone-beam CT based image-guidance in SBRT for lung tumors. Radiat Oncol (2012) 1.02
Impact of isotype-selective estrogen receptor agonists on ovarian function. Proc Natl Acad Sci U S A (2004) 1.01
Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: a report of three new cases with mutational analysis and comparative genomic hybridization. Oncol Rep (2007) 1.01
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. Eur J Hum Genet (2007) 1.00
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol (2005) 0.96
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. Am J Obstet Gynecol (2007) 0.94
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function. BMC Med Genet (2010) 0.93
A comparison between 2-Step IMRT and conventional IMRT planning. Radiother Oncol (2007) 0.91
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males. Eur J Hum Genet (2013) 0.89
Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development. Eur J Endocrinol (2012) 0.89
Establishment and characterization of the permanent human cell line C3842 derived from a secondary chondrosarcoma in Ollier's disease. Virchows Arch (2005) 0.87
Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p. Am J Med Genet A (2006) 0.87
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. Sex Dev (2010) 0.87
A chronic model of arthritis supported by a strain-specific periarticular lymph node in BALB/c mice. Nat Commun (2013) 0.86
Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer. Hum Mol Genet (2012) 0.86
Prospective evaluation of quality of life after permanent prostate brachytherapy with I-125: importance of baseline symptoms and of prostate-V150. Radiother Oncol (2009) 0.85
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet (2013) 0.85
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. Neurogenetics (2003) 0.85
High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11). Genes Chromosomes Cancer (2006) 0.83
Ultrastructural characterization of mouse embryonic stem cell-derived oocytes and granulosa cells. Stem Cells Dev (2011) 0.82
Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome. Eur J Endocrinol (2009) 0.82
Further insights into the role of the annexin A5 M2 haplotype as recurrent pregnancy loss factor, assessing timing of miscarriage and partner risk. Fertil Steril (2013) 0.82
Dispermic chimerism identified during blood group determination and HLA typing. Transfusion (2006) 0.82
Complete molecular remission in a patient with Philadelphia-chromosome positive acute myeloid leukemia after conventional therapy and imatinib. Haematologica (2004) 0.81
Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3). Sex Dev (2015) 0.81
Novel and recurrent mutations in patients with androgen insensitivity syndromes. Horm Res (2005) 0.81
Outcomes differ between subgroups of patients with low back and leg pain following neural manual therapy: a prospective cohort study. Eur Spine J (2010) 0.80
Gastrointestinal stromal tumor presenting as a rectovaginal mass. Clinicopathologic and molecular-genetic characterization of a rare tumor with a literature review. Hum Pathol (2011) 0.80
Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. Prenat Diagn (2008) 0.80
Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report. J Assist Reprod Genet (2013) 0.79
Genotype/phenotype analysis in a patient with pure and complete trisomy 12p. Am J Med Genet A (2004) 0.79
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. Am J Med Genet A (2007) 0.79
Lymphoid organogenesis: getting the green light from RORgamma(t). Nat Immunol (2004) 0.78
Immunotherapy of B-cell non-Hodgkin lymphoma by targeting the chemokine receptor CXCR5 in a preclinical mouse model. Int J Cancer (2014) 0.78
Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome. Prenat Diagn (2004) 0.78
Gain of androgen receptor gene copies in primary prostate cancer due to X chromosome polysomy. Prostate (2004) 0.78
A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation. Neurogenetics (2005) 0.77
Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb. Muscle Nerve (2002) 0.77
The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy. J Mol Endocrinol (2007) 0.76
Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC. Eur J Pediatr (2006) 0.76
Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7). Appl Clin Genet (2008) 0.75
Novel chromosomal aberrations in a recurrent malignant meningioma. Cancer Genet Cytogenet (2007) 0.75
Pseudotrisomy 13: clinical findings and genetic implications. Fetal Diagn Ther (2005) 0.75
Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization. Sex Dev (2017) 0.75
Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs. J Steroid Biochem Mol Biol (2006) 0.75
Further delineation of Wittwer syndrome and refinement of the mapping region. Am J Med Genet A (2003) 0.75
New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria. Sex Dev (2017) 0.75