Published in Am J Med Genet A on December 01, 2007
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. Acta Myol (2013) 0.89
Clinical Utility Gene Card for: Familial partial lipodystrophy. Eur J Hum Genet (2016) 0.77
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
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
The Stockholm Neonatal Family Centered Care Study: effects on length of stay and infant morbidity. Pediatrics (2010) 1.49
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
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. Hum Mutat (2006) 1.20
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
Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox. Mol Genet Metab (2005) 1.14
Gastrointestinal stromal tumors of the vermiform appendix: clinicopathologic, immunohistochemical, and molecular study of 2 cases with literature review. Hum Pathol (2008) 1.03
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
Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males. Fertil Steril (2006) 1.01
Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol (2003) 1.00
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. Eur J Hum Genet (2007) 1.00
Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Mol Cell Biol (2006) 0.99
The role of adaptor proteins in lymphocyte activation. Mol Immunol (2004) 0.99
Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP. Muscle Nerve (2013) 0.97
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol (2005) 0.96
Small-scale diversity and succession of fungi in the detritusphere of rye residues. Microb Ecol (2009) 0.95
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
Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers. Clin Biochem (2009) 0.92
The transmembrane adapter protein SIT regulates thymic development and peripheral T-cell functions. Mol Cell Biol (2005) 0.92
Expression, alternative splicing and haplotype analysis of transcribed testis specific protein (TSPY) genes. Gene (2003) 0.90
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities. Muscle Nerve (2007) 0.90
Serotonin reuptake transporter (SERT) plays a critical role in the onset of fructose-induced hepatic steatosis in mice. Am J Physiol Gastrointest Liver Physiol (2009) 0.90
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Hum Mutat (2005) 0.90
Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development. Eur J Endocrinol (2012) 0.89
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
Brain 1H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1. Muscle Nerve (2006) 0.88
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
The SCIentinel study--prospective multicenter study to define the spinal cord injury-induced immune depression syndrome (SCI-IDS)--study protocol and interim feasibility data. BMC Neurol (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
Response of total and nitrate-dissimilating bacteria to reduced N deposition in a spruce forest soil profile. FEMS Microbiol Ecol (2009) 0.86
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
Loss of heterozygosity on chromosome 5p13-12 predicts adverse prognosis in advanced bladder cancer independent of tumor stage and grade. J Urol (2002) 0.85
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. Neurogenetics (2003) 0.85
INTS6/DICE1 inhibits growth of human androgen-independent prostate cancer cells by altering the cell cycle profile and Wnt signaling. Cancer Cell Int (2009) 0.84
Old-New World and trans-African disjunctions of Thamnosma (Rutaceae): intercontinental long-distance dispersal and local differentiation in the succulent biome. Am J Bot (2010) 0.84
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn. Eur J Hum Genet (2012) 0.83
Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. Horm Res Paediatr (2014) 0.83
High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11). Genes Chromosomes Cancer (2006) 0.83
Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer. Oncogene (2005) 0.83
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
Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome. Eur J Endocrinol (2009) 0.82
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. Am J Med Genet A (2013) 0.82
Ultrastructural characterization of mouse embryonic stem cell-derived oocytes and granulosa cells. Stem Cells Dev (2011) 0.82
Dispermic chimerism identified during blood group determination and HLA typing. Transfusion (2006) 0.82
Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion. J Neurol (2003) 0.81
Complete molecular remission in a patient with Philadelphia-chromosome positive acute myeloid leukemia after conventional therapy and imatinib. Haematologica (2004) 0.81
Identification of Alu elements mediating a partial PMP22 deletion. Neurogenetics (2006) 0.81
Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS). Glycoconj J (2007) 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
Molecular interactions of B-CAM (basal-cell adhesion molecule) and laminin in epithelial skin cancer. Arch Dermatol Res (2004) 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
Analysis of the transcobalamin II 776C>G (259P>R) single nucleotide polymorphism by denaturing HPLC in healthy elderly: associations with cobalamin, homocysteine and holo-transcobalamin II. Clin Chem Lab Med (2003) 0.78
Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome. Prenat Diagn (2004) 0.78
Increased blood plasma concentrations of TGF-beta isoforms after treatment with intravenous immunoglobulins (i.v.IG) in patients with multiple sclerosis. J Neuroimmunol (2004) 0.78
Gain of androgen receptor gene copies in primary prostate cancer due to X chromosome polysomy. Prostate (2004) 0.78
Long-term persistence and effects of fetal microchimerisms on disease onset and status in a cohort of women with rheumatoid arthritis and systemic lupus erythematosus. BMC Musculoskelet Disord (2013) 0.78
Infectious and immunologic phenotype of MECP2 duplication syndrome. J Clin Immunol (2015) 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
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
The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy. J Mol Endocrinol (2007) 0.76
Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with KATP channel mutations. J Pediatr Endocrinol Metab (2016) 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
Even in pneumococcal sepsis CD62L shedding on granulocytes proves to be a reliable functional test for the diagnosis of interleukin-1 receptor-associated kinase-4 deficiency. Pediatr Infect Dis J (2013) 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
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
Antibiotic Prophylaxis, Immunoglobulin Substitution and Supportive Measures Prevent Infections in MECP2 Duplication Syndrome. Pediatr Infect Dis J (2017) 0.75
Increased blood plasma concentrations of TGF-beta1 and TGF-beta2 after treatment with intravenous immunoglobulins in childhood autoimmune diseases. Pediatr Allergy Immunol (2008) 0.75
Liver abscess complicated by diaphragm perforation and pleural empyema leads to the discovery of interleukin-1 receptor-associated kinase 4 deficiency. Pediatr Infect Dis J (2014) 0.75
Glycine affects valproate hepatotoxicity. Res Commun Mol Pathol Pharmacol (2011) 0.75
Jumping translocation of 1q in a BCR/ABL-positive acute lymphoblastic leukemia. Cancer Genet Cytogenet (2005) 0.75