Published in Sex Dev on May 04, 2010
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Med Genet (2013) 0.85
A genome-wide association study points out the causal implication of SOX9 in the sex-reversal phenotype in XX pigs. PLoS One (2013) 0.78
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. Eur J Hum Genet (2014) 0.78
RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts. Epigenetics (2013) 0.76
Molecular cloning and expression analysis of dmrt1 and sox9 during gonad development and male reproductive cycle in the lambari fish, Astyanax altiparanae. Reprod Biol Endocrinol (2015) 0.75
Familial complex chromosome rearrangement (CCR) involving 5 breakpoints on chromosomes 1, 3 and 13 in a severe oligozoospermic patient. J Assist Reprod Genet (2013) 0.75
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. Mol Genet Genomic Med (2015) 0.75
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
A conserved family of nuclear proteins containing structural elements of the finger protein encoded by Krüppel, a Drosophila segmentation gene. Cell (1986) 4.39
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol (2000) 2.71
What do people think about when they answer the Brief Illness Perception Questionnaire? A 'think-aloud' study. Br J Health Psychol (2011) 2.10
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
cis-acting control elements for Krüppel expression in the Drosophila embryo. EMBO J (1990) 1.70
Exploration of Victoria crater by the Mars rover Opportunity. Science (2009) 1.56
Posterior segmentation of the Drosophila embryo in the absence of a maternal posterior organizer gene. Nature (1989) 1.51
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet (2008) 1.49
Resting energy expenditure in obese children aged 4 to 15 years: measured versus predicted data. Acta Paediatr (2004) 1.49
Patellar tracking patterns during active and passive knee extension: evaluation with motion-triggered cine MR imaging. Radiology (1993) 1.48
Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril (2010) 1.44
Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet Genome Res (2006) 1.42
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
Hypergonadotropic hypogonadism in a patient with inv ins (2;4). Int J Androl (2007) 1.40
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J Med Genet (2008) 1.37
Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Mol Psychiatry (2010) 1.33
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. J Med Genet (2004) 1.30
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
Hemodialysis in children: general practical guidelines. Pediatr Nephrol (2005) 1.16
Nephrotoxicity associated with ifosfamide. Eur J Pediatr (1988) 1.14
Predictive impact of activated leukocyte cell adhesion molecule (ALCAM/CD166) in breast cancer. Breast Cancer Res Treat (2008) 1.12
Localization of the gene for X-linked Alport's syndrome. Kidney Int (1988) 1.12
Prevention and treatment of renal osteodystrophy in children on chronic renal failure: European guidelines. Pediatr Nephrol (2005) 1.09
TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12. Hum Mol Genet (1994) 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
Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH. J Med Genet (2001) 1.02
Cold air challenge of airway hyperreactivity in children: practical application and theoretical aspects. Pediatr Res (1984) 1.02
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
Regulatory and coding regions of the segmentation gene hunchback are functionally conserved between Drosophila virilis and Drosophila melanogaster. Mech Dev (1994) 0.99
Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling. Clin Genet (2000) 0.99
Cine MR imaging before and after realignment surgery for patellar maltracking -- comparison with axial radiographs. Skeletal Radiol (1995) 0.98
Differences in the location of nucleolus organizer regions in European vespertilionid bats. Cytogenet Cell Genet (1987) 0.97
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol (2005) 0.96
Ancient impact and aqueous processes at Endeavour Crater, Mars. Science (2012) 0.95
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3). Am J Hum Genet (2000) 0.95
Genome size of man and animals relative to the plant Allium cepa. Can J Genet Cytol (1983) 0.95
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Hum Genet (2013) 0.94
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
The tail domain of myosin M catalyses nucleotide exchange on Rac1 GTPases and can induce actin-driven surface protrusions. Traffic (2000) 0.93
Cryptic mammalian species: a new species of whiskered bat (Myotis alcathoe n. sp.) in Europe. Naturwissenschaften (2001) 0.93
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. Cytogenet Genome Res (2007) 0.92
Prevalence of carbapenem-resistant organisms and other Gram-negative MDRO in German ICUs: first results from the national nosocomial infection surveillance system (KISS). Infection (2014) 0.92
Investigation of 4q-deletion in two unrelated patients using array CGH. Am J Med Genet A (2008) 0.92
Jarosite and hematite at Meridiani Planum from Opportunity's Mossbauer Spectrometer. Science (2004) 0.91
[Detection of Coxiella burnetii in the air of a sheep barn during shearing]. Dtsch Tierarztl Wochenschr (2005) 0.91
Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes. J Med Genet (2002) 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
New technologies for the identification of novel genetic markers of disorders of sex development (DSD). Sex Dev (2010) 0.89
Immunohistochemical localization of a ligand-binding and a structural subunit of nicotinic acetylcholine receptors in the central nervous system of Drosophila melanogaster. J Comp Neurol (1993) 0.89
Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development. Cytogenet Genome Res (2006) 0.88
Five novel locations of Neocentromeres in human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and heterochromatin of unknown origin. Cytogenet Genome Res (2012) 0.88
Karyotype relationships of six bat species (Chiroptera, Vespertilionidae) from China revealed by chromosome painting and G-banding comparison. Cytogenet Genome Res (2006) 0.88
Simulation studies of the protein-water interface. II. Properties at the mesoscopic resolution. J Chem Phys (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
A complex phenotype with cystic renal disease. Kidney Int (2006) 0.87
Binding and phagocytosis of sialidase-treated rat erythrocytes by a mechanism independent of opsonins. Hoppe Seylers Z Physiol Chem (1983) 0.87
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
Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction. J Clin Endocrinol Metab (2011) 0.86
Requirement of caveolae microdomains in extracellular signal-regulated kinase and focal adhesion kinase activation induced by endothelin-1 in primary astrocytes. J Neurochem (1999) 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
Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney. Hum Mutat (2005) 0.85
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. Neurogenetics (2003) 0.85
[Experiences with mass screening in a normal collective]. Z Arztl Fortbild (Jena) (1972) 0.84
Expression of the ligand-binding nicotinic acetylcholine receptor subunit D alpha 2 in the Drosophila central nervous system. J Neurobiol (1994) 0.84
Ultrasound stimulation of micro-organisms for enhanced biodegradation. Ultrasonics (2002) 0.84
Quality of salivary tears following autologous submandibular gland transplantation for severe dry eye. Graefes Arch Clin Exp Ophthalmol (1999) 0.83
Frequency, histopathological findings, and clinical significance of cervical heterotopic gastric mucosa (gastric inlet patch): a prospective study in 300 patients. Dis Esophagus (2011) 0.83
Microarrays of recombinant Hevea brasiliensis proteins: a novel tool for the component-resolved diagnosis of natural rubber latex allergy. J Investig Allergol Clin Immunol (2010) 0.83
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. J Med Genet (2002) 0.83
Intramolecular vibrational energy redistribution in bridged azulene-anthracene compounds: ballistic energy transport through molecular chains. J Chem Phys (2004) 0.83
High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11). Genes Chromosomes Cancer (2006) 0.83
Significance of the caspase family in Helicobacter pylori induced gastric epithelial apoptosis. Helicobacter (2002) 0.83
Ultrastructural characterization of mouse embryonic stem cell-derived oocytes and granulosa cells. Stem Cells Dev (2011) 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
Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome. Eur J Endocrinol (2009) 0.82
Dispermic chimerism identified during blood group determination and HLA typing. Transfusion (2006) 0.82
Hyperhomocyst(e)inaemia in children with chronic renal failure. Nephrol Dial Transplant (1999) 0.81
[Anatomy and biomechanics of the patellofemoral joint: physiological conditions and changes after total knee arthroplasty]. Orthopade (2011) 0.81
Complete molecular remission in a patient with Philadelphia-chromosome positive acute myeloid leukemia after conventional therapy and imatinib. Haematologica (2004) 0.81
Evoked potentials in children with chronic renal failure, treated conservatively or by continuous ambulatory peritoneal dialysis. Pediatr Nephrol (1995) 0.81
Bambuterol and terbutaline in human cerebrospinal fluid and plasma. Eur J Clin Pharmacol (1993) 0.81
Effects of bradykinin and endothelin-1 on the calcium homeostasis of mammalian cells. J Biol Chem (1995) 0.81
Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders. Mol Hum Reprod (1999) 0.81
[The physician of the soul: Albert Moll (1862-1939)]. Z Arztl Fortbild (Jena) (1989) 0.81
Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. Eur J Med Genet (2007) 0.81
Dielectric and terahertz spectroscopy of polarizable and nonpolarizable water models: a comparative study. J Phys Chem A (2014) 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
[Double staining of semi-thin sections with basic dyes]. Mikroskopie (1970) 0.80