Published in Am J Med Genet A on December 15, 2007
Structural basis for sequence specific DNA binding and protein dimerization of HOXA13. PLoS One (2011) 0.96
A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies. Fertil Steril (2009) 0.92
Diminished vaginal HOXA13 expression in women with pelvic organ prolapse. Menopause (2009) 0.82
Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation. Nat Struct Mol Biol (2015) 0.81
A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family. J Genet (2017) 0.75
Personalized oncology through integrative high-throughput sequencing: a pilot study. Sci Transl Med (2011) 5.82
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet (2009) 3.58
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet (2002) 3.43
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet (2009) 2.93
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet (2004) 2.67
Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney Int (2011) 2.34
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet (2012) 2.15
A 14-year-old boy with chronic cyanosis, mild anemia, and limited physical resistance to stress. Clin Chem (2012) 2.02
Genome-wide promoter analysis of the SOX4 transcriptional network in prostate cancer cells. Cancer Res (2009) 1.97
Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. J Neurosurg (2006) 1.83
Analysis of Drosophila segmentation network identifies a JNK pathway factor overexpressed in kidney cancer. Science (2009) 1.83
Soft tissue sarcoma, version 2.2012: featured updates to the NCCN guidelines. J Natl Compr Canc Netw (2012) 1.82
Outcome of assisted reproduction. Lancet (2007) 1.72
Re: Kim, et al. Analysis of duplicate presentations accepted at two top international pediatric urology meetings. Journal of Pediatric Urology 2012; 8: 291-5 and editorial comment by Skoog, Journal of Pediatric Urology 2012; 8: 296. J Pediatr Urol (2012) 1.69
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest (2015) 1.69
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat (2010) 1.67
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
Treatment of pituitary neoplasms with temozolomide: a review. Cancer (2010) 1.63
Hypothalamic JNK1 and IKKβ activation and impaired early postnatal glucose metabolism after maternal perinatal high-fat feeding. Endocrinology (2011) 1.61
Preanalytical influences on the measurement of ghrelin. Clin Chem (2002) 1.57
Assisted reproductive techniques and risk of exstrophy-epispadias complex: a German case-control study. J Urol (2012) 1.55
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest (2013) 1.52
Intrauterine growth restriction leads to a dysregulation of Wilms' tumour supressor gene 1 (WT1) and to early podocyte alterations. Nephrol Dial Transplant (2012) 1.44
Changes in 11beta-hydroxysteroid dehydrogenase type 2 expression in a low-protein rat model of intrauterine growth restriction. Nephrol Dial Transplant (2010) 1.40
Automated Greulich-Pyle bone age determination in children with chronic kidney disease. Pediatr Nephrol (2015) 1.39
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res (2005) 1.38
Change of the course of steroid-dependent nephrotic syndrome after rituximab therapy. Pediatr Nephrol (2004) 1.37
CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol (2007) 1.35
Pregnancy course and outcome after intracytoplasmic sperm injection: a controlled, prospective cohort study. Fertil Steril (2004) 1.30
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 1.28
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Am J Med Genet A (2004) 1.26
A plan to reduce emergency room 'boarding' of psychiatric patients. Health Aff (Millwood) (2010) 1.25
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol (2008) 1.24
The exstrophy-epispadias complex. Orphanet J Rare Dis (2009) 1.24
Long-term follow-up after rituximab for steroid-dependent idiopathic nephrotic syndrome. Nephrol Dial Transplant (2011) 1.24
Human metapneumovirus RNA in encephalitis patient. Emerg Infect Dis (2005) 1.20
Range of HOX/TALE superclass associations and protein domain requirements for HOXA13:MEIS interaction. Dev Biol (2005) 1.19
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet (2011) 1.18
Presence of the M-type sPLA(2) receptor on neutrophils and its role in elastase release and adhesion. Am J Physiol Cell Physiol (2002) 1.16
Identification of ghrelin in human saliva: production by the salivary glands and potential role in proliferation of oral keratinocytes. Clin Chem (2005) 1.15
Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet A (2005) 1.14
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet (2013) 1.13
Stimulation of GCMa and syncytin via cAMP mediated PKA signaling in human trophoblastic cells under normoxic and hypoxic conditions. FEBS Lett (2005) 1.13
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. J Pediatr Urol (2011) 1.10
Assisted reproduction: the epigenetic perspective. Hum Reprod Update (2005) 1.10
First results of a European multi-center registry of patients with anorectal malformations. J Pediatr Surg (2013) 1.10
Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr (2009) 1.09
Characterisation of estrogenic 17beta-hydroxysteroid dehydrogenase (17beta-HSD) activity in the human brain. J Steroid Biochem Mol Biol (2003) 1.08
Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A (2012) 1.08
Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis. Hum Mutat (2012) 1.07
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. Kidney Int (2011) 1.07
Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability. Dev Biol (2005) 1.06
Conserved expression domains for genes upstream and within the HoxA and HoxD clusters suggests a long-range enhancer existed before cluster duplication. Evol Dev (2004) 1.06
Comparison of cryopreservation outcome with gonadotropin-releasing hormone agonists or antagonists in the collecting cycle. Fertil Steril (2002) 1.06
Low frequency of imprinting defects in ICSI children born small for gestational age. Eur J Hum Genet (2008) 1.05
Familial occurrence of the VATER/VACTERL association. Pediatr Surg Int (2012) 1.05
A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatr Nephrol (2010) 1.05
Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis (2006) 1.04
High frequency oscillatory ventilation suppresses inflammatory response in lung tissue and microdissected alveolar macrophages in surfactant depleted piglets. Pediatr Res (2003) 1.03
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations. Pediatr Surg Int (2010) 1.02
Induction of T-cell antitumor immunity and protection against tumor growth by secretion of soluble human CD70 molecules. Cancer Gene Ther (2004) 1.01
A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition. J Physiol (2010) 1.01
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Hum Genet (2007) 1.00
Circulating resistin concentrations in children depend on renal function. Nephrol Dial Transplant (2005) 1.00
Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. Am J Med Genet A (2007) 1.00
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Hum Mol Genet (2004) 0.99
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr (2011) 0.99
Evidence for dendritic cell-dependent CD4(+) T helper-1 type responses to commensal bacteria in normal human intestinal lamina propria. Clin Immunol (2009) 0.99
Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25. Birth Defects Res A Clin Mol Teratol (2010) 0.98
Cantú syndrome resulting from activating mutation in the KCNJ8 gene. Hum Mutat (2014) 0.98
Identifying risk factors for complications following sentinel lymph node biopsy for melanoma. Arch Surg (2005) 0.98
Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3. Am J Med Genet A (2012) 0.97
Altered 24-hour blood pressure profiles in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (2006) 0.97
Steroid sulfatase (STS) expression in the human temporal lobe: enzyme activity, mRNA expression and immunohistochemistry study. J Neurochem (2004) 0.96
Brain tumors: full- and half-dose contrast-enhanced MR imaging at 3.0 T compared with 1.5 T--Initial Experience. Radiology (2005) 0.96
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. Hum Mol Genet (2013) 0.96
Prophylactic use of epidermal growth factor reduces ischemia/reperfusion intestinal damage. Am J Pathol (2002) 0.96
Pharmacokinetics and safety of gadobutrol-enhanced magnetic resonance imaging in pediatric patients. Invest Radiol (2009) 0.94
Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles. Kidney Blood Press Res (2002) 0.94
BAC transgenic analysis reveals enhancers sufficient for Hoxa13 and neighborhood gene expression in mouse embryonic distal limbs and genital bud. Evol Dev (2008) 0.94
Functional magnetic resonance imaging of the sensorimotor system in preterm infants. Pediatrics (2009) 0.93
De novo microduplication at 22q11.21 in a patient with VACTERL association. Eur J Med Genet (2010) 0.93
What is the 'ideal' duration of progesterone supplementation before the transfer of cryopreserved-thawed embryos in estrogen/progesterone replacement protocols? Hum Reprod (2005) 0.93
Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. Clin Dysmorphol (2004) 0.93
Bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol (2009) 0.93
Dent disease in children: diagnostic and therapeutic considerations. Clin Nephrol (2015) 0.93
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. Eur J Oral Sci (2009) 0.93
Genome-wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin. Am J Med Genet A (2009) 0.92
Genital and reproductive function in males after functional reconstruction of the exstrophy-epispadias complex--long-term results. Urology (2008) 0.92
Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability. Nucleic Acids Res (2005) 0.92
Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations. Am J Med Genet (2002) 0.91
Inhibition of TGF-β signaling and decreased apoptosis in IUGR-associated lung disease in rats. PLoS One (2011) 0.91