Published in Am J Med Genet C Semin Med Genet on May 15, 2007
Pulmonary neuroendocrine cells function as airway sensors to control lung immune response. Science (2016) 2.15
Genetic aspects of human congenital diaphragmatic hernia. Clin Genet (2008) 1.81
Congenital diaphragmatic hernia. Orphanet J Rare Dis (2012) 1.40
A new scenario of the evolutionary derivation of the mammalian diaphragm from shoulder muscles. J Anat (2013) 0.97
MLPAinter for MLPA interpretation: an integrated approach for the analysis, visualisation and data management of Multiplex Ligation-dependent Probe Amplification. BMC Bioinformatics (2010) 0.91
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. Am J Med Genet A (2012) 0.89
Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example. ScientificWorldJournal (2010) 0.89
Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case. Pediatr Surg Int (2009) 0.78
Sonic hedgehog gene expression in nitrofen induced hypoplastic lungs in mice. Pediatr Surg Int (2009) 0.78
Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array. Pediatr Surg Int (2011) 0.76
Genetic tools and algorithms for gene discovery in major congenital anomalies. Birth Defects Res A Clin Mol Teratol (2009) 0.76
Case series on anesthesia for video-assisted thoracoscopic surgery for congenital diaphragmatic hernia in children. Anesth Essays Res (2016) 0.75
Abnormal Paraventricular Nucleus of Hypothalamus and Growth Retardation Associated with Loss of Nuclear Receptor Gene COUP-TFII. Sci Rep (2017) 0.75
Congenital diaphragmatic hernias: from genes to mechanisms to therapies. Dis Model Mech (2017) 0.75
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
Ovarian cancer side population defines cells with stem cell-like characteristics and Mullerian Inhibiting Substance responsiveness. Proc Natl Acad Sci U S A (2006) 4.66
A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes. Proc Natl Acad Sci U S A (2008) 3.57
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25
Sex determination and differentiation. N Engl J Med (2004) 3.07
Conditional deletion of beta-catenin in the mesenchyme of the developing mouse uterus results in a switch to adipogenesis in the myometrium. Dev Biol (2005) 2.07
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet (2007) 1.85
HOXB9, a gene overexpressed in breast cancer, promotes tumorigenicity and lung metastasis. Proc Natl Acad Sci U S A (2009) 1.45
Normal ovarian surface epithelial label-retaining cells exhibit stem/progenitor cell characteristics. Proc Natl Acad Sci U S A (2008) 1.41
Dissecting spatio-temporal protein networks driving human heart development and related disorders. Mol Syst Biol (2010) 1.35
Müllerian inhibiting substance regulates its receptor/SMAD signaling and causes mesenchymal transition of the coelomic epithelial cells early in Müllerian duct regression. Development (2006) 1.26
The immunophilin FKBP12: a molecular guardian of the TGF-beta family type I receptors. Front Biosci (2004) 1.25
Human ovarian cancer stem/progenitor cells are stimulated by doxorubicin but inhibited by Mullerian inhibiting substance. Proc Natl Acad Sci U S A (2012) 1.21
Mullerian inhibiting substance preferentially inhibits stem/progenitors in human ovarian cancer cell lines compared with chemotherapeutics. Proc Natl Acad Sci U S A (2010) 1.20
Adult mouse myometrial label-retaining cells divide in response to gonadotropin stimulation. Stem Cells (2007) 1.18
Management and long-term follow-up of patients with types III and IV laryngotracheoesophageal clefts. J Pediatr Surg (2005) 1.17
Highly purified müllerian inhibiting substance inhibits human ovarian cancer in vivo. Clin Cancer Res (2002) 1.15
Mullerian inhibiting substance acts as a motor neuron survival factor in vitro. Proc Natl Acad Sci U S A (2005) 1.14
MIS/AMH in the assessment of cryptorchidism and intersex conditions. Mol Cell Endocrinol (2003) 1.11
Chick pulmonary Wnt5a directs airway and vascular tubulogenesis. Development (2008) 1.10
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci U S A (2012) 1.08
Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene. Birth Defects Res A Clin Mol Teratol (2003) 1.07
Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. Am J Med Genet A (2005) 1.06
Mullerian Inhibiting Substance enhances subclinical doses of chemotherapeutic agents to inhibit human and mouse ovarian cancer. Proc Natl Acad Sci U S A (2006) 1.02
Recombinant human Mullerian inhibiting substance inhibits long-term growth of MIS type II receptor-directed transgenic mouse ovarian cancers in vivo. Clin Cancer Res (2006) 1.02
Intersex genetic anomalies with malignant potential. Curr Opin Pediatr (2006) 1.01
Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes. Proc Natl Acad Sci U S A (2012) 1.01
New approaches for high-yield purification of Müllerian inhibiting substance improve its bioactivity. J Chromatogr B Analyt Technol Biomed Life Sci (2002) 1.00
Endometrial cancer is a receptor-mediated target for Mullerian Inhibiting Substance. Proc Natl Acad Sci U S A (2004) 0.99
Mullerian-inhibiting substance regulates NF-kappa B signaling in the prostate in vitro and in vivo. Proc Natl Acad Sci U S A (2002) 0.99
Mullerian Inhibiting Substance inhibits cervical cancer cell growth via a pathway involving p130 and p107. Proc Natl Acad Sci U S A (2003) 0.98
Feedback inhibition of steroidogenic acute regulatory protein expression in vitro and in vivo by androgens. Endocrinology (2003) 0.98
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. Am J Med Genet A (2008) 0.96
MEK-1/2 inhibition reduces branching morphogenesis and causes mesenchymal cell apoptosis in fetal rat lungs. Am J Physiol Lung Cell Mol Physiol (2002) 0.96
Müllerian inhibiting substance/anti-Müllerian hormone: a potential therapeutic agent for human ovarian and other cancers. Future Oncol (2010) 0.95
c-Jun N-terminal kinase inhibitor II (SP600125) activates Mullerian inhibiting substance type II receptor-mediated signal transduction. Endocrinology (2007) 0.92
Uterine leiomyomas exhibit fewer stem/progenitor cell characteristics when compared with corresponding normal myometrium. Reprod Sci (2009) 0.92
Mullerian inhibiting substance inhibits invasion and migration of epithelial cancer cell lines. Gynecol Oncol (2010) 0.90
Focal Mullerian duct retention in male mice with constitutively activated beta-catenin expression in the Mullerian duct mesenchyme. Proc Natl Acad Sci U S A (2010) 0.90
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A (2010) 0.90
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. Am J Med Genet A (2012) 0.89
Mullerian inhibiting substance: an update. Adv Exp Med Biol (2002) 0.88
Mullerian inhibiting substance promotes interferon gamma-induced gene expression and apoptosis in breast cancer cells. J Biol Chem (2003) 0.88
Cell migration and activated PI3K/AKT-directed elongation in the developing rat Müllerian duct. Dev Biol (2008) 0.87
Congenital adrenal hyperplasia: surgical considerations required to repair a 46,XX patient raised as a boy. J Pediatr Surg (2003) 0.86
Mullerian-inhibiting substance induces Gro-beta expression in breast cancer cells through a nuclear factor-kappaB-dependent and Smad1-dependent mechanism. Cancer Res (2007) 0.85
Measurement of Mullerian inhibiting substance facilitates management of boys with microphallus and cryptorchidism. J Clin Endocrinol Metab (2002) 0.85
Mullerian inhibiting substance regulates androgen-induced gene expression and growth in prostate cancer cells through a nuclear factor-kappaB-dependent Smad-independent mechanism. Mol Endocrinol (2006) 0.83
Expression analysis and evolutionary conservation of the mouse germ cell-specific D6Mm5e gene. Dev Dyn (2006) 0.82
Mullerian inhibiting substance induces apoptosis of human endometrial stromal cells in endometriosis. J Clin Endocrinol Metab (2012) 0.82
Distribution of ERK1/2 and ERK3 during normal rat fetal lung development. Anat Embryol (Berl) (2005) 0.81
Müllerian-inhibiting substance inhibits rat Leydig cell regeneration after ethylene dimethanesulphonate ablation. Biol Reprod (2003) 0.81
Steroidogenic activities in MA-10 Leydig cells are differentially altered by cAMP and Müllerian inhibiting substance. J Steroid Biochem Mol Biol (2004) 0.81
Development of an efficiently cleaved, bioactive, highly pure FLAG-tagged recombinant human Mullerian Inhibiting Substance. Protein Expr Purif (2009) 0.79
Identification of characteristic molecular signature of Müllerian inhibiting substance in human HPV-related cervical cancer cells. Int J Oncol (2011) 0.77
Müllerian inhibiting substance is anterogradely transported and does not attenuate avulsion-induced death of hypoglossal motor neurons. Exp Neurol (2010) 0.77
Genomic structure and expression analysis of the mouse testis-specific ribbon protein (Trib) gene. Gene (2004) 0.76
The role of Müllerian inhibiting substance in the evaluation of phenotypic female patients with mild degrees of virilization. J Clin Endocrinol Metab (2003) 0.76
Genetic tools and algorithms for gene discovery in major congenital anomalies. Birth Defects Res A Clin Mol Teratol (2009) 0.76
Sexual dimorphism of G-protein subunit Gng13 expression in the cortical region of the developing mouse ovary. Dev Dyn (2007) 0.75
Meiosis I arrest abnormalities lead to severe oligozoospermia in meiosis 1 arresting protein (M1ap)-deficient mice. Biol Reprod (2013) 0.75
Expression of Müllerian inhibiting substance type II receptor and antiproliferative effects of MIS on human cervical cancer. Int J Oncol (2012) 0.75
Retinoic acid-mediated differentiation protects against nitrofen-induced apoptosis. Birth Defects Res B Dev Reprod Toxicol (2007) 0.75
Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-2004. A 23-day-old infant with hypospadias and failure to thrive. N Engl J Med (2004) 0.75