Michael Ludwig Department of Cell and Developmental Biology University of Colorado Denver Biography Publications Institution JoVE Articles Michael Ludwig has not added a biography. If you are Michael Ludwig and would like to personalize this page please email our Author Liaison for assistance. Publications Dent Disease in Children: Diagnostic and Therapeutic Considerations Clinical Nephrology. Oct, 2015 | Pubmed ID: 26308078 Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association Human Mutation. Aug, 2015 | Pubmed ID: 26294094 Dealing with the Incidental Finding of Secondary Variants by the Example of SRNS Patients Undergoing Targeted Next-generation Sequencing Pediatric Nephrology (Berlin, Germany). Aug, 2015 | Pubmed ID: 26248470 Natural Variation of the Expression Pattern of the Segmentation Gene Even-skipped in Melanogaster Developmental Biology. Sep, 2015 | Pubmed ID: 26129990 WNT3 Involvement in Human Bladder Exstrophy and Cloaca Development in Zebrafish Human Molecular Genetics. Sep, 2015 | Pubmed ID: 26105184 Investigation of the Role of TCF4 Rare Sequence Variants in Schizophrenia American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. Jul, 2015 | Pubmed ID: 26010163 Mutations in PTF1A Are Not a Common Cause for Human VATER/VACTERL Association or Neural Tube Defects Mirroring Danforth's Short Tail Mouse Molecular Medicine Reports. Jul, 2015 | Pubmed ID: 25775927 Genome-wide Association Study and Meta-analysis Identify ISL1 As Genome-wide Significant Susceptibility Gene for Bladder Exstrophy PLoS Genetics. Mar, 2015 | Pubmed ID: 25763902 Organoid Models of Human and Mouse Ductal Pancreatic Cancer Cell. Jan, 2015 | Pubmed ID: 25557080 Characterization of 28 Novel Patients Expands the Mutational and Phenotypic Spectrum of Lowe Syndrome Pediatric Nephrology (Berlin, Germany). Jun, 2015 | Pubmed ID: 25480730 Genome-wide Mapping of Copy Number Variations in Patients with Both Anorectal Malformations and Central Nervous System Abnormalities Birth Defects Research. Part A, Clinical and Molecular Teratology. Apr, 2015 | Pubmed ID: 25250690 Clinical Utility Gene Card For: Lowe Syndrome European Journal of Human Genetics : EJHG. Jun, 2015 | Pubmed ID: 25182134 Screening for Stress-resistance Mutations in the Mouse Frontiers in Genetics. 2014 | Pubmed ID: 25250048 Interactions Between Neutrophils and Non-small Cell Lung Cancer Cells: Enhancement of Tumor Proliferation and Inflammatory Mediator Synthesis Cancer Immunology, Immunotherapy : CII. Dec, 2014 | Pubmed ID: 25186613 Heterozygous FGF8 Mutations in Patients Presenting Cryptorchidism and Multiple VATER/VACTERL Features Without Limb Anomalies Birth Defects Research. Part A, Clinical and Molecular Teratology. Oct, 2014 | Pubmed ID: 25131394 Genome-wide Association Study and Mouse Expression Data Identify a Highly Conserved 32 Kb Intergenic Region Between WNT3 and WNT9b As Possible Susceptibility Locus for Isolated Classic Exstrophy of the Bladder Human Molecular Genetics. Oct, 2014 | Pubmed ID: 24852367 No Major Role for Periconceptional Folic Acid Use and Its Interaction with the MTHFR C677T Polymorphism in the Etiology of Congenital Anorectal Malformations Birth Defects Research. Part A, Clinical and Molecular Teratology. Jun, 2014 | Pubmed ID: 24841934 Naturally Occurring Deletions of Hunchback Binding Sites in the Even-skipped Stripe 3+7 Enhancer PloS One. 2014 | Pubmed ID: 24786295 Classic Bladder Exstrophy: Frequent 22q11.21 Duplications and Definition of a 414 Kb Phenocritical Region Birth Defects Research. Part A, Clinical and Molecular Teratology. Jun, 2014 | Pubmed ID: 24764164 Evidence for Annular Pancreas As an Associated Anomaly in the VATER/VACTERL Association and Investigation of the Gene Encoding Pancreas Specific Transcription Factor 1A As a Candidate Gene American Journal of Medical Genetics. Part A. Jun, 2014 | Pubmed ID: 24668915 Clinical Utility Gene Card For: Dent Disease (Dent-1 and Dent-2) European Journal of Human Genetics : EJHG. Nov, 2014 | Pubmed ID: 24619144 Novel Hemoglobin UKB Demonstrates the Importance of Using Different Methods of Detection Clinica Chimica Acta; International Journal of Clinical Chemistry. Apr, 2014 | Pubmed ID: 24508630 Ancestral Resurrection of the Drosophila S2E Enhancer Reveals Accessible Evolutionary Paths Through Compensatory Change Molecular Biology and Evolution. Apr, 2014 | Pubmed ID: 24408913 Effect of Genetic Variation in a Drosophila Model of Diabetes-associated Misfolded Human Proinsulin Genetics. Feb, 2014 | Pubmed ID: 24281155 Genetic Complexity in a Drosophila Model of Diabetes-associated Misfolded Human Proinsulin Genetics. Feb, 2014 | Pubmed ID: 24281154 Whole-exome Resequencing Reveals Recessive Mutations in TRAP1 in Individuals with CAKUT and VACTERL Association Kidney International. Jun, 2014 | Pubmed ID: 24152966 Selective Proximal Renal Tubular Involvement and Dyslipidemia in Two Cousins with Oculocerebrorenal Syndrome of Lowe The Turkish Journal of Pediatrics. May-Jun, 2013 | Pubmed ID: 24217083 De Novo 13q Deletions in Two Patients with Mild Anorectal Malformations As Part of VATER/VACTERL and VATER/VACTERL-like Association and Analysis of EFNB2 in Patients with Anorectal Malformations American Journal of Medical Genetics. Part A. Dec, 2013 | Pubmed ID: 24038947 Candidate Gene Association Study Implicates P63 in the Etiology of Nonsyndromic Bladder-exstrophy-epispadias Complex Birth Defects Research. Part A, Clinical and Molecular Teratology. Dec, 2013 | Pubmed ID: 23913486 An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome International Journal of Molecular Medicine. Jul, 2013 | Pubmed ID: 23670161 CNV Analysis in Monozygotic Twin Pairs Discordant for Urorectal Malformations Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies. Aug, 2013 | Pubmed ID: 23659922 De Novo Microduplications at 1q41, 2q37.3, and 8q24.3 in Patients with VATER/VACTERL Association European Journal of Human Genetics : EJHG. Dec, 2013 | Pubmed ID: 23549274 Rearrangements of 2.5 Kilobases of Noncoding DNA from the Drosophila Even-skipped Locus Define Predictive Rules of Genomic Cis-regulatory Logic PLoS Genetics. 2013 | Pubmed ID: 23468638 Sex-specific Pattern Formation During Early Drosophila Development Genetics. May, 2013 | Pubmed ID: 23410834 Isolated Bladder Exstrophy Associated with a De Novo 0.9 Mb Microduplication on Chromosome 19p13.12 Birth Defects Research. Part A, Clinical and Molecular Teratology. Mar, 2013 | Pubmed ID: 23359465 Case-control Studies of Novel Hemoglobin Anomalies As Differential Diagnosis in Sleep Apnea Syndrome Sleep & Breathing = Schlaf & Atmung. May, 2013 | Pubmed ID: 22581484 Hemoglobin Andrew-Minneapolis: Hemolytic Erythrocytosis and Severe Iron Overload in Toxic Liver Cirrhosis Annals of Laboratory Medicine. Nov, 2012 | Pubmed ID: 23130348 Involvement of the WNT and FGF Signaling Pathways in Non-isolated Anorectal Malformations: Sequencing Analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T Gene International Journal of Molecular Medicine. Dec, 2012 | Pubmed ID: 22961180 VATER/VACTERL Association: Identification of Seven New Twin Pairs, a Systematic Review of the Literature, and a Classical Twin Analysis Clinical Dysmorphology. Oct, 2012 | Pubmed ID: 22895008 Malformation Risk in Subfertile Couples Reproductive Biomedicine Online. Sep, 2012 | Pubmed ID: 22795766 Murine Expression and Mutation Analyses of the Prostate Androgen-regulated Mucin-like Protein 1 (Parm1) Gene, a Candidate for Human Epispadias Gene. Sep, 2012 | Pubmed ID: 22766399 An Integrated View on the Luteal Phase: Diagnosis and Treatment in Subfertility Clinical Endocrinology. Oct, 2012 | Pubmed ID: 22702226 Identification of an Alu-mediated 12.2-kb Deletion of the Complete LPAR6 (P2RY5) Gene in a Turkish Family with Hypotrichosis and Woolly Hair Experimental Dermatology. Jun, 2012 | Pubmed ID: 22621192 Inheritance of the VATER/VACTERL Association Pediatric Surgery International. Jul, 2012 | Pubmed ID: 22581124 Deep Intronic APC Mutations Explain a Substantial Proportion of Patients with Familial or Early-onset Adenomatous Polyposis Human Mutation. Jul, 2012 | Pubmed ID: 22431159 Familial Occurrence of the VATER/VACTERL Association Pediatric Surgery International. Jul, 2012 | Pubmed ID: 22422375 A 14-year-old Boy with Chronic Cyanosis, Mild Anemia, and Limited Physical Resistance to Stress Clinical Chemistry. Feb, 2012 | Pubmed ID: 22287662 Nine New Twin Pairs with Esophageal Atresia: A Review of the Literature and Performance of a Twin Study of the Disorder Birth Defects Research. Part A, Clinical and Molecular Teratology. Jan, 2012 | Pubmed ID: 22287212 Liddle Syndrome in a Serbian Family and Literature Review of Underlying Mutations European Journal of Pediatrics. Mar, 2012 | Pubmed ID: 21956615 Hemoglobin Hasharon and Hemoglobin NYU in Subjects of German Origin Biochemia Medica. 2011 | Pubmed ID: 22420247 Consequences of Eukaryotic Enhancer Architecture for Gene Expression Dynamics, Development, and Fitness PLoS Genetics. Nov, 2011 | Pubmed ID: 22102826 Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome American Journal of Human Genetics. Nov, 2011 | Pubmed ID: 22077972 A Boy with Dent-2 Disease Collegium Antropologicum. Sep, 2011 | Pubmed ID: 22053580 Effect of Growth Hormone Replacement Therapy in a Boy with Dent's Disease: a Case Report Journal of Medical Case Reports. 2011 | Pubmed ID: 21859490 Phenotype Severity in the Bladder Exstrophy-epispadias Complex: Analysis of Genetic and Nongenetic Contributing Factors in 441 Families from North America and Europe The Journal of Pediatrics. Nov, 2011 | Pubmed ID: 21679965 Ovarian Stimulation: from Basic Science to Clinical Application Reproductive Biomedicine Online. Feb, 2011 | Pubmed ID: 21575847 A First Report on Hb Q-Iran in Association with Alpha-thalassemia in a Case of Spinal Ischemia Clinical Laboratory. 2011 | Pubmed ID: 21500730 Genome-wide Expression Profiling of Urinary Bladder Implicates Desmosomal and Cytoskeletal Dysregulation in the Bladder Exstrophy-epispadias Complex International Journal of Molecular Medicine. Jun, 2011 | Pubmed ID: 21431277 Novel Techniques and Newer Markers for the Evaluation of "proximal Tubular Dysfunction" International Urology and Nephrology. Dec, 2011 | Pubmed ID: 21360162 Resequencing and Follow-up of Neurexin 1 (NRXN1) in Schizophrenia Patients Schizophrenia Research. Apr, 2011 | Pubmed ID: 21288692 De Novo Duplication of 18p11.21-18q12.1 in a Female with Anorectal Malformation American Journal of Medical Genetics. Part A. Feb, 2011 | Pubmed ID: 21271671 Clinical and Laboratory Features of Macedonian Children with OCRL Mutations Pediatric Nephrology (Berlin, Germany). Apr, 2011 | Pubmed ID: 21249396 Maternal De Novo Triple Mosaicism for Two Single OCRL Nucleotide Substitutions (c.1736A>T, C.1736A>G) in a Lowe Syndrome Family Human Genetics. May, 2011 | Pubmed ID: 21225285 Evolution and Inheritance of Early Embryonic Patterning in Drosophila Simulans and D. Sechellia Evolution; International Journal of Organic Evolution. May, 2011 | Pubmed ID: 21121913 Disorders of the Renal Proximal Tubule Nephron. Physiology. 2011 | Pubmed ID: 21071982 Autosomal-dominant Non-syndromic Anal Atresia: Sequencing of Candidate Genes, Array-based Molecular Karyotyping, and Review of the Literature European Journal of Pediatrics. Jun, 2011 | Pubmed ID: 21042811 De Novo Microduplication at 22q11.21 in a Patient with VACTERL Association European Journal of Medical Genetics. Jan-Feb, 2011 | Pubmed ID: 20849991 Artificial Selection on Egg Size Perturbs Early Pattern Formation in Drosophila Melanogaster Evolution; International Journal of Organic Evolution. Jan, 2011 | Pubmed ID: 20636356 P63 (TP73L) a Key Player in Embryonic Urogenital Development with Significant Dysregulation in Human Bladder Exstrophy Tissue International Journal of Molecular Medicine. Dec, 2010 | Pubmed ID: 21042780 A Plan to Reduce Emergency Room 'boarding' of Psychiatric Patients Health Affairs (Project Hope). Sep, 2010 | Pubmed ID: 20820019 A Novel CLCN5 Mutation in a Boy with Bartter-like Syndrome and Partial Growth Hormone Deficiency Pediatric Nephrology (Berlin, Germany). Nov, 2010 | Pubmed ID: 20680351 Non-stereo-selective Cytosolic Human Brain Tissue 3-ketosteroid Reductase is Refractory to Inhibition by AKR1C Inhibitors Biochimica Et Biophysica Acta. Nov, 2010 | Pubmed ID: 20673851 Evidence for Linkage of the Bladder Exstrophy-epispadias Complex on Chromosome 4q31.21-22 and 19q13.31-41 from a Consanguineous Iranian Family Birth Defects Research. Part A, Clinical and Molecular Teratology. Sep, 2010 | Pubmed ID: 20672349 Embryonic Expression of the Cysteine Rich Protein 61 (CYR61) Gene: A Candidate for the Development of Human Epispadias Birth Defects Research. Part A, Clinical and Molecular Teratology. Jul, 2010 | Pubmed ID: 20641097 Microduplications at 22q11.21 Are Associated with Non-syndromic Classic Bladder Exstrophy European Journal of Medical Genetics. Mar-Apr, 2010 | Pubmed ID: 20060941 The Exstrophy-epispadias Complex Orphanet Journal of Rare Diseases. 2009 | Pubmed ID: 19878548 Dent-2 Disease: a Mild Variant of Lowe Syndrome The Journal of Pediatrics. Jul, 2009 | Pubmed ID: 19559295 Vitamin A Responsive Night Blindness in Dent's Disease Pediatric Nephrology (Berlin, Germany). Sep, 2009 | Pubmed ID: 19444483 A Novel CLCN7 Mutation Resulting in a Most Severe Form of Autosomal Recessive Osteopetrosis European Journal of Pediatrics. Dec, 2009 | Pubmed ID: 19238435 A Novel Melanocortin-4 Receptor Gene Mutation in a Female Patient with Severe Childhood Obesity Endocrine. Aug, 2009 | Pubmed ID: 19214805 Analysis of Drosophila Segmentation Network Identifies a JNK Pathway Factor Overexpressed in Kidney Cancer Science (New York, N.Y.). Feb, 2009 | Pubmed ID: 19164706 Bladder Exstrophy-epispadias Complex Birth Defects Research. Part A, Clinical and Molecular Teratology. Jun, 2009 | Pubmed ID: 19161161 Genome-wide Linkage Scan for Bladder Exstrophy-epispadias Complex Birth Defects Research. Part A, Clinical and Molecular Teratology. Feb, 2009 | Pubmed ID: 19086019 Are Adverse Outcomes Associated with Assisted Reproduction Related to the Technology or Couples' Subfertility? Nature Clinical Practice. Urology. Jan, 2009 | Pubmed ID: 19065138 Low Frequency of Imprinting Defects in ICSI Children Born Small for Gestational Age European Journal of Human Genetics : EJHG. Jan, 2009 | Pubmed ID: 18941474 Possible Association of Down Syndrome and Exstrophy-epispadias Complex: Report of Two New Cases and Review of the Literature European Journal of Pediatrics. Jul, 2009 | Pubmed ID: 18923839 Neuromotor Development and Mental Health at 5.5 Years of Age of Singletons Born at Term After Intracytoplasmatic Sperm Injection ICSI: Results of a Prospective Controlled Single-blinded Study in Germany Fertility and Sterility. Jan, 2009 | Pubmed ID: 18281037 Physical Health at 5.5 Years of Age of Term-born Singletons After Intracytoplasmic Sperm Injection: Results of a Prospective, Controlled, Single-blinded Study Fertility and Sterility. Jan, 2009 | Pubmed ID: 18206144 [Dent's Disease] Srpski Arhiv Za Celokupno Lekarstvo. Dec, 2008 | Pubmed ID: 20804101 Influence of Processing on Quality Parameters of Strawberries Journal of Agricultural and Food Chemistry. Oct, 2008 | Pubmed ID: 18821768 Deletion of Both ICAM-1 and C3 Enhances Severity of Experimental Autoimmune Encephalomyelitis Compared to C3-deficient Mice Neuroscience Letters. Sep, 2008 | Pubmed ID: 18634851 Investigation of FGF10 As a Candidate Gene in Patients with Anorectal Malformations and Exstrophy of the Cloaca Pediatric Surgery International. Aug, 2008 | Pubmed ID: 18587586 Comparative Study of Pulsed Electric Field and Thermal Processing of Apple Juice with Particular Consideration of Juice Quality and Enzyme Deactivation Journal of Agricultural and Food Chemistry. Jun, 2008 | Pubmed ID: 18494487 What Can We Expect if We Measure Hormones in Eumenorrhoeic Infertile Patients? Reproductive Biomedicine Online. May, 2008 | Pubmed ID: 18492364 Renal Phenotype in Lowe Syndrome: a Selective Proximal Tubular Dysfunction Clinical Journal of the American Society of Nephrology : CJASN. Sep, 2008 | Pubmed ID: 18480301 A Novel Hemoglobin, Bonn, Causes Falsely Decreased Oxygen Saturation Measurements in Pulse Oximetry Clinical Chemistry. Mar, 2008 | Pubmed ID: 18310146 Successful Assisted Reproduction in Adult Males with Bladder Extrophy-epispadias Complex European Journal of Obstetrics, Gynecology, and Reproductive Biology. Aug, 2008 | Pubmed ID: 17544202 Concordance Analyses of Twins with Bladder Exstrophy-epispadias Complex Suggest Genetic Etiology American Journal of Medical Genetics. Part A. Nov, 2007 | Pubmed ID: 17937426 Molecular Characterization of HOXA13 Polyalanine Expansion Proteins in Hand-foot-genital Syndrome American Journal of Medical Genetics. Part A. Dec, 2007 | Pubmed ID: 17935235 Genome-wide Analysis for Micro-aberrations in Familial Exstrophy of the Bladder Using Array-based Comparative Genomic Hybridization BJU International. Sep, 2007 | Pubmed ID: 17669146 Outcome of Assisted Reproduction Lancet (London, England). Jul, 2007 | Pubmed ID: 17662884 Canalization of Segmentation and Its Evolution in Drosophila Proceedings of the National Academy of Sciences of the United States of America. Jun, 2007 | Pubmed ID: 17569783 The Usefulness of a Thyrotropin-releasing Hormone Stimulation Test in Subfertile Female Patients Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology. Apr, 2007 | Pubmed ID: 17505943 Reproduction Abnormalities and Twin Pregnancies in Parents of Sporadic Patients with Oculo-auriculo-vertebral Spectrum/Goldenhar Syndrome Human Genetics. May, 2007 | Pubmed ID: 17297623 Is There a Need for Recombinant Human Luteinizing Hormone (lutropin Alfa) Supplementation in Ovarian Stimulation for Assisted Reproduction? Women's Health (London, England). May, 2006 | Pubmed ID: 19803909 Novel OCRL1 Mutations in Patients with the Phenotype of Dent Disease American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. Dec, 2006 | Pubmed ID: 17162149 Family-based Association Study of the MTHFR Polymorphism C677T in the Bladder-exstrophy-epispadias-complex American Journal of Medical Genetics. Part A. Nov, 2006 | Pubmed ID: 17041930 Distribution of Persistent Organochlorine Contaminants in Infertile Patients from Tanzania and Germany Journal of Assisted Reproduction and Genetics. Sep-Oct, 2006 | Pubmed ID: 17019632 Variant of the CHEK2 Gene As a Prognostic Marker in Glioblastoma Multiforme Neurosurgery. Nov, 2006 | Pubmed ID: 17016233 Bladder Exstrophy and Epstein Type Congenital Macrothrombocytopenia: Evidence for a Common Cause? American Journal of Medical Genetics. Part A. Oct, 2006 | Pubmed ID: 16969870 Recent Advances in Understanding the Clinical and Genetic Heterogeneity of Dent's Disease Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. Oct, 2006 | Pubmed ID: 16861240 Bladder Exstrophy-epispadias Complex: Investigation of Suppressor of Variegation, Enhancer of Zeste and Trithorax (SET) As a Candidate Gene in a Large Cohort of Patients Scandinavian Journal of Urology and Nephrology. 2006 | Pubmed ID: 16809264 Hypercalciuria in Patients with CLCN5 Mutations Pediatric Nephrology (Berlin, Germany). Sep, 2006 | Pubmed ID: 16807762 Association of a Polymorphism of the ACVRL1 Gene with Sporadic Arteriovenous Malformations of the Central Nervous System Journal of Neurosurgery. Jun, 2006 | Pubmed ID: 16776339 MTHFR 677 TT Genotype in a Mother and Her Child with Down Syndrome, Atrioventricular Canal and Exstrophy of the Bladder: Implications of a Mutual Genetic Risk Factor? European Journal of Pediatrics. Aug, 2006 | Pubmed ID: 16602006 Congenital Partial Atresia of the Fallopian Tube Reproductive Biomedicine Online. Feb, 2006 | Pubmed ID: 16478587 Is There an Association Between Septate Uterus and Endometriosis? Human Reproduction (Oxford, England). Feb, 2006 | Pubmed ID: 16210382 Intraamniotic Ethacridine Lactate Instillation Versus Vaginal PGE1 in Second Trimester Termination of Pregnancy European Journal of Obstetrics, Gynecology, and Reproductive Biology. Jun, 2006 | Pubmed ID: 16188373 Is There an Increased Risk of Malformations After Assisted Reproductive Technologies? Reproductive Biomedicine Online. Jun, 2005 | Pubmed ID: 23580985 Factors Influencing Response to Ovarian Stimulation Reproductive Biomedicine Online. Nov, 2005 | Pubmed ID: 16409704 Risk During Pregnancy and Birth After Assisted Reproductive Technologies: an Integral View of the Problem Seminars in Reproductive Medicine. Nov, 2005 | Pubmed ID: 16317625 The Process of Decision Making in Reproductive Medicine Seminars in Reproductive Medicine. Nov, 2005 | Pubmed ID: 16317623 R561C Missense Mutation in the SMARCAL1 Gene Associated with Mild Schimke Immuno-osseous Dysplasia Pediatric Nephrology (Berlin, Germany). Dec, 2005 | Pubmed ID: 16237566 Assisted Reproduction: the Epigenetic Perspective Human Reproduction Update. Sep-Oct, 2005 | Pubmed ID: 15994847 Spinal Cord Infarction Following Cervical Transforaminal Epidural Injection: a Case Report Spine. May, 2005 | Pubmed ID: 15897816 Functional Evaluation of Dent's Disease-causing Mutations: Implications for ClC-5 Channel Trafficking and Internalization Human Genetics. Jul, 2005 | Pubmed ID: 15895257 CLCN5 Mutation (R347X) Associated with Hypokalaemic Metabolic Alkalosis in a Turkish Child: an Unusual Presentation of Dent's Disease Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. Jul, 2005 | Pubmed ID: 15814539 Functional Evolution of a Cis-regulatory Module PLoS Biology. Apr, 2005 | Pubmed ID: 15757364 What is the 'ideal' Duration of Progesterone Supplementation Before the Transfer of Cryopreserved-thawed Embryos in Estrogen/progesterone Replacement Protocols? Human Reproduction (Oxford, England). May, 2005 | Pubmed ID: 15695314 A Novel Epithelial Sodium Channel Beta-subunit Mutation Associated with Hypertensive Liddle Syndrome Pediatric Nephrology (Berlin, Germany). Apr, 2005 | Pubmed ID: 15690192 Pseudohypoaldosteronism Type 1 and the Genes Encoding Prostasin, Alpha-spectrin, and Nedd4 International Journal of Molecular Medicine. Dec, 2004 | Pubmed ID: 15547682 Polyalanine Expansion in HOXA13: Three New Affected Families and the Molecular Consequences in a Mouse Model Human Molecular Genetics. Nov, 2004 | Pubmed ID: 15385446 Dent Disease-like Phenotype and the Chloride Channel ClC-4 (CLCN4) Gene American Journal of Medical Genetics. Part A. Aug, 2004 | Pubmed ID: 15264294 Development of Children Born After IVF and ICSI Reproductive Biomedicine Online. Jul, 2004 | Pubmed ID: 15257809 Pregnancy Course and Outcome After Intracytoplasmic Sperm Injection: a Controlled, Prospective Cohort Study Fertility and Sterility. Jun, 2004 | Pubmed ID: 15193484 Medical Management of Endometriosis: a Systematic Review IDrugs : the Investigational Drugs Journal. May, 2004 | Pubmed ID: 15154107 Steroid Sulfatase (STS) Expression in the Human Temporal Lobe: Enzyme Activity, MRNA Expression and Immunohistochemistry Study Journal of Neurochemistry. Apr, 2004 | Pubmed ID: 15056284 Dent Disease with Compound Heterozygous Mutations Leading to Severe Chronic Renal Failure in a Female Patient Pediatric Nephrology (Berlin, Germany). Jan, 2004 | Pubmed ID: 14648329 Does the Addition of Luteinizing Hormone in Ovarian Stimulation Protocols Improve the Outcome? Treatments in Endocrinology. 2003 | Pubmed ID: 15981947 Exclusion of WTAP and HOXA13 As Candidate Genes for Isolated Hypospadias Scandinavian Journal of Urology and Nephrology. 2003 | Pubmed ID: 14675924 Use of Clomiphene Citrate in in Vitro Fertilization (IVF) and IVF/intracytoplasmic Sperm Injection Cycles Fertility and Sterility. Dec, 2003 | Pubmed ID: 14667897 GnRH Antagonists in the Treatment of Infertility Annals of Medicine. 2003 | Pubmed ID: 14649333 Are Major Defects in Children Conceived in Vitro Due to Innate Problems in Patients or to Induced Genetic Damage? Reproductive Biomedicine Online. Sep, 2003 | Pubmed ID: 14567877 Nonsupplemented Luteal Phase Characteristics After the Administration of Recombinant Human Chorionic Gonadotropin, Recombinant Luteinizing Hormone, or Gonadotropin-releasing Hormone (GnRH) Agonist to Induce Final Oocyte Maturation in in Vitro Fertilization Patients After Ovarian Stimulation with Recombinant Follicle-stimulating Hormone and GnRH Antagonist Cotreatment The Journal of Clinical Endocrinology and Metabolism. Sep, 2003 | Pubmed ID: 12970285 Unilateral Follicular Aspiration and In-vitro Maturation Before Contralateral Oocyte Retrieval: a Method to Prevent Ovarian Hyperstimulation Syndrome European Journal of Obstetrics, Gynecology, and Reproductive Biology. Oct, 2003 | Pubmed ID: 12969581 Is Women's Health Endangered by the German Embryo Protection Law? Current Women's Health Reports. Oct, 2003 | Pubmed ID: 12959691 Characterisation of Estrogenic 17beta-hydroxysteroid Dehydrogenase (17beta-HSD) Activity in the Human Brain The Journal of Steroid Biochemistry and Molecular Biology. Jul, 2003 | Pubmed ID: 12943747 Four Additional CLCN5 Exons Encode a Widely Expressed Novel Long CLC-5 Isoform but Fail to Explain Dent's Phenotype in Patients Without Mutations in the Short Variant Kidney & Blood Pressure Research. 2003 | Pubmed ID: 12886045 Allopregnanolone Serum Levels and Expression of 5 Alpha-reductase and 3 Alpha-hydroxysteroid Dehydrogenase Isoforms in Hippocampal and Temporal Cortex of Patients with Epilepsy Epilepsy Research. Apr, 2003 | Pubmed ID: 12742591 Use of Recombinant Human Chorionic Gonadotropin in Ovulation Induction Fertility and Sterility. May, 2003 | Pubmed ID: 12738494 Identification of a Novel Mutation in the Human Mineralocorticoid Receptor Gene in a German Family with Autosomal-dominant Pseudohypoaldosteronism Type 1: Further Evidence for Marked Interindividual Clinical Heterogeneity The Journal of Clinical Endocrinology and Metabolism. Apr, 2003 | Pubmed ID: 12679457 Sperm to Zona Pellucida Binding Depends on the Use of a Gonadotropin-releasing Hormone Agonist or a Gonadotropin-releasing Hormone Antagonist Fertility and Sterility. Mar, 2003 | Pubmed ID: 12620461 Nanos Plays a Conserved Role in Axial Patterning Outside of the Diptera Current Biology : CB. Feb, 2003 | Pubmed ID: 12573218 Pregnancy Course and Health of Children Born After ICSI Depending on Parameters of Male Factor Infertility Human Reproduction (Oxford, England). Feb, 2003 | Pubmed ID: 12571173 Gonadotropin-releasing Hormone Antagonists: Pharmacology and Clinical Use in Women Treatments in Endocrinology. 2002 | Pubmed ID: 15832483 Germany Votes to Import Embryo Stem Cells Reproductive Biomedicine Online. May-Jun, 2002 | Pubmed ID: 12709287 Novel NCCT Gene Mutations As a Cause of Gitelman's Syndrome and a Systematic Review of Mutant and Polymorphic NCCT Alleles Kidney & Blood Pressure Research. 2002 | Pubmed ID: 12590198 Ovarian Stimulation: from Basic Science to Clinical Application Reproductive Biomedicine Online. 2002 | Pubmed ID: 12537786 Follow-up of Children Born After Assisted Reproductive Technologies Reproductive Biomedicine Online. Nov-Dec, 2002 | Pubmed ID: 12470533 Functional Evolution of Noncoding DNA Current Opinion in Genetics & Development. Dec, 2002 | Pubmed ID: 12433575 Malformation Rate in Fetuses and Children Conceived After ICSI: Results of a Prospective Cohort Study Reproductive Biomedicine Online. Sep-Oct, 2002 | Pubmed ID: 12419043 Characterization of the Dehydroepiandrosterone (DHEA) Metabolism Via Oxysterol 7alpha-hydroxylase and 17-ketosteroid Reductase Activity in the Human Brain Journal of Neurochemistry. Nov, 2002 | Pubmed ID: 12390533 A Novel Stable Polyalanine [poly(A)] Expansion in the HOXA13 Gene Associated with Hand-foot-genital Syndrome: Proper Function of Poly(A)-harbouring Transcription Factors Depends on a Critical Repeat Length? Human Genetics. May, 2002 | Pubmed ID: 12073020 The Use of Cryopreserved Mature and Immature Testicular Spermatozoa for Intracytoplasmic Sperm Injection: Risks and Limitations Seminars in Reproductive Medicine. Feb, 2002 | Pubmed ID: 11941532 Comparison of Cryopreservation Outcome with Gonadotropin-releasing Hormone Agonists or Antagonists in the Collecting Cycle Fertility and Sterility. Mar, 2002 | Pubmed ID: 11872197 Will Costs of ICSI Be Reimbursed for Patients in Germany? Reproductive Biomedicine Online. 2001 | Pubmed ID: 12537789 Fertilization Rate and Preimplantation Development After Intracytoplasmic Sperm Injection Reproductive Biomedicine Online. 2001 | Pubmed ID: 12513862 Impact of Intracytoplasmic Sperm Injection on the Activation and Fertilization Process of Oocytes Reproductive Biomedicine Online. 2001 | Pubmed ID: 12513861 Forward Genetic Approach to Uncover Stress Resistance Genes in Mice — A High-throughput Screen in ES Cells Michael Ludwig1, David Kitzenberg1, Wallace S. Chick1 1Department of Cell and Developmental Biology, University of Colorado Denver JoVE 53062 Developmental Biology
Forward Genetic Approach to Uncover Stress Resistance Genes in Mice — A High-throughput Screen in ES Cells Michael Ludwig1, David Kitzenberg1, Wallace S. Chick1 1Department of Cell and Developmental Biology, University of Colorado Denver JoVE 53062 Developmental Biology