Michael Ludwig

Department of Cell and Developmental Biology, University of Colorado Denver

Affiliated withUniversity of Colorado Denver

Research Area

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title	2015

Other Publications

Article	Year
A boy with Dent-2 disease. Collegium antropologicum\| PubMed ID: 22053580	2011
Comparison of cryopreservation outcome with gonadotropin-releasing hormone agonists or antagonists in the collecting cycle. Fertility and sterility\| PubMed ID: 11872197	2002
The use of cryopreserved mature and immature testicular spermatozoa for intracytoplasmic sperm injection: risks and limitations. Seminars in reproductive medicine\| PubMed ID: 11941532	2002
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 critica... Human genetics\| PubMed ID: 12073020	2002
Characterization of the dehydroepiandrosterone (DHEA) metabolism via oxysterol 7alpha-hydroxylase and 17-ketosteroid reductase activity in the human brain. Journal of neurochemistry\| PubMed ID: 12390533	2002
Malformation rate in fetuses and children conceived after ICSI: results of a prospective cohort study. Reproductive biomedicine online\| PubMed ID: 12419043	2002
Functional evolution of noncoding DNA. Current opinion in genetics & development\| PubMed ID: 12433575	2002
Follow-up of children born after assisted reproductive technologies. Reproductive biomedicine online\| PubMed ID: 12470533	2002
Impact of intracytoplasmic sperm injection on the activation and fertilization process of oocytes. Reproductive biomedicine online\| PubMed ID: 12513861	2001
Fertilization rate and preimplantation development after intracytoplasmic sperm injection. Reproductive biomedicine online\| PubMed ID: 12513862	2001
Ovarian stimulation: from basic science to clinical application. Reproductive biomedicine online\| PubMed ID: 12537786	2002
Will costs of ICSI be reimbursed for patients in Germany? Reproductive biomedicine online\| PubMed ID: 12537789	2001
Pregnancy course and health of children born after ICSI depending on parameters of male factor infertility. Human reproduction (Oxford, England)\| PubMed ID: 12571173	2003
Nanos plays a conserved role in axial patterning outside of the Diptera. Current biology : CB\| PubMed ID: 12573218	2003
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\| PubMed ID: 12590198	2002
Sperm to zona pellucida binding depends on the use of a gonadotropin-releasing hormone agonist or a gonadotropin-releasing hormone antagonist. Fertility and sterility\| PubMed ID: 12620461	2003
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 interin... The Journal of clinical endocrinology and metabolism\| PubMed ID: 12679457	2003
Germany votes to import embryo stem cells. Reproductive biomedicine online\| PubMed ID: 12709287	2002
Use of recombinant human chorionic gonadotropin in ovulation induction. Fertility and sterility\| PubMed ID: 12738494	2003
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\| PubMed ID: 12742591	2003
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\| PubMed ID: 12886045	2003
Characterisation of estrogenic 17beta-hydroxysteroid dehydrogenase (17beta-HSD) activity in the human brain. The Journal of steroid biochemistry and molecular biology\| PubMed ID: 12943747	2003
Is women's health endangered by the German Embryo Protection Law? Current women's health reports\| PubMed ID: 12959691	2003
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\| PubMed ID: 12969581	2003
Nonsupplemented luteal phase characteristics after the administration of recombinant human chorionic gonadotropin, recombinant luteinizing hormone, or gonadotropin-releasing hormone (GnRH) a... The Journal of clinical endocrinology and metabolism\| PubMed ID: 12970285	2003
Are major defects in children conceived in vitro due to innate problems in patients or to induced genetic damage? Reproductive biomedicine online\| PubMed ID: 14567877	2003
Dent disease with compound heterozygous mutations leading to severe chronic renal failure in a female patient. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 14648329	2004
GnRH antagonists in the treatment of infertility. Annals of medicine\| PubMed ID: 14649333	2003
Use of clomiphene citrate in in vitro fertilization (IVF) and IVF/intracytoplasmic sperm injection cycles. Fertility and sterility\| PubMed ID: 14667897	2003
Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias. Scandinavian journal of urology and nephrology\| PubMed ID: 14675924	2003
Steroid sulfatase (STS) expression in the human temporal lobe: enzyme activity, mRNA expression and immunohistochemistry study. Journal of neurochemistry\| PubMed ID: 15056284	2004
Medical management of endometriosis: a systematic review. IDrugs : the investigational drugs journal\| PubMed ID: 15154107	2004
Pregnancy course and outcome after intracytoplasmic sperm injection: a controlled, prospective cohort study. Fertility and sterility\| PubMed ID: 15193484	2004
Development of children born after IVF and ICSI. Reproductive biomedicine online\| PubMed ID: 15257809	2004
Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene. American journal of medical genetics. Part A\| PubMed ID: 15264294	2004
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Human molecular genetics\| PubMed ID: 15385446	2004
Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. International journal of molecular medicine\| PubMed ID: 15547682	2004
A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 15690192	2005
What is the 'ideal' duration of progesterone supplementation before the transfer of cryopreserved-thawed embryos in estrogen/progesterone replacement protocols? Human reproduction (Oxford, England)\| PubMed ID: 15695314	2005
Functional evolution of a cis-regulatory module. PLoS biology\| PubMed ID: 15757364	2005
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\| PubMed ID: 15814539	2005
Gonadotropin-releasing hormone antagonists: pharmacology and clinical use in women. Treatments in endocrinology\| PubMed ID: 15832483	2002
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. Human genetics\| PubMed ID: 15895257	2005
Spinal cord infarction following cervical transforaminal epidural injection: a case report. Spine\| PubMed ID: 15897816	2005
Does the addition of luteinizing hormone in ovarian stimulation protocols improve the outcome? Treatments in endocrinology\| PubMed ID: 15981947	2003
Assisted reproduction: the epigenetic perspective. Human reproduction update\| PubMed ID: 15994847	2005
Intraamniotic ethacridine lactate instillation versus vaginal PGE1 in second trimester termination of pregnancy. European journal of obstetrics, gynecology, and reproductive biology\| PubMed ID: 16188373	2006
Is there an association between septate uterus and endometriosis? Human reproduction (Oxford, England)\| PubMed ID: 16210382	2006
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 16237566	2005
The process of decision making in reproductive medicine. Seminars in reproductive medicine\| PubMed ID: 16317623	2005
Risk during pregnancy and birth after assisted reproductive technologies: an integral view of the problem. Seminars in reproductive medicine\| PubMed ID: 16317625	2005
Factors influencing response to ovarian stimulation. Reproductive biomedicine online\| PubMed ID: 16409704	2005
Congenital partial atresia of the Fallopian tube. Reproductive biomedicine online\| PubMed ID: 16478587	2006
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\| PubMed ID: 16602006	2006
Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. Journal of neurosurgery\| PubMed ID: 16776339	2006
Hypercalciuria in patients with CLCN5 mutations. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 16807762	2006
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\| PubMed ID: 16809264	2006
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\| PubMed ID: 16861240	2006
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? American journal of medical genetics. Part A\| PubMed ID: 16969870	2006
Variant of the CHEK2 gene as a prognostic marker in glioblastoma multiforme. Neurosurgery\| PubMed ID: 17016233	2006
Distribution of persistent organochlorine contaminants in infertile patients from Tanzania and Germany. Journal of assisted reproduction and genetics\| PubMed ID: 17019632	2006
Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex. American journal of medical genetics. Part A\| PubMed ID: 17041930	2006
Novel OCRL1 mutations in patients with the phenotype of Dent disease. American journal of kidney diseases : the official journal of the National Kidney Foundation\| PubMed ID: 17162149	2006
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Human genetics\| PubMed ID: 17297623	2007
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\| PubMed ID: 17505943	2007
Successful assisted reproduction in adult males with bladder extrophy-epispadias complex. European journal of obstetrics, gynecology, and reproductive biology\| PubMed ID: 17544202	2008
Canalization of segmentation and its evolution in Drosophila. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 17569783	2007
Outcome of assisted reproduction. Lancet (London, England)\| PubMed ID: 17662884	2007
Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization. BJU international\| PubMed ID: 17669146	2007
Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. American journal of medical genetics. Part A\| PubMed ID: 17935235	2007
Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. American journal of medical genetics. Part A\| PubMed ID: 17937426	2007
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\| PubMed ID: 18206144	2009
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 stud... Fertility and sterility\| PubMed ID: 18281037	2009
A novel hemoglobin, Bonn, causes falsely decreased oxygen saturation measurements in pulse oximetry. Clinical chemistry\| PubMed ID: 18310146	2008
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clinical journal of the American Society of Nephrology : CJASN\| PubMed ID: 18480301	2008
What can we expect if we measure hormones in eumenorrhoeic infertile patients? Reproductive biomedicine online\| PubMed ID: 18492364	2008
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\| PubMed ID: 18494487	2008
Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca. Pediatric surgery international\| PubMed ID: 18587586	2008
Deletion of both ICAM-1 and C3 enhances severity of experimental autoimmune encephalomyelitis compared to C3-deficient mice. Neuroscience letters\| PubMed ID: 18634851	2008
Influence of processing on quality parameters of strawberries. Journal of agricultural and food chemistry\| PubMed ID: 18821768	2008
Possible association of Down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature. European journal of pediatrics\| PubMed ID: 18923839	2009
Low frequency of imprinting defects in ICSI children born small for gestational age. European journal of human genetics : EJHG\| PubMed ID: 18941474	2009
Are adverse outcomes associated with assisted reproduction related to the technology or couples' subfertility? Nature clinical practice. Urology\| PubMed ID: 19065138	2009
Genome-wide linkage scan for bladder exstrophy-epispadias complex. Birth defects research. Part A, Clinical and molecular teratology\| PubMed ID: 19086019	2009
Bladder exstrophy-epispadias complex. Birth defects research. Part A, Clinical and molecular teratology\| PubMed ID: 19161161	2009
Analysis of Drosophila segmentation network identifies a JNK pathway factor overexpressed in kidney cancer. Science (New York, N.Y.)\| PubMed ID: 19164706	2009
A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity. Endocrine\| PubMed ID: 19214805	2009
A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis. European journal of pediatrics\| PubMed ID: 19238435	2009
Vitamin A responsive night blindness in Dent's disease. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 19444483	2009
Dent-2 disease: a mild variant of Lowe syndrome. The Journal of pediatrics\| PubMed ID: 19559295	2009
Is there a need for recombinant human luteinizing hormone (lutropin alfa) supplementation in ovarian stimulation for assisted reproduction? Women's health (London, England)\| PubMed ID: 19803909	2006
The exstrophy-epispadias complex. Orphanet journal of rare diseases\| PubMed ID: 19878548	2009
Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. European journal of medical genetics\| PubMed ID: 20060941	2010
Artificial selection on egg size perturbs early pattern formation in Drosophila melanogaster. Evolution; international journal of organic evolution\| PubMed ID: 20636356	2011
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\| PubMed ID: 20641097	2010
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\| PubMed ID: 20672349	2010
Non-stereo-selective cytosolic human brain tissue 3-ketosteroid reductase is refractory to inhibition by AKR1C inhibitors. Biochimica et biophysica acta\| PubMed ID: 20673851	2010
A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 20680351	2010
[Dent's disease]. Srpski arhiv za celokupno lekarstvo\| PubMed ID: 20804101	2008
A plan to reduce emergency room 'boarding' of psychiatric patients. Health affairs (Project Hope)\| PubMed ID: 20820019	2010
De novo microduplication at 22q11.21 in a patient with VACTERL association. European journal of medical genetics\| PubMed ID: 20849991	2011
p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue. International journal of molecular medicine\| PubMed ID: 21042780	2010
Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature. European journal of pediatrics\| PubMed ID: 21042811	2011
Disorders of the renal proximal tubule. Nephron. Physiology\| PubMed ID: 21071982	2011
Evolution and inheritance of early embryonic patterning in Drosophila simulans and D. sechellia. Evolution; international journal of organic evolution\| PubMed ID: 21121913	2011
Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. Human genetics\| PubMed ID: 21225285	2011
Clinical and laboratory features of Macedonian children with OCRL mutations. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 21249396	2011
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. American journal of medical genetics. Part A\| PubMed ID: 21271671	2011
Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients. Schizophrenia research\| PubMed ID: 21288692	2011
Novel techniques and newer markers for the evaluation of "proximal tubular dysfunction". International urology and nephrology\| PubMed ID: 21360162	2011
Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex. International journal of molecular medicine\| PubMed ID: 21431277	2011
A first report on Hb Q-Iran in association with alpha-thalassemia in a case of spinal ischemia. Clinical laboratory\| PubMed ID: 21500730	2011
Ovarian stimulation: from basic science to clinical application. Reproductive biomedicine online\| PubMed ID: 21575847	2011
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\| PubMed ID: 21679965	2011
Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report. Journal of medical case reports\| PubMed ID: 21859490	2011
Liddle syndrome in a Serbian family and literature review of underlying mutations. European journal of pediatrics\| PubMed ID: 21956615	2012
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. American journal of human genetics\| PubMed ID: 22077972	2011
Consequences of eukaryotic enhancer architecture for gene expression dynamics, development, and fitness. PLoS genetics\| PubMed ID: 22102826	2011
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\| PubMed ID: 22287212	2012
A 14-year-old boy with chronic cyanosis, mild anemia, and limited physical resistance to stress. Clinical chemistry\| PubMed ID: 22287662	2012
Hemoglobin Hasharon and hemoglobin NYU in subjects of German origin. Biochemia medica\| PubMed ID: 22420247	2011
Familial occurrence of the VATER/VACTERL association. Pediatric surgery international\| PubMed ID: 22422375	2012
Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis. Human mutation\| PubMed ID: 22431159	2012
Inheritance of the VATER/VACTERL association. Pediatric surgery international\| PubMed ID: 22581124	2012
Case-control studies of novel hemoglobin anomalies as differential diagnosis in sleep apnea syndrome. Sleep & breathing = Schlaf & Atmung\| PubMed ID: 22581484	2013
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\| PubMed ID: 22621192	2012
An integrated view on the luteal phase: diagnosis and treatment in subfertility. Clinical endocrinology\| PubMed ID: 22702226	2012
Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias. Gene\| PubMed ID: 22766399	2012
Malformation risk in subfertile couples. Reproductive biomedicine online\| PubMed ID: 22795766	2012
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clinical dysmorphology\| PubMed ID: 22895008	2012
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\| PubMed ID: 22961180	2012
Hemoglobin Andrew-Minneapolis: hemolytic erythrocytosis and severe iron overload in toxic liver cirrhosis. Annals of laboratory medicine\| PubMed ID: 23130348	2012
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\| PubMed ID: 23359465	2013
Sex-specific pattern formation during early Drosophila development. Genetics\| PubMed ID: 23410834	2013
Rearrangements of 2.5 kilobases of noncoding DNA from the Drosophila even-skipped locus define predictive rules of genomic cis-regulatory logic. PLoS genetics\| PubMed ID: 23468638	2013
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. European journal of human genetics : EJHG\| PubMed ID: 23549274	2013
Is there an increased risk of malformations after assisted reproductive technologies? Reproductive biomedicine online\| PubMed ID: 23580985	2005
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\| PubMed ID: 23659922	2013
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. International journal of molecular medicine\| PubMed ID: 23670161	2013
Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex. Birth defects research. Part A, Clinical and molecular teratology\| PubMed ID: 23913486	2013
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 malformat... American journal of medical genetics. Part A\| PubMed ID: 24038947	2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney international\| PubMed ID: 24152966	2014
Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe. The Turkish journal of pediatrics\| PubMed ID: 24217083	2013
Genetic complexity in a Drosophila model of diabetes-associated misfolded human proinsulin. Genetics\| PubMed ID: 24281154	2014
Effect of genetic variation in a Drosophila model of diabetes-associated misfolded human proinsulin. Genetics\| PubMed ID: 24281155	2014
Ancestral resurrection of the Drosophila S2E enhancer reveals accessible evolutionary paths through compensatory change. Molecular biology and evolution\| PubMed ID: 24408913	2014
Novel hemoglobin UKB demonstrates the importance of using different methods of detection. Clinica chimica acta; international journal of clinical chemistry\| PubMed ID: 24508630	2014
Clinical utility gene card for: Dent disease (Dent-1 and Dent-2). European journal of human genetics : EJHG\| PubMed ID: 24619144	2014
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\| PubMed ID: 24668915	2014
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region. Birth defects research. Part A, Clinical and molecular teratology\| PubMed ID: 24764164	2014
Naturally occurring deletions of hunchback binding sites in the even-skipped stripe 3+7 enhancer. PloS one\| PubMed ID: 24786295	2014
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\| PubMed ID: 24841934	2014
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 exstr... Human molecular genetics\| PubMed ID: 24852367	2014
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies. Birth defects research. Part A, Clinical and molecular teratology\| PubMed ID: 25131394	2014
Clinical utility gene card for: Lowe syndrome. European journal of human genetics : EJHG\| PubMed ID: 25182134	2015
Interactions between neutrophils and non-small cell lung cancer cells: enhancement of tumor proliferation and inflammatory mediator synthesis. Cancer immunology, immunotherapy : CII\| PubMed ID: 25186613	2014
Screening for stress-resistance mutations in the mouse. Frontiers in genetics\| PubMed ID: 25250048	2014
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\| PubMed ID: 25250690	2015
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 25480730	2015
Organoid models of human and mouse ductal pancreatic cancer. Cell\| PubMed ID: 25557080	2015
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy. PLoS genetics\| PubMed ID: 25763902	2015
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\| PubMed ID: 25775927	2015
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\| PubMed ID: 26010163	2015
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish. Human molecular genetics\| PubMed ID: 26105184	2015
Natural variation of the expression pattern of the segmentation gene even-skipped in melanogaster. Developmental biology\| PubMed ID: 26129990	2015
Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 26248470	2015
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. Human mutation\| PubMed ID: 26294094	2015
Dent disease in children: diagnostic and therapeutic considerations. Clinical nephrology\| PubMed ID: 26308078	2015