Michael Ludwig

A boy with Dent-2 disease.

Comparison of cryopreservation outcome with gonadotropin-releasing hormone agonists or antagonists in the collecting cycle.

The use of cryopreserved mature and immature testicular spermatozoa for intracytoplasmic sperm injection: risks and limitations.

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?

Characterization of the dehydroepiandrosterone (DHEA) metabolism via oxysterol 7alpha-hydroxylase and 17-ketosteroid reductase activity in the human brain.

Malformation rate in fetuses and children conceived after ICSI: results of a prospective cohort study.

Functional evolution of noncoding DNA.

Follow-up of children born after assisted reproductive technologies.

Impact of intracytoplasmic sperm injection on the activation and fertilization process of oocytes.

Fertilization rate and preimplantation development after intracytoplasmic sperm injection.

Ovarian stimulation: from basic science to clinical application.

Will costs of ICSI be reimbursed for patients in Germany?

Pregnancy course and health of children born after ICSI depending on parameters of male factor infertility.

Nanos plays a conserved role in axial patterning outside of the Diptera.

Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.

Sperm to zona pellucida binding depends on the use of a gonadotropin-releasing hormone agonist or a gonadotropin-releasing hormone antagonist.

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.

Germany votes to import embryo stem cells.

Use of recombinant human chorionic gonadotropin in ovulation induction.

Allopregnanolone serum levels and expression of 5 alpha-reductase and 3 alpha-hydroxysteroid dehydrogenase isoforms in hippocampal and temporal cortex of patients with epilepsy.

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.

Characterisation of estrogenic 17beta-hydroxysteroid dehydrogenase (17beta-HSD) activity in the human brain.

Is women's health endangered by the German Embryo Protection Law?

Unilateral follicular aspiration and in-vitro maturation before contralateral oocyte retrieval: a method to prevent ovarian hyperstimulation syndrome.

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.

Are major defects in children conceived in vitro due to innate problems in patients or to induced genetic damage?

Dent disease with compound heterozygous mutations leading to severe chronic renal failure in a female patient.

GnRH antagonists in the treatment of infertility.

Use of clomiphene citrate in in vitro fertilization (IVF) and IVF/intracytoplasmic sperm injection cycles.

Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias.

Steroid sulfatase (STS) expression in the human temporal lobe: enzyme activity, mRNA expression and immunohistochemistry study.

Medical management of endometriosis: a systematic review.

Pregnancy course and outcome after intracytoplasmic sperm injection: a controlled, prospective cohort study.

Development of children born after IVF and ICSI.

Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene.

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.

Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4.

A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome.

What is the 'ideal' duration of progesterone supplementation before the transfer of cryopreserved-thawed embryos in estrogen/progesterone replacement protocols?

Functional evolution of a cis-regulatory module.

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease.

Gonadotropin-releasing hormone antagonists: pharmacology and clinical use in women.

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

Spinal cord infarction following cervical transforaminal epidural injection: a case report.

Does the addition of luteinizing hormone in ovarian stimulation protocols improve the outcome?

Assisted reproduction: the epigenetic perspective.

Intraamniotic ethacridine lactate instillation versus vaginal PGE1 in second trimester termination of pregnancy.

Is there an association between septate uterus and endometriosis?

R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.

The process of decision making in reproductive medicine.

Risk during pregnancy and birth after assisted reproductive technologies: an integral view of the problem.

Factors influencing response to ovarian stimulation.

Congenital partial atresia of the Fallopian tube.

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?

Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system.

Hypercalciuria in patients with CLCN5 mutations.

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.

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease.

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

Variant of the CHEK2 gene as a prognostic marker in glioblastoma multiforme.

Distribution of persistent organochlorine contaminants in infertile patients from Tanzania and Germany.

Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex.

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome.

The usefulness of a thyrotropin-releasing hormone stimulation test in subfertile female patients.

Successful assisted reproduction in adult males with bladder extrophy-epispadias complex.

Canalization of segmentation and its evolution in Drosophila.

Outcome of assisted reproduction.

Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization.

Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.

Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology.

Physical health at 5.5 years of age of term-born singletons after intracytoplasmic sperm injection: results of a prospective, controlled, single-blinded study.

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.

A novel hemoglobin, Bonn, causes falsely decreased oxygen saturation measurements in pulse oximetry.

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.

What can we expect if we measure hormones in eumenorrhoeic infertile patients?

Comparative study of pulsed electric field and thermal processing of apple juice with particular consideration of juice quality and enzyme deactivation.

Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca.

Deletion of both ICAM-1 and C3 enhances severity of experimental autoimmune encephalomyelitis compared to C3-deficient mice.

Influence of processing on quality parameters of strawberries.

Possible association of Down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature.

Low frequency of imprinting defects in ICSI children born small for gestational age.

Are adverse outcomes associated with assisted reproduction related to the technology or couples' subfertility?

Genome-wide linkage scan for bladder exstrophy-epispadias complex.

Bladder exstrophy-epispadias complex.

Analysis of Drosophila segmentation network identifies a JNK pathway factor overexpressed in kidney cancer.

A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity.

A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.

Vitamin A responsive night blindness in Dent's disease.

Dent-2 disease: a mild variant of Lowe syndrome.

Is there a need for recombinant human luteinizing hormone (lutropin alfa) supplementation in ovarian stimulation for assisted reproduction?

The exstrophy-epispadias complex.

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.

Artificial selection on egg size perturbs early pattern formation in Drosophila melanogaster.

Embryonic expression of the cysteine rich protein 61 (CYR61) gene: A candidate for the development of human epispadias.

Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family.

Non-stereo-selective cytosolic human brain tissue 3-ketosteroid reductase is refractory to inhibition by AKR1C inhibitors.

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.

[Dent's disease].

A plan to reduce emergency room 'boarding' of psychiatric patients.

De novo microduplication at 22q11.21 in a patient with VACTERL association.

p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue.

Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.

Disorders of the renal proximal tubule.

Evolution and inheritance of early embryonic patterning in Drosophila simulans and D. sechellia.

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.

Clinical and laboratory features of Macedonian children with OCRL mutations.

De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.

Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients.

Novel techniques and newer markers for the evaluation of "proximal tubular dysfunction".

Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex.

A first report on Hb Q-Iran in association with alpha-thalassemia in a case of spinal ischemia.

Ovarian stimulation: from basic science to clinical application.

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.

Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report.

Liddle syndrome in a Serbian family and literature review of underlying mutations.

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Consequences of eukaryotic enhancer architecture for gene expression dynamics, development, and fitness.

Nine new twin pairs with esophageal atresia: A review of the literature and performance of a twin study of the disorder.

A 14-year-old boy with chronic cyanosis, mild anemia, and limited physical resistance to stress.

Hemoglobin Hasharon and hemoglobin NYU in subjects of German origin.

Familial occurrence of the VATER/VACTERL association.

Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

Inheritance of the VATER/VACTERL association.

Case-control studies of novel hemoglobin anomalies as differential diagnosis in sleep apnea syndrome.

Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair.

An integrated view on the luteal phase: diagnosis and treatment in subfertility.

Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias.

Malformation risk in subfertile couples.

VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.

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.

Hemoglobin Andrew-Minneapolis: hemolytic erythrocytosis and severe iron overload in toxic liver cirrhosis.

Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.

Sex-specific pattern formation during early Drosophila development.

Rearrangements of 2.5 kilobases of noncoding DNA from the Drosophila even-skipped locus define predictive rules of genomic cis-regulatory logic.

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.

Is there an increased risk of malformations after assisted reproductive technologies?

CNV analysis in monozygotic twin pairs discordant for urorectal malformations.

An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome.

Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex.

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.

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.

Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.

Genetic complexity in a Drosophila model of diabetes-associated misfolded human proinsulin.

Effect of genetic variation in a Drosophila model of diabetes-associated misfolded human proinsulin.

Ancestral resurrection of the Drosophila S2E enhancer reveals accessible evolutionary paths through compensatory change.

Novel hemoglobin UKB demonstrates the importance of using different methods of detection.

Clinical utility gene card for: Dent disease (Dent-1 and Dent-2).

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.

Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region.

Naturally occurring deletions of hunchback binding sites in the even-skipped stripe 3+7 enhancer.

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.

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.

Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.

Clinical utility gene card for: Lowe syndrome.

Interactions between neutrophils and non-small cell lung cancer cells: enhancement of tumor proliferation and inflammatory mediator synthesis.

Screening for stress-resistance mutations in the mouse.

Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities.

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

Organoid models of human and mouse ductal pancreatic cancer.

Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.

Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.

Investigation of the role of TCF4 rare sequence variants in schizophrenia.

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

Natural variation of the expression pattern of the segmentation gene even-skipped in melanogaster.

Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.

Dent disease in children: diagnostic and therapeutic considerations.