M Ludwig

Summary

Affiliation: University of Bonn
Country: Germany

Publications

  1. doi request reprint A novel hemoglobin, Bonn, causes falsely decreased oxygen saturation measurements in pulse oximetry
    Berndt Zur
    Department of Clinical Biochemistry and Division of Pediatric Cardiology, University of Bonn, Bonn, Germany
    Clin Chem 54:594-6. 2008
  2. pmc Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report
    Mira Samardzic
    Institute for Sick Children, Department of Endocrinology and Nephrology, Ljubljanska bb, 20 000 Podgorica, Montenegro
    J Med Case Reports 5:400. 2011
  3. doi request reprint Genome-wide linkage scan for bladder exstrophy-epispadias complex
    Michael Ludwig
    Department of Clinical Biochemistry and Pharmacology, University of Bonn, Sigmund Freud Strasse 25, Bonn
    Birth Defects Res A Clin Mol Teratol 85:174-8. 2009
  4. ncbi request reprint 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
    Michael Ludwig
    Department of Clinical Biochemistry, University of Bonn, Bonn, Germany
    Kidney Blood Press Res 26:176-84. 2003
  5. ncbi request reprint Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization
    Michael Ludwig
    Institut für Klinische Biochemie, Universitat Bonn, Sigmund Freud Strasse 25, 53105 Bonn, Germany
    Hum Genet 117:228-37. 2005
  6. ncbi request reprint Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease
    Michael Ludwig
    Department of Clinical Biochemistry, University of Bonn, Sigmund Freud Strasse 25, D 53105 Bonn, Germany
    Nephrol Dial Transplant 21:2708-17. 2006
  7. ncbi request reprint Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4
    Michael Ludwig
    Department of Clinical Biochemistry, University of Bonn, 53105 Bonn, Germany
    Int J Mol Med 14:1101-4. 2004
  8. doi request reprint Bladder exstrophy-epispadias complex
    Michael Ludwig
    Department of Clinical Chemistry and Pharmacology, University of Bonn, Sigmund Freud Str 25, Bonn D 53105, Germany
    Birth Defects Res A Clin Mol Teratol 85:509-22. 2009
  9. ncbi request reprint [Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)]
    M Ludwig
    Institut für Klinische Biochemie, Universitatsklinikum, Bonn
    Urologe A 44:1037-8, 1040-4. 2005
  10. ncbi request reprint Hypercalciuria in patients with CLCN5 mutations
    Michael Ludwig
    Department of Clinical Biochemistry, University of Bonn, Sigmund Freud Str 25, 53105, Bonn, Germany
    Pediatr Nephrol 21:1241-50. 2006

Collaborators

Detail Information

Publications73

  1. doi request reprint A novel hemoglobin, Bonn, causes falsely decreased oxygen saturation measurements in pulse oximetry
    Berndt Zur
    Department of Clinical Biochemistry and Division of Pediatric Cardiology, University of Bonn, Bonn, Germany
    Clin Chem 54:594-6. 2008
    ..Only after consultation with our laboratory was a hemoglobin variant suspected and investigated...
  2. pmc Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report
    Mira Samardzic
    Institute for Sick Children, Department of Endocrinology and Nephrology, Ljubljanska bb, 20 000 Podgorica, Montenegro
    J Med Case Reports 5:400. 2011
    ..abstract:..
  3. doi request reprint Genome-wide linkage scan for bladder exstrophy-epispadias complex
    Michael Ludwig
    Department of Clinical Biochemistry and Pharmacology, University of Bonn, Sigmund Freud Strasse 25, Bonn
    Birth Defects Res A Clin Mol Teratol 85:174-8. 2009
    ..However, no genetic or nongenetic factor has been identified so far. In this study, we sought risk loci by parametric and nonparametric linkage analysis, searching for homozygous segments, and more complex inherited loci, respectively...
  4. ncbi request reprint 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
    Michael Ludwig
    Department of Clinical Biochemistry, University of Bonn, Bonn, Germany
    Kidney Blood Press Res 26:176-84. 2003
    ..However, sequencing of CLCN5 exonic regions in some patients presenting with low-molecular-weight proteinuria and hypercalciuria - the hallmarks of Dent's disease - failed to identify causative mutations...
  5. ncbi request reprint Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization
    Michael Ludwig
    Institut für Klinische Biochemie, Universitat Bonn, Sigmund Freud Strasse 25, 53105 Bonn, Germany
    Hum Genet 117:228-37. 2005
    ..Our observations further imply that recruitment of ClC-5 to alternative routes (plasma membrane or early endosomes) in the trans-Golgi network is mediated via different signal sequences...
  6. ncbi request reprint Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease
    Michael Ludwig
    Department of Clinical Biochemistry, University of Bonn, Sigmund Freud Strasse 25, D 53105 Bonn, Germany
    Nephrol Dial Transplant 21:2708-17. 2006
  7. ncbi request reprint Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4
    Michael Ludwig
    Department of Clinical Biochemistry, University of Bonn, 53105 Bonn, Germany
    Int J Mol Med 14:1101-4. 2004
    ..This led us to investigate whether PHA1 can also be associated with mutations in some of these genes. Our data suggest that at least the prostasin gene might be excluded as a causative locus...
  8. doi request reprint Bladder exstrophy-epispadias complex
    Michael Ludwig
    Department of Clinical Chemistry and Pharmacology, University of Bonn, Sigmund Freud Str 25, Bonn D 53105, Germany
    Birth Defects Res A Clin Mol Teratol 85:509-22. 2009
    ..These published lines of evidence argue strongly that BEEC occurs as a result of strong genetic predisposition that is yet to be deciphered...
  9. ncbi request reprint [Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)]
    M Ludwig
    Institut für Klinische Biochemie, Universitatsklinikum, Bonn
    Urologe A 44:1037-8, 1040-4. 2005
    ..g., CHARGE association). Moreover, the low incidence of the BEEC requires close cooperation between clinicians in the operative and nonoperative specialties as well as geneticists for successful gene search...
  10. ncbi request reprint Hypercalciuria in patients with CLCN5 mutations
    Michael Ludwig
    Department of Clinical Biochemistry, University of Bonn, Sigmund Freud Str 25, 53105, Bonn, Germany
    Pediatr Nephrol 21:1241-50. 2006
    ..Therefore, a CLCN5 mutation should be considered irrespective of the presence of hypercalciuria in a patient with LMW proteinuria and one additional symptom of Dent disease...
  11. doi request reprint A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL
    S M Pasternack
    Institute für Humangenetik, University of Bonn, Sigmund Freud Strase 25, Bonn, Germany
    Klin Padiatr 225:29-33. 2013
    ..Western blotting from lymphocyte samples failed to detect OCRL protein even in controls.Our findings extend the phenotypic spectrum caused by OCRL mutations and illustrate that there may be selective organ involvement in Lowe syndrome...
  12. ncbi request reprint Genetic polymorphism of cathepsin D is strongly associated with the risk for developing sporadic Alzheimer's disease
    A Papassotiropoulos
    Department of Psychiatry, University of Bonn, Germany
    Neurosci Lett 262:171-4. 1999
    ..The odds ratio for subjects with the apolipoprotein E epsilon 4 and the cathepsin D*T allele was 5.9. Our data suggest that the cathepsin D genotype is strongly associated with the risk for Alzheimer's disease...
  13. ncbi request reprint Common polymorphisms in genes encoding the human mineralocorticoid receptor and the human amiloride-sensitive sodium channel
    M Ludwig
    Department of Clinical Biochemistry, University of Bonn, Germany
    J Steroid Biochem Mol Biol 64:227-30. 1998
    ..Eight new common polymorphisms were identified in these genes which may be useful in genotyping and linkage analysis...
  14. ncbi request reprint CYP2D6 polymorphism and tardive dyskinesia in schizophrenic patients
    P L Lohmann
    Department of Psychiatry, University of Bonn, Germany
    Pharmacopsychiatry 36:73-8. 2003
    ..In conclusion, our results provide no evidence for the contribution of CYP2D6 genotype to the development of TD in schizophrenic patients receiving long-term antipsychotic medication...
  15. pmc Somatic mosaicism in hemophilia A: a fairly common event
    M Leuer
    Department of Clinical Biochemistry, University of Bonn, Sigmund Freud Strasse 25, 53105 Bonn, Germany
    Am J Hum Genet 69:75-87. 2001
    ..As a consequence, risk assessment in genetic counseling should include consideration of the possibility of somatic mosaicism in families with apparently de novo mutations, especially families with the subtype of point mutations...
  16. ncbi request reprint Differential mRNA expression of the two mineralocorticoid receptor splice variants within the human brain: structure analysis of their different DNA binding domains
    L Wickert
    Departments of Clinical Biochemistry and Neurosurgery, University of Bonn, Medical Center, Germany
    J Neuroendocrinol 12:867-73. 2000
    ....
  17. ncbi request reprint Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias
    Boris Utsch
    Children s Hospital Medical Center, University of Bonn, Germany
    Scand J Urol Nephrol 37:498-501. 2003
    ....
  18. ncbi request reprint Neurotoxicity of 24-hydroxycholesterol, an important cholesterol elimination product of the brain, may be prevented by vitamin E and estradiol-17beta
    H Kolsch
    Department of Clinical Biochemistry, University of Bonn, Federal Republic of Germany
    J Neural Transm 108:475-88. 2001
    ..These in vitro data support the in vivo observed beneficial effects reported as circumstantial evidence of vitamin E and estradiol-17beta treatment in the prevention and therapy of neurodegenerative disease...
  19. ncbi request reprint Alternative splicing of the p15 cdk inhibitor in glioblastoma multiforme
    M Simon
    Neurochirurgische Klinik, Universitatskliniken Bonn, Germany
    Acta Neuropathol 102:167-74. 2001
    ..This novel mechanism of loss of p15 might complement alterations of the INK4a tumor suppressor gene in some glioblastomas, resulting in combined loss of p16, p15 and p14ARF...
  20. doi request reprint Carotid intima-media thickness and plaque volume changes following 2-year angiotensin II-receptor blockade. The Multicentre Olmesartan atherosclerosis Regression Evaluation (MORE) study
    Klaus O Stumpe
    University of Bonn, Centre of Preventive Medicine, Herwarthstrasse 36, D 53115 Bonn, Germany
    Ther Adv Cardiovasc Dis 1:97-106. 2007
    ....
  21. ncbi request reprint High-normal serum homocysteine concentrations are associated with an increased risk of early atherosclerotic carotid artery wall lesions in healthy subjects
    W A Willinek
    Medical University Policlinic Bonn, Germany
    J Hypertens 18:425-30. 2000
    ..We studied the relation of sonographically determined carotid intima-media wall thickness to serum homocysteine concentrations in asymptomatic, healthy subjects...
  22. ncbi request reprint Antihypertensive efficacy of olmesartan compared with other antihypertensive drugs
    K O Stumpe
    Department of Internal Medicine, University Clinic Bonn, Wilhelmstrasse 3537, 53111 Bonn, Germany
    J Hum Hypertens 16:S24-8. 2002
    ..In the longer term, compared with losartan, a lower percentage of olmesartan-treated patients required concomitant HCTZ after 12 weeks of therapy. Olmesartan was well tolerated in all studies...
  23. doi request reprint Possible association of Down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature
    Heiko Reutter
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Eur J Pediatr 168:881-3. 2009
    ..Here, we report on the co-occurrence of DS and EEC in two, so far, unreported cases and present a review of the literature. We suggest that EEC represents a rare but inherent part in the spectrum of DS-associated midline defects...
  24. ncbi request reprint Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex
    Heiko Reutter
    Department of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet A 140:2506-9. 2006
  25. ncbi request reprint Variant of the CHEK2 gene as a prognostic marker in glioblastoma multiforme
    Matthias Simon
    Department of Neurosurgery, University of Bonn, Sigmund Freud Strasse 25, 53105 Bonn, Germany
    Neurosurgery 59:1078-85; discussion 1085. 2006
    ..Patients with LFS experience a variety of cancers, including malignant astrocytomas. We investigated a potential role for a CHEK2 gene polymorphism in glioblastomas...
  26. ncbi request reprint Intraamniotic ethacridine lactate instillation versus vaginal PGE1 in second trimester termination of pregnancy
    Christoph Berg
    Department of Obstetrics and Prenatal Medicine, Center for Obstetrics and Gynecology, Rheinische Friedrich Wilhelms Universitat, Sigmund Freud Str 25, 53105 Bonn, Germany
    Eur J Obstet Gynecol Reprod Biol 126:193-6. 2006
    ..To report on our experience with intraamniotic injection of ethacridine lactate (EL) for second trimester termination of pregnancy (TOP) and to compare its effectiveness with vaginal PGE1 in this setting...
  27. ncbi request reprint Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology
    Heiko Reutter
    Department of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet A 143:2751-6. 2007
  28. ncbi request reprint Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization
    Heiko Reutter
    Department of Human Genetics, Rheinische Friedrich Wilhelms University, Bonn, Germany
    BJU Int 100:646-50. 2007
    ..We aimed to investigate a possible genetic basis of BEEC in a consanguineous kindred of Moroccan origin with three members showing the same phenotypic expression of BEEC...
  29. ncbi request reprint 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?
    Heiko Reutter
    Institute of Human Genetics, University of Bonn, Wilhelmstr 31, 53111, Bonn, and Department of Pediatric Surgery and Pediatric Urology, Children s Hospital, Koln, Germany
    Eur J Pediatr 165:566-8. 2006
    ..that the MTHFR 677TT could be a mutual genetic risk factor for the co-occurrence of trisomy 21 and midline defects, the risk of which may be reduced by periconceptional folic acid supplementation...
  30. ncbi request reprint Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system
    Matthias Simon
    Neurochirurgische Klinik and Institut für Klinische Biochemie, Universitatskliniken Bonn, Germany
    J Neurosurg 104:945-9. 2006
    ..The authors studied whether sequence variations in ACVRL1 or ENG are associated with the development of clinically sporadic arteriovenous dysplasias and aneurysms of the CNS...
  31. doi request reprint Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy
    Markus Draaken
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Eur J Med Genet 53:55-60. 2010
    ..Our findings extend the phenotypic spectrum of the 22q11.2 duplication syndrome, and indicate that this aberration predisposes to CBE with incomplete penetrance...
  32. ncbi request reprint 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?
    Boris Utsch
    Children s Hospital Medical Center, University of Bonn, Adenauerallee 119, 53113 Bonn, Germany
    Hum Genet 110:488-94. 2002
    ..The alanine tract elongation may prevent protein-protein interactions of the mutant HOXA13, thereby inducing a localized heterochrony in the sequence of distal limb and genitourinary development...
  33. doi request reprint Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family
    Heiko Reutter
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Birth Defects Res A Clin Mol Teratol 88:757-61. 2010
    ..In the present study, genome-wide linkage analysis was performed in a recently reported consanguineous Iranian multiplex family with an affected sibling pair: a female with epispadias and a male with classic exstrophy of the bladder...
  34. ncbi request reprint A first report on Hb Q-Iran in association with alpha-thalassemia in a case of spinal ischemia
    Berndt Zur
    Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany
    Clin Lab 57:221-4. 2011
    ..Hemoglobin Q-Iran is a rare variant which has not been described in association with alpha-thalassemia to date. We present the case of a Turkish patient who developed spinal ischemia...
  35. pmc Epidemiological survey of 214 families with bladder exstrophy-epispadias complex
    L Gambhir
    Department of Clinical Biochemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany
    J Urol 179:1539-43. 2008
    ..We sought to identify causative nongenetic and genetic risk factors for the bladder exstrophy-epispadias complex...
  36. ncbi request reprint X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset
    M Wichers
    Department of Clinical Biochemistry, University of Bonn, Germany
    Hum Genet 105:116-9. 1999
    ..However, intrafamiliar concordance could be observed with respect to the occurrence of adrenocortical insufficiency. This supports the idea of one (or more) additional gene(s) contributing to the phenotypic expression of ALD...
  37. ncbi request reprint Polymorphism in the cholesterol 24S-hydroxylase gene is associated with Alzheimer's disease
    Heike Kolsch
    Department of Psychiatry, University of Bonn, Sigmund Freud Strasse 25, 53105 Bonn, Germany
    Mol Psychiatry 7:899-902. 2002
    ..Our results indicate that the CYP46 gene locus may predispose to AD by increasing the 24S-hydroxycholesterol/cholesterol ratio in the brain...
  38. ncbi request reprint Genetic and molecular aspects of hypospadias
    B Utsch
    Children s Hospital Medical Centre, University of Bonn, Bonn, Germany
    Eur J Pediatr Surg 14:297-302. 2004
    ..In addition to an optimal documentation and acquisition of blood and tissue samples this requires a close cooperation between clinicians in the operative and non-operative specialties as well as geneticists...
  39. doi request reprint Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca
    Victoria Krüger
    Department of Clinical Chemistry and Pharmacology, University of Bonn, Sigmund Freud Str 25, 53105, Bonn, Germany
    Pediatr Surg Int 24:893-7. 2008
    ..Furthermore, it cannot be ruled out that other genes involved in the signalling pathway of FGF10 may contribute to the formation of these congenital malformations...
  40. doi request reprint Novel neurological and immunological targets for salicylate-based phytopharmaceuticals and for the anti-depressant imipramine
    G Ulrich-Merzenich
    Medizinische Poliklinik, Universitatsklinikum, Rheinische Friedrich Wilhelms Universitat Bonn, Germany
    Phytomedicine 19:930-9. 2012
    ....
  41. doi request reprint Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay
    M Refke
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Br J Dermatol 165:1127-32. 2011
    ..Patients are born with normal hair that is shed almost completely and irreversibly during the first weeks of life...
  42. ncbi request reprint Influence of CYP2D6 genotype and medication on the sparteine metabolic ratio of psychiatric patients
    P L Lohmann
    Department of Psychiatry and Psychotherapy, University of Bonn, Germany
    Eur J Clin Pharmacol 57:289-95. 2001
    ..To investigate the influence of CYP2D6 genotype and medication on the reliability of phenotyping in a naturalistic setting of psychiatric inpatients...
  43. ncbi request reprint Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel
    M Ludwig
    Dept of Clinical Biochemistry, University of Bonn, Germany
    Hum Genet 102:576-81. 1998
    ..In addition to the intron/exon boundaries, we have deciphered almost all the intron sequences and 475 bp of the CCAAT-less and TATA-less 5' flanking region...
  44. ncbi request reprint 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
    Heiko Reutter
    Department of Human Genetics, University of Bonn, Bonn, Germany
    Scand J Urol Nephrol 40:221-4. 2006
    ..Moreover, SET expression was detected in embryonic kidney...
  45. doi request reprint Embryonic expression of the cysteine rich protein 61 (CYR61) gene: A candidate for the development of human epispadias
    Markus Draaken
    Institute of Human Genetics, University of Bonn, Germany
    Birth Defects Res A Clin Mol Teratol 88:546-50. 2010
    ....
  46. pmc VATER/VACTERL Association: Evidence for the Role of Genetic Factors
    H Reutter
    Institute of Human Genetics, Children s Hospital, University of Bonn, Bonn, Germany Department of Neonatology, Children s Hospital, University of Bonn, Bonn, Germany
    Mol Syndromol 4:16-9. 2013
    ..The application of new genomic technologies such as high-resolution copy number variation studies or next-generation exome sequencing might lead to the identification of some of these causes...
  47. doi request reprint De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation
    E Bartels
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Cytogenet Genome Res 134:243-8. 2011
    ..However, this is the first report of an association between this complex chromosomal rearrangement and ARM...
  48. ncbi request reprint Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX
    M Ludwig
    Institute of Experimental Haematology and Blood Transfusion, Bonn, Germany
    Blood 79:1225-32. 1992
    ..Further, a part of the epitope for the above antibody was shown to be contained in the 231 to 265 residue segment of factor IX.(ABSTRACT TRUNCATED AT 400 WORDS)..
  49. ncbi request reprint Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles
    Annette Reissinger
    Department of Clinical Biochemistry, Medizinische Poliklinik, Division of Nephrology, University of Bonn, Germany
    Kidney Blood Press Res 25:354-62. 2002
    ..Until now, 55 different mutations have been reported and most of the families affected with GS exhibit autosomal recessive inheritance...
  50. ncbi request reprint Allopregnanolone serum levels and expression of 5 alpha-reductase and 3 alpha-hydroxysteroid dehydrogenase isoforms in hippocampal and temporal cortex of patients with epilepsy
    Birgit Stoffel-Wagner
    Department of Clinical Biochemistry, University of Bonn, Sigmund Freud Str 25, D 53105 Bonn, Germany
    Epilepsy Res 54:11-9. 2003
    ..These findings provide further molecular biological evidence for the formation and metabolism of neuroactive steroids in the human brain...
  51. ncbi request reprint Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model
    Jeffrey W Innis
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Hum Mol Genet 13:2841-51. 2004
    ..In vitro translation efficiency of the HOXA13(ALA28) protein was normal. Thus, loss of function is secondary to a reduction in the in vivo abundance of the expanded protein likely due to degradation...
  52. ncbi request reprint Is women's health endangered by the German Embryo Protection Law?
    Michael Ludwig
    Centre for Reproductive Medicine and Gynaecologic Endocrinology, Endokrinologikum Hamburg, Lornsenstrasse 6, 22767 Hamburg, Germany
    Curr Womens Health Rep 3:349-50. 2003
  53. pmc Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction
    Detlef Bockenhauer
    Department of Nephrology, Great Ormond Street Hospital, London, United Kingdom
    Clin J Am Soc Nephrol 3:1430-6. 2008
    ..Recently, mutations in OCRL were found to underlie some patients with Dent disease, characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. This phenotypic heterogeneity is poorly understood...
  54. ncbi request reprint Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene
    Michael Ludwig
    Am J Med Genet A 128:434-5. 2004
  55. ncbi request reprint R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia
    Arend Bokenkamp
    Department of Pediatrics, Vrije University Medical Center, Amsterdam, The Netherlands
    Pediatr Nephrol 20:1724-8. 2005
    ..The novel R561C missense mutation in our patient with mild SIOD is additional evidence for the genotype-phenotype correlation reported for SMARCAL1 mutations...
  56. ncbi request reprint Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome
    Boris Utsch
    Children Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 143:3161-8. 2007
    ....
  57. ncbi request reprint 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
    Felix G Riepe
    Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts University Kiel, Germany
    J Clin Endocrinol Metab 88:1683-6. 2003
    ..It remains to be elucidated whether other defects or polymorphisms in genes coding for regulatory proteins participating in sodium homeostasis are a cause of the heterogeneity of the clinical manifestations in autosomal dominant PHA1...
  58. ncbi request reprint Novel OCRL1 mutations in patients with the phenotype of Dent disease
    Boris Utsch
    Klinik mit Poliklinik für Kinder und Jugendliche, Universitat Erlangen Nurnberg, Erlangen, Germany
    Am J Kidney Dis 48:942.e1-14. 2006
    ..A recent study showed that defects in OCRL1, encoding a phosphatidylinositol 4,5-bisphosphate 5-phosphatase (Ocrl) and usually found mutated in patients with Lowe syndrome, also can provoke a Dent-like phenotype (Dent 2 disease)...
  59. ncbi request reprint Germany votes to import embryo stem cells
    Michael Ludwig
    Department of Gynecology and Obstetrics, University Clinic, Lubeck, Germany
    Reprod Biomed Online 4:311. 2002
  60. ncbi request reprint Malformation rate in fetuses and children conceived after ICSI: results of a prospective cohort study
    Michael Ludwig
    Division of Reproductive Medicine and Gynecologic Endocrinology, Department of Gynecology and Obstetrics, University Hospital, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Reprod Biomed Online 5:171-8. 2002
    ....
  61. ncbi request reprint Unilateral follicular aspiration and in-vitro maturation before contralateral oocyte retrieval: a method to prevent ovarian hyperstimulation syndrome
    Annika K Schroder
    Division of Reproductive Medicine, Department of Gynaecology and Obstetrics, Medical University of Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany
    Eur J Obstet Gynecol Reprod Biol 110:186-9. 2003
    ..Five women undergoing intracytoplasmatic sperm injection (ICSI) considered to be at high risk of developing an ovarian hyperstimulation syndrome (OHSS) from March to July 2002 underwent unilateral follicular aspiration...
  62. ncbi request reprint 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 fertilizatio
    Nicole G M Beckers
    Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands
    J Clin Endocrinol Metab 88:4186-92. 2003
    ..Hence, support of corpus luteum function remains mandatory after ovarian stimulation for IVF with GnRH antagonist cotreatment...
  63. ncbi request reprint Pregnancy course and outcome after intracytoplasmic sperm injection: a controlled, prospective cohort study
    Alexander Katalinic
    Institute of Cancer Epidemiology and Institute for Social Medicine, University of Lubeck, Lubeck, Germany
    Fertil Steril 81:1604-16. 2004
    ..To determine pregnancy course and major malformation rate after intracytoplasmic sperm injection (ICSI)...
  64. ncbi request reprint Use of clomiphene citrate in in vitro fertilization (IVF) and IVF/intracytoplasmic sperm injection cycles
    Klaus Fiedler
    Fertil Steril 80:1521-3. 2003
  65. ncbi request reprint Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
    Boris Utsch
    Department of Pediatrics, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:2251-3. 2006
  66. ncbi request reprint Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstr 55, 45122, Essen, Germany
    Hum Genet 121:369-76. 2007
    ..0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet (Maandschr Kindergeneeskd 36:352-367, 1968)...
  67. ncbi request reprint Successful assisted reproduction in adult males with bladder extrophy-epispadias complex
    Lisa Gambhir
    Eur J Obstet Gynecol Reprod Biol 139:259-60. 2008
  68. ncbi request reprint Risk during pregnancy and birth after assisted reproductive technologies: an integral view of the problem
    Michael Ludwig
    Endokrinologikum Hamburg, Zentrum für Hormon und Stoffwechselerkrankungen, Gynäkologische Endokrinologie und Reproduktionsmedizin, Hamburg, Germany
    Semin Reprod Med 23:363-70. 2005
    ..A long time to pregnancy with subsequent spontaneous pregnancy results in a similar risk profile as pregnancies following infertility treatment. This article discusses a possible pathogenetic model for these observations...
  69. ncbi request reprint CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease
    Nesrin Besbas
    Hacettepe University Faculty of Medicine, Department of Pediatric, Ankara, Turkey
    Nephrol Dial Transplant 20:1476-9. 2005
  70. ncbi request reprint A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome
    Michael Freundlich
    Department of Pediatrics, University of Miami, Miami, Florida, USA
    Pediatr Nephrol 20:512-5. 2005
    ..Liddle syndrome should be considered as a cause of hypertension in young children particularly with suppressed renin activity...
  71. pmc Distribution of persistent organochlorine contaminants in infertile patients from Tanzania and Germany
    Jürgen M Weiss
    Department of Obstetrics and Gynecology, University Clinic Luebeck, Ratzeburger Allee 160, D 23538, Luebeck, Germany
    J Assist Reprod Genet 23:393-9. 2006
    ..To test whether environmental pollutants could affect fertility in humans...
  72. ncbi request reprint Development of children born after IVF and ICSI
    Michael Ludwig
    Endokrinologikum Hamburg, Zentrum für Hormon und Stoffwechselerkrankungen, Gynäkologische Endokrinologie und Reproduktionsmedizin, Lornsenstrasse 6, 22767 Hamburg, Germany
    Reprod Biomed Online 9:10-2. 2004
    ..However, there are some limitations for all these follow-up studies, which have to be taken into account, when interpreting results. These are discussed in this commentary...
  73. ncbi request reprint Comparison of cryopreservation outcome with gonadotropin-releasing hormone agonists or antagonists in the collecting cycle
    Anna Sophie Seelig
    Department of Gynecology and Obstetrics, University Clinic Hospital, Lubeck, Germany
    Fertil Steril 77:472-5. 2002
    ....