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Results 1 to 25 of 42

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Recent advances in molecular genetics of hereditary magnesium-losing disordersKONRAD, Martin; WEBER, Stefanie.Journal of the American Society of Nephrology. 2003, Vol 14, Num 1, pp 249-260, issn 1046-6673, 12 p.Article

Insights into the molecular nature of magnesium homeostasisKONRAD, Martin; SCHLINGMANN, Karl P; GUDERMANN, Thomas et al.American journal of physiology. Renal physiology. 2004, Vol 55, Num 4, pp F599-F605, issn 1931-857XArticle

Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutationESTEBAN-OLIVA, Dolors; PINTOS-MORELL, Guillem; KONRAD, Martin et al.European journal of pediatrics. 2009, Vol 168, Num 4, pp 439-442, issn 0340-6199, 4 p.Article

Effects of PMCA2 mutation on DPOAE amplitudes and latencies in deafwaddler miceKONRAD-MARTIN, Dawn; NORTON, Susan J; MASCHER, Kelley E et al.Hearing research. 2001, Vol 151, Num 1-2, pp 205-220, issn 0378-5955Article

Development of single- and two-tone responses of anteroventral cochlear nucleus neurons in gerbilKONRAD-MARTIN, D. L; RÜBSAMEN, R; DÖRRSCHEIDT, G. J et al.Hearing research. 1998, Vol 121, Num 1-2, pp 35-52, issn 0378-5955Article

CLDN16 Genotype Predicts Renal Decline in Familial Hypomagnesemia with Hypercalciuria and NephrocalcinosisKONRAD, Martin; JIANGHUI HOU; ALSHAYA, Hammad O et al.Journal of the American Society of Nephrology. 2008, Vol 19, Num 1, pp 171-181, issn 1046-6673, 11 p.Article

Hydrochlorothiazide in CLDN16 mutationZIMMERMANN, Bettina; PLANK, Christian; KONRAD, Martin et al.Nephrology, dialysis, transplantation (Print). 2006, Vol 21, Num 8, pp 2127-2132, issn 0931-0509, 6 p.Article

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)BERGMANN, Carsten; SENDEREK, Jan; SEEMAN, Tomas et al.Kidney international. 2005, Vol 67, Num 3, pp 829-848, issn 0085-2538, 20 p.Article

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemiaSCHLINGMANN, Karl P; SASSEN, Martin C; METZGER, Daniel L et al.Journal of the American Society of Nephrology. 2005, Vol 16, Num 10, pp 3061-3069, issn 1046-6673, 9 p.Article

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvementKONRAD, Martin; SCHALLER, André; SCHLINGMANN, Karl P et al.American journal of human genetics. 2006, Vol 79, Num 5, pp 949-957, issn 0002-9297, 9 p.Article

Growth failure in a girl with Fanconi syndrome and growth hormone deficiencyPLANK, Christian; KONRAD, Martin; DÖRR, Helmut G et al.Nephrology, dialysis, transplantation (Print). 2004, Vol 19, Num 7, pp 1910-1912, issn 0931-0509, 3 p.Article

Mutations in the chloride channel gene, CLCNKB, leading to a mixed bartter-gitelman phenotypeJECK, Nikola; KONRAD, Martin; PETERS, Melanie et al.Pediatric research. 2000, Vol 48, Num 6, pp 754-758, issn 0031-3998Article

An Outbreak of Shiga Toxin―Producing Escherichia coli O104:H4 Hemolytic Uremic Syndrome in Germany: Presentation and Shortterm Outcome in ChildrenLOOS, Sebastian; AHLENSTIEL, Thurid; BERINGER, Ortraud et al.Clinical infectious diseases. 2012, Vol 55, Num 6, pp 753-759, issn 1058-4838, 7 p.Article

Late-onset manifestation of antenatal bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporterPRESSLER, Carsten A; HEINZINGER, Jolanta; JECK, Nikola et al.Journal of the American Society of Nephrology. 2006, Vol 17, Num 8, pp 2136-2142, issn 1046-6673, 7 p.Article

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene familySCHLINGMANN, Karl P; WEBER, Stefanie; SYRROU, Maria et al.Nature genetics. 2002, Vol 31, Num 2, pp 166-170, issn 1061-4036Article

CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT)BROCKSCHMIDT, Antje; CHUN, Boidinh; KONRAD, Martin et al.Nephrology, dialysis, transplantation (Print). 2012, Vol 27, Num 6, pp 2355-2364, issn 0931-0509, 10 p.Article

Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genesGURAN, Tulay; AKCAY, Teoman; BEREKET, Abdullah et al.Nephrology, dialysis, transplantation (Print). 2012, Vol 27, Num 2, pp 667-673, issn 0931-0509, 7 p.Article

Mutations in CYP24A1 and Idiopathic Infantile HypercalcemiaSCHLINGMANN, Karl P; KAUFMANN, Martin; WINGEN, Anne M et al.The New England journal of medicine. 2011, Vol 365, Num 5, pp 410-421, issn 0028-4793, 12 p.Article

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like SyndromeWEBER, Stefanie; THIELE, Holger; STUART, Helen M et al.American journal of human genetics. 2011, Vol 89, Num 5, pp 668-674, issn 0002-9297, 7 p.Article

Evaluation of long-term treatment with indomethacin in hereditary hypokalemic salt-losing tubulopathiesREINALTER, Stephan C; GRÖNE, Hermann-Josef; KONRAD, Martin et al.The Journal of pediatrics. 2001, Vol 139, Num 3, pp 398-406, issn 0022-3476Article

Antenatal Bartter syndrome with sensorineural deafness : refinement of the locus on chromosome 1p31VOLLMER, Martin; JECK, Nikola; ANTIGNAC, Corinne et al.Nephrology, dialysis, transplantation (Print). 2000, Vol 15, Num 7, pp 970-974, issn 0931-0509Article

The diuretic- and Bartter-like salt-losing tubulopathiesJECK, Nikola; KONRAD, Martin; HESS, Melanie et al.Nephrology, dialysis, transplantation (Print). 2000, Vol 15, pp 19-20, issn 0931-0509, SUP6Conference Paper

Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancyGROSS, Oliver; LICHT, Christoph; KONRAD, Martin et al.Kidney international. 2012, Vol 81, Num 5, pp 494-501, issn 0085-2538, 8 p.Article

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronLOUIS-DIT-PICARD, Hélène; BARC, Julien; VIDAL-PETIOT, Emmanuelle et al.Nature genetics. 2012, Vol 44, Num 4, pp 456-460, issn 1061-4036, 5 p.Article

Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathiesPETERS, Melanie; JECK, Nikola; REINALTER, Stephan et al.The American journal of medicine. 2002, Vol 112, Num 3, pp 183-190, issn 0002-9343Article

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