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Results: 1-18 |
Results: 18
LOW INCIDENCE OF MICRODELETIONS AT THE 2ND DIGEORGE-SYNDROME LOCUS (10P13-14)
Authors: BARTSCH O SCHUFFENHAUER S WAGNER A LICHTNER P MURKEN J HINKEL GK
Citation: O. Bartsch et al., LOW INCIDENCE OF MICRODELETIONS AT THE 2ND DIGEORGE-SYNDROME LOCUS (10P13-14), European journal of human genetics, 6, 1998, pp. 1080-1080
DELETION MAPPING BY FISH WITH BACS IN PATIENTS WITH PARTIAL MONOSOMY 22Q13
Authors: SCHRODER K SCHUFFENHAUER S SEIDEL H BARTSCH O BLIN N HINKEL GK SCHMITT H
Citation: K. Schroder et al., DELETION MAPPING BY FISH WITH BACS IN PATIENTS WITH PARTIAL MONOSOMY 22Q13, Human genetics, 102(5), 1998, pp. 557-561
CALCIUM-METABOLISM AND GROWTH DURING EARLY TREATMENT OF CHILDREN WITHX-LINKED HYPOPHOSPHATEMIC RICKETS
Authors: KRUSE K HINKEL GK GRIEFAHN B
Citation: K. Kruse et al., CALCIUM-METABOLISM AND GROWTH DURING EARLY TREATMENT OF CHILDREN WITHX-LINKED HYPOPHOSPHATEMIC RICKETS, European journal of pediatrics, 157(11), 1998, pp. 894-900
SAFETY OF CYPROTERONE-ACETATE - REPORT OF ACTIVE SURVEILLANCE
Authors: HEINEMANN LAJ WILLSHAHAB L VANKESTEREN P GOOREN LJG QUAST A PIETSCH H KONRAD N HELGE H GRUTERS A KNAPPE G VENTZ M PRANGE G UBELHACK R BANASCHAK K CAVALLARI C MACRELLI S HINKEL GK JUSTUS B SAREMBE B ABUSCHENKO E MOESLER T SCHINDLER AE REGIDUR PA MADJIDIAN K BRAENDLE LW KLEINKAUFHOUCKEN A HORN HJ MICHEL W MORLOT M VEISMANN S ZIEGLER R KREMPIEN R ALENFELD F HEINRICH U SIPPELL WG WILLE R LASCHET R ALEXANDER H GLANDER HJ SCHWARZE I HOEPFFNER W DIEDRICH K SCHILL T HEISE HR LEHNERT H SCHLICHTHAAR H WEISE W GERLOFF C NICKEL I BURMANNREUTER H KRAUSE W FLOHR J PLEWIG G WOLF H SCHWARZ HP BECKER A SCHMIDT C SIEGELALMASRY E MIX M OTTERMANN B RANKE MB GRAUER ML TELLER W HOMOKI J WALDHAUSER F KAISER E BALJER E EIDEN R OTT F
Citation: Laj. Heinemann et al., SAFETY OF CYPROTERONE-ACETATE - REPORT OF ACTIVE SURVEILLANCE, Pharmacoepidemiology and drug safety, 6(3), 1997, pp. 169-178
A LARGE FAMILY WITH SUBTELOMERIC TRANSLOCATION T(18-21)(Q23-Q22.1) AND MOLECULAR BREAKPOINT IN THE DOWN-SYNDROME CRITICAL REGION
Authors: BARTSCH O HINKEL GK PETERSEN MB KONIG U BUGGE M MIKKELSEN M AVRAMOPOULOS D MORRIS M ANTONARAKIS SE
Citation: O. Bartsch et al., A LARGE FAMILY WITH SUBTELOMERIC TRANSLOCATION T(18-21)(Q23-Q22.1) AND MOLECULAR BREAKPOINT IN THE DOWN-SYNDROME CRITICAL REGION, Human genetics, 100(5-6), 1997, pp. 669-675
CUSTOMIZED PROBES FOR FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) - A UNIVERSAL AND FAST METHOD FOR PROBE SYNTHESIS FROM YACS, BACS, AND COSMIDS WITHOUT THE HANDLING OF MICROORGANISMS
Authors: REICHELT T SCHRODER W WAGNER A BARTSCH O HINKEL GK
Citation: T. Reichelt et al., CUSTOMIZED PROBES FOR FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) - A UNIVERSAL AND FAST METHOD FOR PROBE SYNTHESIS FROM YACS, BACS, AND COSMIDS WITHOUT THE HANDLING OF MICROORGANISMS, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 41-41
A SMALL DELETION OF 16Q23.1-]16Q24.2 [DEL(16)(Q23.1Q24.2).ISH DEL(16)(Q23.1Q24.2)(D16S395-, P5432+)] IN A BOY WITH IRIS COLOBOMA AND MINOR ANOMALIES(, D16S348)
Authors: WERNER W KRAFT S CALLEN DF BARTSCH O HINKEL GK
Citation: W. Werner et al., A SMALL DELETION OF 16Q23.1-]16Q24.2 [DEL(16)(Q23.1Q24.2).ISH DEL(16)(Q23.1Q24.2)(D16S395-, P5432+)] IN A BOY WITH IRIS COLOBOMA AND MINOR ANOMALIES(, D16S348), American journal of medical genetics, 70(4), 1997, pp. 371-376
OVERGROWTH AND RETARDED DEVELOPMENT ASSOCIATED WITH CHROMOSOME 22Q13 DELETION
Authors: HINKEL GK BARTSCH G BLIN N FRIEBEL D KLENGEL S KRAFT S SCHRODER K WERNER W
Citation: Gk. Hinkel et al., OVERGROWTH AND RETARDED DEVELOPMENT ASSOCIATED WITH CHROMOSOME 22Q13 DELETION, Monatsschrift fur Kinderheilkunde, 145(9), 1997, pp. 892-896
PSEUDOHYPOALDOSTERONISM - FAMILY STUDIES TO IDENTIFY ASYMPTOMATIC CARRIERS BY STIMULATION OF THE RENIN-ALDOSTERONE SYSTEM
Authors: KUHNLE U HINKEL GK HUBL W REICHELT T
Citation: U. Kuhnle et al., PSEUDOHYPOALDOSTERONISM - FAMILY STUDIES TO IDENTIFY ASYMPTOMATIC CARRIERS BY STIMULATION OF THE RENIN-ALDOSTERONE SYSTEM, Hormone research, 46(3), 1996, pp. 124-129
DELINEATION OF A CONTIGUOUS GENE SYNDROME WITH MULTIPLE EXOSTOSES, ENLARGED PARIETAL FORAMINA, CRANIOFACIAL DYSOSTOSIS, AND MENTAL-RETARDATION, CAUSED BY DELETIONS ON THE SHORT ARM OF CHROMOSOME-11
Authors: BARTSCH O WUYTS W VANHUL W HECHT JT MEINECKE P HOGUE D WERNER W ZABEL B HINKEL GK POWELL CM SHAFFER LG WILLEMS PJ
Citation: O. Bartsch et al., DELINEATION OF A CONTIGUOUS GENE SYNDROME WITH MULTIPLE EXOSTOSES, ENLARGED PARIETAL FORAMINA, CRANIOFACIAL DYSOSTOSIS, AND MENTAL-RETARDATION, CAUSED BY DELETIONS ON THE SHORT ARM OF CHROMOSOME-11, American journal of human genetics, 58(4), 1996, pp. 734-742
DNA, FISH AND COMPLEMENTATION STUDIES IN ICF SYNDROME - DNA HYPOMETHYLATION OF REPETITIVE AND SINGLE-COPY LOCI AND EVIDENCE FOR A TRANS-ACTING FACTOR
Authors: SCHUFFENHAUER S BARTSCH O STUMM M BUCHHOLZ T PETROPOULOU T KRAFT S BELOHRADSKY B HINKEL GK MEITINGER T WEGNER RD
Citation: S. Schuffenhauer et al., DNA, FISH AND COMPLEMENTATION STUDIES IN ICF SYNDROME - DNA HYPOMETHYLATION OF REPETITIVE AND SINGLE-COPY LOCI AND EVIDENCE FOR A TRANS-ACTING FACTOR, Human genetics, 96(5), 1995, pp. 562-571
A GERMAN FAMILY WITH 3 MEMBERS WITH A PARTIAL TRISOMY-21 AND A PARTIAL MONOSOMY 18 IN 2 GENERATIONS
Authors: KONIG U BARTSCH O BUGGE M HINKEL GK MIKKELSEN M PETERSEN MB
Citation: U. Konig et al., A GERMAN FAMILY WITH 3 MEMBERS WITH A PARTIAL TRISOMY-21 AND A PARTIAL MONOSOMY 18 IN 2 GENERATIONS, Cytogenetics and cell genetics, 70(3-4), 1995, pp. 166-166
FAMILIAL PSEUDOHYPOALDOSTERONISM - A REVIEW ON THE HETEROGENEITY OF THE SYNDROME
Authors: KUHNLE U HINKEL GK AKKURT HI KROZOWSKI Z
Citation: U. Kuhnle et al., FAMILIAL PSEUDOHYPOALDOSTERONISM - A REVIEW ON THE HETEROGENEITY OF THE SYNDROME, Steroids, 60(1), 1995, pp. 157-160
MOLECULAR DELINEATION OF A NEW CONTIGUOUS GENE SYNDROME WITH MULTIPLEEXOSTOSES ASSOCIATED WITH DELETIONS ON THE SHORT ARM OF CHROMOSOME-11
Authors: VANHUL W WUYTS W HECHT JT BARTSCH O MEINECKE P ZABEL B WERNER W HINKEL GK WILLEMS P
Citation: W. Vanhul et al., MOLECULAR DELINEATION OF A NEW CONTIGUOUS GENE SYNDROME WITH MULTIPLEEXOSTOSES ASSOCIATED WITH DELETIONS ON THE SHORT ARM OF CHROMOSOME-11, American journal of human genetics, 57(4), 1995, pp. 31-31
CLINICAL DESCRIPTION OF A NEW CONTIGUOUS GENE SYNDROME OF CHROMOSOME 11P WITH MULTIPLE EXOSTOSES, ENLARGED PARIETAL FORAMINA, MICROPENIS, AND MENTAL-RETARDATION
Authors: BARTSCH O HINKEL GK WERNER W MEINECKE P WUYTS W VANHUL W WILLEMS PJ
Citation: O. Bartsch et al., CLINICAL DESCRIPTION OF A NEW CONTIGUOUS GENE SYNDROME OF CHROMOSOME 11P WITH MULTIPLE EXOSTOSES, ENLARGED PARIETAL FORAMINA, MICROPENIS, AND MENTAL-RETARDATION, American journal of human genetics, 57(4), 1995, pp. 275-275
DNA METHYLATION ANALYSES OF SINGLE-COPY LOCI IN 2 PATIENTS WITH ICF SYNDROME
Authors: HORTNAGEL K SCHUFFENHAUER S PETROPOULOU T BUCHHOLZ B KRAFT S HINKEL GK BELOHRADSKY B MEITINGER T
Citation: K. Hortnagel et al., DNA METHYLATION ANALYSES OF SINGLE-COPY LOCI IN 2 PATIENTS WITH ICF SYNDROME, American journal of human genetics, 57(4), 1995, pp. 757-757
6 CASES OF 7P DELETION - CLINICAL, CYTOGENETIC, AND MOLECULAR STUDIES
Authors: CHOTAI KA BRUETON LA VANHERWERDEN L GARRETT C HINKEL GK SCHINZEL A MUELLER RF SPELEMAN F WINTER RM
Citation: Ka. Chotai et al., 6 CASES OF 7P DELETION - CLINICAL, CYTOGENETIC, AND MOLECULAR STUDIES, American journal of medical genetics, 51(3), 1994, pp. 270-276
TRANSIENT PSEUDOHYPOALDOSTERONISM IN OBSTRUCTIVE RENAL-DISEASE WITH TRANSIENT REDUCTION OF LYMPHOCYTIC ALDOSTERONE RECEPTORS - RESULTS IN 2AFFECTED INFANTS
Authors: KUHNLE U GUARISO G SONEGA M HINKEL GK HUBL W ARMANINI D
Citation: U. Kuhnle et al., TRANSIENT PSEUDOHYPOALDOSTERONISM IN OBSTRUCTIVE RENAL-DISEASE WITH TRANSIENT REDUCTION OF LYMPHOCYTIC ALDOSTERONE RECEPTORS - RESULTS IN 2AFFECTED INFANTS, Hormone research, 39(3-4), 1993, pp. 152-155
Risultati: 1-18 |