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Results: 1-19 |
Results: 19
CHARACTERIZATION OF A NOVEL PROTEIN-KINASE-C RESPONSE ELEMENT IN THE GLUCAGON GENE
Authors: FURSTENAU U SCHWANINGER M BLUME R KENNERKNECHT I KNEPEL W
Citation: U. Furstenau et al., CHARACTERIZATION OF A NOVEL PROTEIN-KINASE-C RESPONSE ELEMENT IN THE GLUCAGON GENE, Molecular and cellular biology, 17(4), 1997, pp. 1805-1816
XX-AGONADISM IN A FETUS WITH MULTIPLE DYSRAPHIC LESIONS - A NEW SYNDROME
Authors: KENNERKNECHT I MATTFELDT T PAULUS W NITSCH C NEGRI G BARBI G JUST W SCHWEMMLE S VOGEL W
Citation: I. Kennerknecht et al., XX-AGONADISM IN A FETUS WITH MULTIPLE DYSRAPHIC LESIONS - A NEW SYNDROME, American journal of medical genetics, 70(4), 1997, pp. 413-414
CUTIS-TRICOLOR - CONGENITAL HYPERPIGMENTED AND HYPOPIGMENTED MACULES ASSOCIATED WITH A SPORADIC MULTISYSTEM BIRTH-DEFECT - AN UNUSUAL EXAMPLE OF TWIN SPOTTING
Authors: HAPPLE R BARBI G ECKERT D KENNERKNECHT I
Citation: R. Happle et al., CUTIS-TRICOLOR - CONGENITAL HYPERPIGMENTED AND HYPOPIGMENTED MACULES ASSOCIATED WITH A SPORADIC MULTISYSTEM BIRTH-DEFECT - AN UNUSUAL EXAMPLE OF TWIN SPOTTING, Journal of Medical Genetics, 34(8), 1997, pp. 676-678
A CASE OF APPARENT TRISOMY-21 WITHOUT THE DOWNS-SYNDROME PHENOTYPE
Authors: AVRAMOPOULOS D KENNERKNECHT I BARBI G ECKERT D DELABAR JM MAUNOURY C HALLBERG A PETERSEN MB
Citation: D. Avramopoulos et al., A CASE OF APPARENT TRISOMY-21 WITHOUT THE DOWNS-SYNDROME PHENOTYPE, Journal of Medical Genetics, 34(7), 1997, pp. 597-600
CHARACTERIZATION OF FMR1 PROMOTER ELEMENTS BY IN-VIVO - FOOTPRINTING ANALYSIS
Authors: SCHWEMMLE S DEGRAAFF E DEISSLER H GLASER D WOHRLE D KENNERKNECHT I JUST W OOSTRA BA DORFLER W VOGEL W STEINBACH P
Citation: S. Schwemmle et al., CHARACTERIZATION OF FMR1 PROMOTER ELEMENTS BY IN-VIVO - FOOTPRINTING ANALYSIS, American journal of human genetics, 60(6), 1997, pp. 1354-1362
X AUTOSOME TRANSLOCATION IN 3 GENERATIONS ASCERTAINED THROUGH AN INFANT WITH TRISOMY 16P DUE TO FAILURE OF SPREADING OF X-INACTIVATION/
Authors: PREIS W BARBI G LIPTAY S KENNERKNECHT I SCHWEMMLE S POHLANDT F
Citation: W. Preis et al., X AUTOSOME TRANSLOCATION IN 3 GENERATIONS ASCERTAINED THROUGH AN INFANT WITH TRISOMY 16P DUE TO FAILURE OF SPREADING OF X-INACTIVATION/, American journal of medical genetics, 61(2), 1996, pp. 117-121
HETEROGENEITY OF DM KINASE REPEAT EXPANSION IN DIFFERENT FETAL TISSUES AND FURTHER EXPANSION DURING CELL-PROLIFERATION IN-VITRO - EVIDENCE FOR A CAUSAL INVOLVEMENT OF METHYL-DIRECTED DNA MISMATCH REPAIR IN TRIPLET REPEAT STABILITY
Authors: WOHRLE D KENNERKNECHT I WOLF M ENDERS H SCHWEMMLE S STEINBACH P
Citation: D. Wohrle et al., HETEROGENEITY OF DM KINASE REPEAT EXPANSION IN DIFFERENT FETAL TISSUES AND FURTHER EXPANSION DURING CELL-PROLIFERATION IN-VITRO - EVIDENCE FOR A CAUSAL INVOLVEMENT OF METHYL-DIRECTED DNA MISMATCH REPAIR IN TRIPLET REPEAT STABILITY, Human molecular genetics, 4(7), 1995, pp. 1147-1153
AGONADISM IN 2 SISTERS WITH XY GONOSOMAL CONSTITUTION, MENTAL-RETARDATION, SHORT STATURE, SEVERELY RETARDED BONE-AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS - A NEW AUTOSOMAL RECESSIVE SYNDROME
Authors: KENNERKNECHT I VONSAURMA P BRENNER R JUST W BARBI G SORGO M HEINZE E WOLF AS SCHNEIDER V GUNTHER KP TELLER WM VOGEL W
Citation: I. Kennerknecht et al., AGONADISM IN 2 SISTERS WITH XY GONOSOMAL CONSTITUTION, MENTAL-RETARDATION, SHORT STATURE, SEVERELY RETARDED BONE-AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS - A NEW AUTOSOMAL RECESSIVE SYNDROME, American journal of medical genetics, 59(1), 1995, pp. 62-67
DIAGNOSIS OF RETINOBLASTOMA IN A PRESYMPTOMATIC STAGE AFTER DETECTIONOF INTERSTITIAL CHROMOSOMAL DELETION 13Q
Authors: KENNERKNECHT I BARBI G GREHER J
Citation: I. Kennerknecht et al., DIAGNOSIS OF RETINOBLASTOMA IN A PRESYMPTOMATIC STAGE AFTER DETECTIONOF INTERSTITIAL CHROMOSOMAL DELETION 13Q, Ophthalmic genetics, 15(1), 1994, pp. 19-24
CHARACTERISTICS OF THE TRANSMISSION OF THE FMR1 GENE FROM CARRIER FEMALES IN A PROSPECTIVE SAMPLE OF CONCEPTUSES
Authors: SHERMAN SL MADDALENA A HOWARDPEEBLES PN BROWN WT NOLIN S JENKINS E SCHWARTZ C TARRELTON J SHAPIRO LR SMITS APT VANOOST BA YOUINGS S JACOBS PA MARTINEZ F BARNICOAT A HOCKEY A STALEY L HAGERMAN R KENNERKNECHT I STEINBACH P BARBI G FILIPPI G GRASSO M TAYLOR SAM ROBINSON H WEBB T BROOME D DIXON J FERREIRA P GUSTAVSON KH MEYER JL PAI GS
Citation: Sl. Sherman et al., CHARACTERISTICS OF THE TRANSMISSION OF THE FMR1 GENE FROM CARRIER FEMALES IN A PROSPECTIVE SAMPLE OF CONCEPTUSES, American journal of medical genetics, 51(4), 1994, pp. 503-506
DIDMOAD (WOLFRAM) SYNDROME
Authors: KELLNER M STRIAN F FASSBENDER K KENNERKNECHT I KLEIN R
Citation: M. Kellner et al., DIDMOAD (WOLFRAM) SYNDROME, British Journal of Psychiatry, 164, 1994, pp. 132-132
MOLECULAR ANALYSIS OF MUTATIONS IN THE GENE FMR-1 SEGREGATING IN FRAGILE X-FAMILIES
Authors: STEINBACH P WOHRLE D TARIVERDIAN G KENNERKNECHT I BARBI G EDLINGER H ENDERS H GOTZSOTHMANN M HEILBRONNER H HOSENFELD D KIRCHEISEN R MAJEWSKI F MEINECKE P PASSARGE E SCHMIDT A SEIDEL H WOLFF G ZANKL M
Citation: P. Steinbach et al., MOLECULAR ANALYSIS OF MUTATIONS IN THE GENE FMR-1 SEGREGATING IN FRAGILE X-FAMILIES, Human genetics, 92(5), 1993, pp. 491-498
A TRIPLOID FETUS WITH A DIPLOID PLACENTA - PROPOSAL OF A MECHANISM
Authors: KENNERKNECHT I JUST W VOGEL W
Citation: I. Kennerknecht et al., A TRIPLOID FETUS WITH A DIPLOID PLACENTA - PROPOSAL OF A MECHANISM, Prenatal diagnosis, 13(9), 1993, pp. 885-886
EVALUATION OF AMNIOTIC-FLUID CELL FILTRATION - AN EXPERIMENTAL APPROACH TO EARLY AMNIOCENTESIS
Authors: KENNERKNECHT I KRAMER S GRAB D TERINDE R
Citation: I. Kennerknecht et al., EVALUATION OF AMNIOTIC-FLUID CELL FILTRATION - AN EXPERIMENTAL APPROACH TO EARLY AMNIOCENTESIS, Prenatal diagnosis, 13(4), 1993, pp. 247-255
A PROSPECTIVE CYTOGENETIC STUDY OF 3RD-TRIMESTER PLACENTAE IN SMALL-FOR-DATE BUT OTHERWISE NORMAL NEWBORNS
Authors: KENNERKNECHT I KRAMER S GRAB D TERINDE R VOGEL W
Citation: I. Kennerknecht et al., A PROSPECTIVE CYTOGENETIC STUDY OF 3RD-TRIMESTER PLACENTAE IN SMALL-FOR-DATE BUT OTHERWISE NORMAL NEWBORNS, Prenatal diagnosis, 13(4), 1993, pp. 257-269
A MODIFIED EMBRYOGENIC MODEL TO EXPLAIN EMBRYONIC EXTRAEMBRYONIC CHROMOSOMAL INCONSISTENCIES/
Authors: KENNERKNECHT I VOGEL W MEHNERT K
Citation: I. Kennerknecht et al., A MODIFIED EMBRYOGENIC MODEL TO EXPLAIN EMBRYONIC EXTRAEMBRYONIC CHROMOSOMAL INCONSISTENCIES/, Prenatal diagnosis, 13(12), 1993, pp. 1156-1159
CYTOGENETIC DIAGNOSES AFTER CHORIONIC VILLUS SAMPLING ARE LESS RELIABLE IN VERY-HIGH-RISK OR VERY-LOW-RISK PREGNANCIES
Authors: KENNERKNECHT I BARBI G WOLF M DJALALI M GRAB D TERINDE R VOGEL W
Citation: I. Kennerknecht et al., CYTOGENETIC DIAGNOSES AFTER CHORIONIC VILLUS SAMPLING ARE LESS RELIABLE IN VERY-HIGH-RISK OR VERY-LOW-RISK PREGNANCIES, Prenatal diagnosis, 13(10), 1993, pp. 929-944
DUP(1Q)(Q42-]QTER) SYNDROME - CASE-REPORT AND REVIEW OF LITERATURE
Authors: KENNERKNECHT I BARBI G RODENS K
Citation: I. Kennerknecht et al., DUP(1Q)(Q42-]QTER) SYNDROME - CASE-REPORT AND REVIEW OF LITERATURE, American journal of medical genetics, 47(8), 1993, pp. 1157-1160
FAMILIAL OCCURRENCE OF AGONADISM AND MULTIPLE INTERNAL MALFORMATIONS IN PHENOTYPICALLY NORMAL GIRLS WITH 46,XY AND 46,XX KARYOTYPES, RESPECTIVELY - A NEW AUTOSOMAL RECESSIVE SYNDROME
Authors: KENNERKNECHT I SORGO W OBERHOFFER R TELLER WM MATTFELDT T NEGRI G VOGEL W
Citation: I. Kennerknecht et al., FAMILIAL OCCURRENCE OF AGONADISM AND MULTIPLE INTERNAL MALFORMATIONS IN PHENOTYPICALLY NORMAL GIRLS WITH 46,XY AND 46,XX KARYOTYPES, RESPECTIVELY - A NEW AUTOSOMAL RECESSIVE SYNDROME, American journal of medical genetics, 47(8), 1993, pp. 1166-1170
Risultati: 1-19 |