ACNP - Italian Periodicals Catalogue

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Results: 51-75/108

VALIDATION STUDIES OF SNRPN METHYLATION AS A DIAGNOSTIC-TEST FOR PRADER-WILLI-SYNDROME

Authors: KUBOTA T SUTCLIFFE JS ARADHYA S GILLESSENKAESBACH G CHRISTIAN SL HORSTHEMKE B BEAUDET AL LEDBETTER DH

Citation: T. Kubota et al., VALIDATION STUDIES OF SNRPN METHYLATION AS A DIAGNOSTIC-TEST FOR PRADER-WILLI-SYNDROME, American journal of medical genetics, 66(1), 1996, pp. 77-80

BRIEF CLINICAL REPORT - A 5-YEAR-OLD WHITE GIRL WITH PRADER-WILLI-SYNDROME AND A SUBMICROSCOPIC DELETION OF CHROMOSOME-15Q11Q13

Authors: BUTLER MG CHRISTIAN SL KUBOTA T LEDBETTER DH

Citation: Mg. Butler et al., BRIEF CLINICAL REPORT - A 5-YEAR-OLD WHITE GIRL WITH PRADER-WILLI-SYNDROME AND A SUBMICROSCOPIC DELETION OF CHROMOSOME-15Q11Q13, American journal of medical genetics, 65(2), 1996, pp. 137-141

THE ORIGIN OF MATERNAL UNIPARENTAL DISOMY-15

Authors: ROBINSON WP LANGLOIS S BERNASCONI F CLARK S CHRISTIAN S LEDBETTER DH GILLESSENKAESBACH G HORSTHEMKE B LERER I ABELIOVICH D MICHAELIS R SCHUFFENHAUER S SCHINZEL AA

Citation: Wp. Robinson et al., THE ORIGIN OF MATERNAL UNIPARENTAL DISOMY-15, American journal of medical genetics, 64(4), 1996, pp. 2-2

ADVANCES IN BOTH POSTNATAL AND PRENATAL-DIAGNOSIS FOR PRADER-WILLI-SYNDROME (PWS)

Authors: KUBOTA T CHRISTINA SL HORSTHEMKE B LEDBETTER DH

Citation: T. Kubota et al., ADVANCES IN BOTH POSTNATAL AND PRENATAL-DIAGNOSIS FOR PRADER-WILLI-SYNDROME (PWS), American journal of medical genetics, 64(4), 1996, pp. 5-5

MULTICOLOR SPECTRAL KARYOTYPING OF HUMAN-CHROMOSOMES

Authors: SCHROCK E DUMANOIR S VELDMAN T SCHOELL B WIENBERG J FERGUSONSMITH MA NING Y LEDBETTER DH BARAM I SOENKSEN D GARINI Y RIED T

Citation: E. Schrock et al., MULTICOLOR SPECTRAL KARYOTYPING OF HUMAN-CHROMOSOMES, Science, 273(5274), 1996, pp. 494-497

X-LINKED MALFORMATIONS OF NEURONAL MIGRATION

Authors: DOBYNS WB ANDERMANN E ANDERMANN F CZAPANSKYBEILMAN D DUBEAU F DULAC O GUERRINI R HIRSCH B LEDBETTER DH LEE NS MOTTE J PINARD JM RADTKE RA ROSS ME TAMPIERI D WALSH CA TRUWIT CL

Citation: Wb. Dobyns et al., X-LINKED MALFORMATIONS OF NEURONAL MIGRATION, Neurology, 47(2), 1996, pp. 331-339

ANALYSIS OF PARENT OF ORIGIN SPECIFIC DNA METHYLATION AT SNRPN AND PW71 IN TISSUES - IMPLICATION FOR PRENATAL-DIAGNOSIS

Authors: KUBOTA T ARADHYA S MACHA M SMITH ACM SURH LC SATISH J VERP MS NEE HL JOHNSON A CHRISTIAN SL LEDBETTER DH

Citation: T. Kubota et al., ANALYSIS OF PARENT OF ORIGIN SPECIFIC DNA METHYLATION AT SNRPN AND PW71 IN TISSUES - IMPLICATION FOR PRENATAL-DIAGNOSIS, Journal of Medical Genetics, 33(12), 1996, pp. 1011-1014

MILLER-DIEKER SYNDROME RESULTING FROM REARRANGEMENT OF A FAMILIAL CHROMOSOME-17 INVERSION DETECTED BY FLUORESCENCE IN-SITU HYBRIDIZATION

Authors: KINGSTON HM LEDBETTER DH TOMLIN PI GAUNT KL

Citation: Hm. Kingston et al., MILLER-DIEKER SYNDROME RESULTING FROM REARRANGEMENT OF A FAMILIAL CHROMOSOME-17 INVERSION DETECTED BY FLUORESCENCE IN-SITU HYBRIDIZATION, Journal of Medical Genetics, 33(1), 1996, pp. 69-72

DIAGNOSTIC TESTING FOR PRADER-WILLI AND ANGELMAN SYNDROMES - REPORT OF THE ASHC ACMC TEST AND TECHNOLOGY-TRANSFER COMMITTEE/

Authors: CASSIDY SB BEAUDET AL KNOLL JHM LEDBETTER DH NICHOLLS RD SCHWARTZ S BUTLER MG WATSON M

Citation: Sb. Cassidy et al., DIAGNOSTIC TESTING FOR PRADER-WILLI AND ANGELMAN SYNDROMES - REPORT OF THE ASHC ACMC TEST AND TECHNOLOGY-TRANSFER COMMITTEE/, American journal of human genetics, 58(5), 1996, pp. 1085-1088

UNIPARENTAL DISOMY IN HUMANS - DEVELOPMENT OF AN IMPRINTING MAP AND ITS IMPLICATIONS FOR PRENATAL-DIAGNOSIS

Authors: LEDBETTER DH ENGEL E

Citation: Dh. Ledbetter et E. Engel, UNIPARENTAL DISOMY IN HUMANS - DEVELOPMENT OF AN IMPRINTING MAP AND ITS IMPLICATIONS FOR PRENATAL-DIAGNOSIS, Human molecular genetics, 4, 1995, pp. 1757-1764

SPATIAL-ORGANIZATION OF ABR AND CRK GENES ON HUMAN-CHROMOSOME BAND 17P13.3

Authors: MORRIS C BENJES S HAATAJA L LEDBETTER DH HEISTERKAMP N GROFFEN J

Citation: C. Morris et al., SPATIAL-ORGANIZATION OF ABR AND CRK GENES ON HUMAN-CHROMOSOME BAND 17P13.3, Oncogene, 10(5), 1995, pp. 1009-1011

TISSUE-SPECIFIC AND ALLELE-SPECIFIC REPLICATION TIMING CONTROL IN THEIMPRINTED HUMAN PRADER-WILLI-SYNDROME REGION

Authors: GUNARATNE PH NAKAO M LEDBETTER DH SUTCLIFFE JS CHINAULT AC

Citation: Ph. Gunaratne et al., TISSUE-SPECIFIC AND ALLELE-SPECIFIC REPLICATION TIMING CONTROL IN THEIMPRINTED HUMAN PRADER-WILLI-SYNDROME REGION, Genes & development, 9(7), 1995, pp. 808-820

LIS2, GENE AND PSEUDOGENE, HOMOLOGOUS TO LIS1 (LISSENCEPHALY-1), LOCATED ON THE SHORT AND LONG ARMS OF CHROMOSOME-2

Authors: REINER O BARAM I SAPIR T SHMUELI O CARROZZO R LINDSAY EA BALDINI A LEDBETTER DH CAHANA A

Citation: O. Reiner et al., LIS2, GENE AND PSEUDOGENE, HOMOLOGOUS TO LIS1 (LISSENCEPHALY-1), LOCATED ON THE SHORT AND LONG ARMS OF CHROMOSOME-2, Genomics, 30(2), 1995, pp. 251-256

THE HUMAN CORTICOTROPIN-RELEASING FACTOR-RECEPTOR (CRHR) GENE MAPS TOCHROMOSOME 17Q12-Q22

Authors: POLYMEROPOULOS MH TORRES R YANOVSKI JA CHANDRASEKHARAPPA SC LEDBETTER DH

Citation: Mh. Polymeropoulos et al., THE HUMAN CORTICOTROPIN-RELEASING FACTOR-RECEPTOR (CRHR) GENE MAPS TOCHROMOSOME 17Q12-Q22, Genomics, 28(1), 1995, pp. 123-124

MOLECULAR CYTOGENETICS - DOSAGE AND IMPRINTING EFFECTS IN HUMAN-DEVELOPMENT

Authors: LEDBETTER DH

Citation: Dh. Ledbetter, MOLECULAR CYTOGENETICS - DOSAGE AND IMPRINTING EFFECTS IN HUMAN-DEVELOPMENT, Cytogenetics and cell genetics, 71(4), 1995, pp. 392-392

DETECTION OF A SUBTLE REARRANGEMENT OF CHROMOSOME-22 USING MOLECULAR TECHNIQUES

Authors: BIESECKER LG ROSENBERG M DZIADZIO L LEDBETTER DH NING Y SARNESO C ROSENBAUM K

Citation: Lg. Biesecker et al., DETECTION OF A SUBTLE REARRANGEMENT OF CHROMOSOME-22 USING MOLECULAR TECHNIQUES, American journal of medical genetics, 58(4), 1995, pp. 389-394

REPLICATION BANDING AND MOLECULAR STUDIES OF A MOSAIC, UNBALANCED DIC(X-15)(XPTER-]XQ26.1 /15P11-]15QTER)/

Authors: SCHEUERLE A ZENGERHAIN JL VANDYKE DL LEDBETTER DH GREENBERG F SHAFFER LG

Citation: A. Scheuerle et al., REPLICATION BANDING AND MOLECULAR STUDIES OF A MOSAIC, UNBALANCED DIC(X-15)(XPTER-]XQ26.1 /15P11-]15QTER)/, American journal of medical genetics, 56(4), 1995, pp. 403-408

SUMMARY OF THE 1993 ASHG ANCILLARY MEETING - RECENT RESEARCH ON CHROMOSOME-4P SYNDROMES AND GENES

Authors: ESTABROOKS LL BREG WR HAYDEN MR LEDBETTER DH MYERS RM WYANDT HE YANGFENG TL HIRSCHHORN K

Citation: Ll. Estabrooks et al., SUMMARY OF THE 1993 ASHG ANCILLARY MEETING - RECENT RESEARCH ON CHROMOSOME-4P SYNDROMES AND GENES, American journal of medical genetics, 55(4), 1995, pp. 453-458

ISOLATION OF CHROMOSOME-SPECIFIC TELOMERIC PROBES AND THEIR CLINICAL-APPLICATION

Authors: NING Y ROSENBERG M BIESECKER L SMITH ACM RIETHMAN H LEDBETTER DH

Citation: Y. Ning et al., ISOLATION OF CHROMOSOME-SPECIFIC TELOMERIC PROBES AND THEIR CLINICAL-APPLICATION, American journal of human genetics, 57(4), 1995, pp. 78-78

MOLECULAR DIAGNOSIS FOR PRADER-WILLI-SYNDROME USING PARENT-OF-ORIGIN SPECIFIC DNA METHYLATION IN THE CPG ISLAND AT THE 5' END OF THE SNRPN GENE

Authors: KUBOTA T SUTCLIFFE JS KAYAWESTERLOH S BEAUDET AL HORSTHEMKE B LEDBETTER DH

Citation: T. Kubota et al., MOLECULAR DIAGNOSIS FOR PRADER-WILLI-SYNDROME USING PARENT-OF-ORIGIN SPECIFIC DNA METHYLATION IN THE CPG ISLAND AT THE 5' END OF THE SNRPN GENE, American journal of human genetics, 57(4), 1995, pp. 166-166

MOLECULAR INVESTIGATION OF MOSAIC TRISOMY-15 DEMONSTRATES MATERNAL MINONDISJUNCTION AND HIGH-RISK FOR UNIPARENTAL DISOMY-15

Authors: CHRISTIAN SL SMITH ACM BLACK S ELDER FFB JOHNSON JMP RESTA RG ROCKLIN ML SURTI U SUSLAK L VERP MS WILKINS I LEDBETTER DH

Citation: Sl. Christian et al., MOLECULAR INVESTIGATION OF MOSAIC TRISOMY-15 DEMONSTRATES MATERNAL MINONDISJUNCTION AND HIGH-RISK FOR UNIPARENTAL DISOMY-15, American journal of human genetics, 57(4), 1995, pp. 167-167

SYSTEMATIC DELETION ANALYSIS OF MDS AND ILS PATIENTS EXCLUDES A CANDIDATE GENE AND DELINEATES THE LISSENCEPHALY GENE LOCUS

Authors: CHONG SS PACK S TANIGAMI A CARROZZO R DOBYNS WB LEDBETTER DH

Citation: Ss. Chong et al., SYSTEMATIC DELETION ANALYSIS OF MDS AND ILS PATIENTS EXCLUDES A CANDIDATE GENE AND DELINEATES THE LISSENCEPHALY GENE LOCUS, American journal of human genetics, 57(4), 1995, pp. 170-170

IDENTIFICATION OF 2 CLASSES OF BREAKPOINTS IN SMALL INV DUP(15) CHROMOSOMES BY CYTOGENETIC AND MOLECULAR STUDIES

Authors: HUANG B CROLLA JA PAPENHAUSEN PR LEDBETTER DH

Citation: B. Huang et al., IDENTIFICATION OF 2 CLASSES OF BREAKPOINTS IN SMALL INV DUP(15) CHROMOSOMES BY CYTOGENETIC AND MOLECULAR STUDIES, American journal of human genetics, 57(4), 1995, pp. 651-651

AN UNUSUAL CASE OF TRISOMY-16 MOSAICISM DUE TO PATERNAL NONDISJUNCTION

Authors: MECK JM CHRISTIAN SL PAULYSON KJ SIQUES MJ LEWIS K GARNICA A SEYDEL FD LEDBETTER DH

Citation: Jm. Meck et al., AN UNUSUAL CASE OF TRISOMY-16 MOSAICISM DUE TO PATERNAL NONDISJUNCTION, American journal of human genetics, 57(4), 1995, pp. 674-674

LOCALIZATION OF THE 3C SYNDROME OR A PHENOCOPY TO CHROMOSOME 1Q44-QTER

Authors: SMITH ACM DAYSALVATORE DL NING Y MACHA ME CHRISTIAN SL TURNER TH SCIORRA LJ DOBYNS WB LEDBETTER DH

Citation: Acm. Smith et al., LOCALIZATION OF THE 3C SYNDROME OR A PHENOCOPY TO CHROMOSOME 1Q44-QTER, American journal of human genetics, 57(4), 1995, pp. 1320-1320

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