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Results: 1-25/108
GRADED REDUCTION OF PAFAH1B1 (LIS1) ACTIVITY RESULTS IN NEURONAL MIGRATION DEFECTS AND EARLY EMBRYONIC LETHALITY
Authors: HIROTSUNE S FLECK MW GAMBELLO MJ BIX GJ CHEN A CLARK GD LEDBETTER DH MCBAIN CJ WYNSHAWBORIS A
Citation: S. Hirotsune et al., GRADED REDUCTION OF PAFAH1B1 (LIS1) ACTIVITY RESULTS IN NEURONAL MIGRATION DEFECTS AND EARLY EMBRYONIC LETHALITY, Nature genetics, 19(4), 1998, pp. 333-339
INTEGRATED YAC CONTIG MAP OF THE PRADER-WILLI ANGELMAN-REGION ON CHROMOSOME-15Q11-Q13 WITH AVERAGE STS SPACING OF 35-KB/
Authors: CHRISTIAN SL BHATT NK MARTIN SZ SUTCLIFFE JS KUBOTA T HUANG B MUTIRANGURA A CHINAULT AC BEAUDET AL LEDBETTER DH
Citation: Sl. Christian et al., INTEGRATED YAC CONTIG MAP OF THE PRADER-WILLI ANGELMAN-REGION ON CHROMOSOME-15Q11-Q13 WITH AVERAGE STS SPACING OF 35-KB/, PCR methods and applications, 8(2), 1998, pp. 146-157
MATERNAL MEIOSIS-I NONDISJUNCTION OF CHROMOSOME-15 - DEPENDENCE OF THE MATERNAL AGE EFFECT ON LEVEL OF RECOMBINATION
Authors: ROBINSON WP KUCHINKA BD BERNASCONI F PETERSEN MB SCHULZE A BRONDUMNIELSEN K CHRISTIAN SL LEDBETTER DH SCHINZEL AA HORSTHEMKE B SCHUFFENHAUER S MICHAELIS RC LANGLOIS S HASSOLD TJ
Citation: Wp. Robinson et al., MATERNAL MEIOSIS-I NONDISJUNCTION OF CHROMOSOME-15 - DEPENDENCE OF THE MATERNAL AGE EFFECT ON LEVEL OF RECOMBINATION, Human molecular genetics, 7(6), 1998, pp. 1011-1019
THE HUMAN ROX GENE - GENOMIC STRUCTURE AND MUTATION ANALYSIS IN HUMANBREAST-TUMORS
Authors: LONIGRO C VENESIO T REYMOND A MERONI G ALBERICI P CAINARCA S ENRICO F STACK M LEDBETTER DH LISCIA DS BALLABIO A CARROZZO R
Citation: C. Lonigro et al., THE HUMAN ROX GENE - GENOMIC STRUCTURE AND MUTATION ANALYSIS IN HUMANBREAST-TUMORS, Genomics, 49(2), 1998, pp. 275-282
COMPARATIVE GENOMIC HYBRIDIZATION - A COMPARISON WITH MOLECULAR AND CYTOGENETIC ANALYSIS
Authors: NACHEVA EP GRACE CD BITTNER M LEDBETTER DH JENKINS RB GREEN AR
Citation: Ep. Nacheva et al., COMPARATIVE GENOMIC HYBRIDIZATION - A COMPARISON WITH MOLECULAR AND CYTOGENETIC ANALYSIS, Cancer genetics and cytogenetics, 100(2), 1998, pp. 93-105
MOLECULAR SCREENING FOR PROXIMAL 15Q ABNORMALITIES IN A MENTALLY-RETARDED POPULATION
Authors: JACOBSEN J KING BH LEVENTHAL BL CHRISTIAN SL LEDBETTER DH COOK EH
Citation: J. Jacobsen et al., MOLECULAR SCREENING FOR PROXIMAL 15Q ABNORMALITIES IN A MENTALLY-RETARDED POPULATION, Journal of Medical Genetics, 35(7), 1998, pp. 534-538
CLASSICAL LISSENCEPHALY SYNDROMES - DOES THE FACE REFLECT THE BRAIN
Authors: ALLANSON JE LEDBETTER DH DOBYNS WB
Citation: Je. Allanson et al., CLASSICAL LISSENCEPHALY SYNDROMES - DOES THE FACE REFLECT THE BRAIN, Journal of Medical Genetics, 35(11), 1998, pp. 920-923
2 22Q TELOMERE DELETIONS SERENDIPITOUSLY DETECTED BY FISH
Authors: PRECHT KS LESE CM SPIRO RP HUTTENLOCHER PR JOHNSTON KM BAKER JC CHRISTIAN SL KITTIKAMRON K LEDBETTER DH
Citation: Ks. Precht et al., 2 22Q TELOMERE DELETIONS SERENDIPITOUSLY DETECTED BY FISH, Journal of Medical Genetics, 35(11), 1998, pp. 939-942
ISOLATION OF BAC CLONES SPANNING THE XQ22.3 TRANSLOCATION BREAKPOINT IN A LISSENCEPHALY PATIENT WITH A DE-NOVO X-2 TRANSLOCATION
Authors: MATSUMOTO N PILZ DT FANTES JA KITTIKAMRON K LEDBETTER DH
Citation: N. Matsumoto et al., ISOLATION OF BAC CLONES SPANNING THE XQ22.3 TRANSLOCATION BREAKPOINT IN A LISSENCEPHALY PATIENT WITH A DE-NOVO X-2 TRANSLOCATION, Journal of Medical Genetics, 35(10), 1998, pp. 829-832
METHYLATION-SPECIFIC PCR SIMPLIFIES IMPRINTING ANALYSIS
Authors: KUBOTA T DAS S CHRISTIAN SL BAYLIN SB HERMAN JG LEDBETTER DH
Citation: T. Kubota et al., METHYLATION-SPECIFIC PCR SIMPLIFIES IMPRINTING ANALYSIS, Nature genetics, 16(1), 1997, pp. 16-17
GENOMIC ORGANIZATION OF THE MURINE MILLER-DIEKER LISSENCEPHALY REGION- CONSERVATION OF LINKAGE WITH THE HUMAN REGION/
Authors: HIROTSUNE S PACK SD CHONG SS ROBBINS CM PAVAN WJ LEDBETTER DH WYNSHAWBORIS A
Citation: S. Hirotsune et al., GENOMIC ORGANIZATION OF THE MURINE MILLER-DIEKER LISSENCEPHALY REGION- CONSERVATION OF LINKAGE WITH THE HUMAN REGION/, PCR methods and applications, 7(6), 1997, pp. 625-634
THE E6-AP UBIQUITIN-PROTEIN LIGASE (UBE3A) GENE IS LOCALIZED WITHIN ANARROWED ANGELMAN SYNDROME CRITICAL REGION
Authors: SUTCLIFFE JS JIANG YH GALJAARD RJ CHRISTIAN SL MATSUURA T FANG P KUBOTA T BRESSLER J CATTANACH B LEDBETTER DH BEAUDET AL
Citation: Js. Sutcliffe et al., THE E6-AP UBIQUITIN-PROTEIN LIGASE (UBE3A) GENE IS LOCALIZED WITHIN ANARROWED ANGELMAN SYNDROME CRITICAL REGION, PCR methods and applications, 7(4), 1997, pp. 368-377
LINKAGE AND PHYSICAL MAPPING OF X-LINKED LISSENCEPHALY SBH (XLIS) - AGENE CAUSING NEURONAL MIGRATION DEFECTS IN HUMAN BRAIN/
Authors: ROSS ME ALLEN KM SRIVASTAVA AK FEATHERSTONE T GLEESON JG HIRSCH B HARDING BN ANDERMANN E ABDULLAH R BERG M CZAPANSKYBIELMAN D FLANDERS DJ GUERRINI R MOTTE J MIRA AP SCHEFFER I BERKOVIC S SCARAVILLI F KING RA LEDBETTER DH SCHLESSINGER D DOBYNS WB WALSH CA
Citation: Me. Ross et al., LINKAGE AND PHYSICAL MAPPING OF X-LINKED LISSENCEPHALY SBH (XLIS) - AGENE CAUSING NEURONAL MIGRATION DEFECTS IN HUMAN BRAIN/, Human molecular genetics, 6(4), 1997, pp. 555-562
A REVISION OF THE LISSENCEPHALY AND MILLER-DIEKER SYNDROME CRITICAL REGIONS IN CHROMOSOME 17P13.3
Authors: CHONG SS PACK SD ROSCHKE AV TANIGAMI A CARROZZO R SMITH ACM DOBYNS WB LEDBETTER DH
Citation: Ss. Chong et al., A REVISION OF THE LISSENCEPHALY AND MILLER-DIEKER SYNDROME CRITICAL REGIONS IN CHROMOSOME 17P13.3, Human molecular genetics, 6(2), 1997, pp. 147-155
POINT MUTATIONS AND AN INTRAGENIC DELETION IN LIS1, THE LISSENCEPHALYCAUSATIVE GENE IN ISOLATED LISSENCEPHALY SEQUENCE AND MILLER-DIEKER SYNDROME
Authors: LONIGRO C CHONG SS SMITH ACM DOBYNS WB CARROZZO R LEDBETTER DH
Citation: C. Lonigro et al., POINT MUTATIONS AND AN INTRAGENIC DELETION IN LIS1, THE LISSENCEPHALYCAUSATIVE GENE IN ISOLATED LISSENCEPHALY SEQUENCE AND MILLER-DIEKER SYNDROME, Human molecular genetics, 6(2), 1997, pp. 157-164
REFINED MOLECULAR CHARACTERIZATION OF THE BREAKPOINTS IN SMALL INV DUP(15) CHROMOSOMES
Authors: HUANG B CROLLA JA CHRISTIAN SL WOLFLEDBETTER ME MACHA ME PAPENHAUSEN PN LEDBETTER DH
Citation: B. Huang et al., REFINED MOLECULAR CHARACTERIZATION OF THE BREAKPOINTS IN SMALL INV DUP(15) CHROMOSOMES, Human genetics, 99(1), 1997, pp. 11-17
ASSIGNMENT OF TROPHOBLAST ENDOMETRIAL EPITHELIUM CELL-ADHESION MOLECULE TROPHININ GENE TRO TO HUMAN-CHROMOSOME BANDS XP11.22-]P11.21 BY IN-SITU HYBRIDIZATION
Authors: PACK SD TANIGAMI A LEDBETTER DH SATO T FUKUDA MN
Citation: Sd. Pack et al., ASSIGNMENT OF TROPHOBLAST ENDOMETRIAL EPITHELIUM CELL-ADHESION MOLECULE TROPHININ GENE TRO TO HUMAN-CHROMOSOME BANDS XP11.22-]P11.21 BY IN-SITU HYBRIDIZATION, Cytogenetics and cell genetics, 79(1-2), 1997, pp. 123-124
ROX, A NOVEL BHLHZIP PROTEIN EXPRESSED IN QUIESCENT CELLS THAT HETERODIMERIZES WITH MAX, BINDS A NONCANONICAL E-BOX AND ACTS AS A TRANSCRIPTIONAL REPRESSOR (VOL 16, PG 2892, 1997)
Authors: MERONI G REYMOND A ALCALAY M BORSANI G TANIGAMI A TONLORENZI R LONIGRO C MESSALI S ZOLLO M LEDBETTER DH BRENT R BALLABIO A CARROZZO R
Citation: G. Meroni et al., ROX, A NOVEL BHLHZIP PROTEIN EXPRESSED IN QUIESCENT CELLS THAT HETERODIMERIZES WITH MAX, BINDS A NONCANONICAL E-BOX AND ACTS AS A TRANSCRIPTIONAL REPRESSOR (VOL 16, PG 2892, 1997), EMBO journal, 16(19), 1997, pp. 6055-6055
ROX, A NOVEL BHLHZIP PROTEIN EXPRESSED IN QUIESCENT CELLS THAT HETERODIMERIZES WITH MAX, BINDS A NONCANONICAL E-BOX AND ACTS AS A TRANSCRIPTIONAL REPRESSOR
Authors: MERONI G REYMOND A ALCALAY M BORSANI G TANIGAMI A TONLORENZI R LONIGRO C MESSALI S ZOLLO M LEDBETTER DH BRENT R BALLABIO A CARROZZO R
Citation: G. Meroni et al., ROX, A NOVEL BHLHZIP PROTEIN EXPRESSED IN QUIESCENT CELLS THAT HETERODIMERIZES WITH MAX, BINDS A NONCANONICAL E-BOX AND ACTS AS A TRANSCRIPTIONAL REPRESSOR, EMBO journal, 16(10), 1997, pp. 2892-2906
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 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, American journal of medical genetics, 73(4), 1997, pp. 1-1
UNIPARENTAL DISOMY-15 - IMPROVED MOLECULAR DIAGNOSIS AND CURRENT CLINICAL INDICATIONS
Authors: CHRISTIAN SL KUBOTA T HUANG B LESSER J SUTCLIFFE JS LEDBETTER DH
Citation: Sl. Christian et al., UNIPARENTAL DISOMY-15 - IMPROVED MOLECULAR DIAGNOSIS AND CURRENT CLINICAL INDICATIONS, American journal of medical genetics, 73(4), 1997, pp. 3-3
NEURONALLY-EXPRESSED NECDIN GENE - AN IMPRINTED CANDIDATE GENE IN PRADER-WILLI-SYNDROME
Authors: SUTCLIFFE JS HAN M CHRISTIAN SL LEDBETTER DH
Citation: Js. Sutcliffe et al., NEURONALLY-EXPRESSED NECDIN GENE - AN IMPRINTED CANDIDATE GENE IN PRADER-WILLI-SYNDROME, Lancet, 350(9090), 1997, pp. 1520-1521
DELETION WITHIN THE D17S34 LOCUS IN A PRIMITIVE NEUROECTODERMAL TUMOR
Authors: HAATAJA L RAFFEL C LEDBETTER DH TANIGAMI A PETERSEN D HEISTERKAMP N GROFFEN J
Citation: L. Haataja et al., DELETION WITHIN THE D17S34 LOCUS IN A PRIMITIVE NEUROECTODERMAL TUMOR, Cancer research, 57(1), 1997, pp. 32-34
IDENTIFICATION OF A LARGE DUPLICATED GENE-CLUSTER REGION AT THE COMMON DELETION BREAKPOINTS OF PRADER-WILLI AND ANGELMAN-SYNDROMES
Authors: CHRISTIAN SL MARTIN SA FANTES J BHATT NK HUANG B LEDBETTER DH
Citation: Sl. Christian et al., IDENTIFICATION OF A LARGE DUPLICATED GENE-CLUSTER REGION AT THE COMMON DELETION BREAKPOINTS OF PRADER-WILLI AND ANGELMAN-SYNDROMES, American journal of human genetics, 61(4), 1997, pp. 24-24
FISH ANALYSIS IN 100 PATIENTS WITH ISOLATED-LISSENCEPHALY-SEQUENCE (ILS) - LIS1 PROBES SIGNIFICANTLY INCREASE DELETION DETECTION RATE
Authors: PILZ DT MACHA ME PRECHT KS DOBYNS WB SMITH ACM LEDBETTER DH
Citation: Dt. Pilz et al., FISH ANALYSIS IN 100 PATIENTS WITH ISOLATED-LISSENCEPHALY-SEQUENCE (ILS) - LIS1 PROBES SIGNIFICANTLY INCREASE DELETION DETECTION RATE, American journal of human genetics, 61(4), 1997, pp. 162-162
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