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Results: 1-25 | 26-29
Results: 1-25/29
EVIDENCE FOR SOMATIC AND GERMLINE MOSAICISM IN CRASH SYNDROME
Authors: VITS L CHITAYAT D VANCAMP G HOLDEN JJA FRANSEN E WILLEMS PJ
Citation: L. Vits et al., EVIDENCE FOR SOMATIC AND GERMLINE MOSAICISM IN CRASH SYNDROME, Human mutation, 1998, pp. 284-287
MOLECULAR INVESTIGATION OF THE GENETIC-VARIATION AND INTERGENERATIONAL FMR1-REPEAT INSTABILITY IN 100 3 GENERATION FAMILIES FROM THE NORMALGENERAL-POPULATION
Authors: PATSALIS PC SISMANI C STYLIANOU S IOANNOU P JOSEPH G MANOLI P HOLDEN JJA HETTINGER JA
Citation: Pc. Patsalis et al., MOLECULAR INVESTIGATION OF THE GENETIC-VARIATION AND INTERGENERATIONAL FMR1-REPEAT INSTABILITY IN 100 3 GENERATION FAMILIES FROM THE NORMALGENERAL-POPULATION, European journal of human genetics, 6, 1998, pp. 4154-4154
FOLATE-SENSITIVE FRAGILE SITES IN SCHIZOPHRENIA AND BIPOLAR DISORDER - CANDIDATE REGIONS FOR SUSCEPTIBILITY LOCI
Authors: HOLDEN JJA KAPALANGA J ZHANG H LAWSON JS ELBAZ Z BLACK R OWEN J WALDRON J ABRAHAMS G MCCREARY DB WHITE BN
Citation: Jja. Holden et al., FOLATE-SENSITIVE FRAGILE SITES IN SCHIZOPHRENIA AND BIPOLAR DISORDER - CANDIDATE REGIONS FOR SUSCEPTIBILITY LOCI, American journal of medical genetics, 81(6), 1998, pp. 531-531
MODEL FOR THE GENETICS OF AUTISM AND THE RELATED PERVASIVE DEVELOPMENTAL DISORDERS COMBINING A MATERNAL EFFECT WITH SUSCEPTIBILITY FACTORS IN THE FETUS
Authors: HOLDEN JJA SCHUTZ CK ROBINSON PD POLLEY D WHITE BN
Citation: Jja. Holden et al., MODEL FOR THE GENETICS OF AUTISM AND THE RELATED PERVASIVE DEVELOPMENTAL DISORDERS COMBINING A MATERNAL EFFECT WITH SUSCEPTIBILITY FACTORS IN THE FETUS, American journal of medical genetics, 81(6), 1998, pp. 548-548
NATURAL-HISTORY OF COGNITIVE AND ADAPTIVE-BEHAVIOR IN YOUNG FRAGILE-XMALES AND FEMALES - A 6-YEAR PROSPECTIVE MULTICENTER STUDY
Authors: FISCH GS HOLDEN JJA CHALIFOUX M CARPENTER NJ HOWARDPEEBLES PN MADDALENA A SIMENSEN R TARLETON J BORGHGRAEF M STEYAERT J FRYNS JP
Citation: Gs. Fisch et al., NATURAL-HISTORY OF COGNITIVE AND ADAPTIVE-BEHAVIOR IN YOUNG FRAGILE-XMALES AND FEMALES - A 6-YEAR PROSPECTIVE MULTICENTER STUDY, American journal of human genetics, 61(4), 1997, pp. 18-18
DIRECT-DETECTION OF EXPANDED TRINUCLEOTIDE REPEATS USING PCR AND DNA HYBRIDIZATION TECHNIQUES
Authors: PETRONIS A HENG HHQ TATUCH Y SHI XM KLEMPAN TA TSUI LC ASHIZAWA T SURH LC HOLDEN JJA KENNEDY JL
Citation: A. Petronis et al., DIRECT-DETECTION OF EXPANDED TRINUCLEOTIDE REPEATS USING PCR AND DNA HYBRIDIZATION TECHNIQUES, American journal of medical genetics, 67(1), 1996, pp. 85-91
A RAPID, RELIABLE, AND INEXPENSIVE METHOD FOR DETECTION OF DINUCLEOTIDE AND TRINUCLEOTIDE REPEAT MARKERS AND DISEASE LOCI FROM DRIED BLOOD SPOTS
Authors: HOLDEN JJA CHALIFOUX M WING M JULIENINALSINGH C WHITE BN
Citation: Jja. Holden et al., A RAPID, RELIABLE, AND INEXPENSIVE METHOD FOR DETECTION OF DINUCLEOTIDE AND TRINUCLEOTIDE REPEAT MARKERS AND DISEASE LOCI FROM DRIED BLOOD SPOTS, American journal of medical genetics, 64(2), 1996, pp. 313-318
RATER RELIABILITY OF FRAGILE-X MUTATION SIZE ESTIMATES - A MULTILABORATORY ANALYSIS
Authors: FISCH GS CARPENTER N MADDALENA A TARLETON J JULIENINALSINGH C HOLDEN JJA
Citation: Gs. Fisch et al., RATER RELIABILITY OF FRAGILE-X MUTATION SIZE ESTIMATES - A MULTILABORATORY ANALYSIS, American journal of medical genetics, 64(2), 1996, pp. 319-322
NEUROPSYCHOLOGICAL PROFILES OF 3 SISTERS HOMOZYGOUS FOR THE FRAGILE-XPREMUTATION
Authors: MAZZOCCO MMM HOLDEN JJA
Citation: Mmm. Mazzocco et Jja. Holden, NEUROPSYCHOLOGICAL PROFILES OF 3 SISTERS HOMOZYGOUS FOR THE FRAGILE-XPREMUTATION, American journal of medical genetics, 64(2), 1996, pp. 323-328
LACK OF ASSOCIATION BETWEEN MUTATION SIZE AND COGNITIVE BEHAVIOR DEFICITS IN FRAGILE-X MALES - A BRIEF REPORT/
Authors: FISCH GS CARPENTER N HOWARDPEEBLES PN MADDALENA A SIMENSEN R TARLETON J JULIENINALSINGH C CHALIFOUX M HOLDEN JJA
Citation: Gs. Fisch et al., LACK OF ASSOCIATION BETWEEN MUTATION SIZE AND COGNITIVE BEHAVIOR DEFICITS IN FRAGILE-X MALES - A BRIEF REPORT/, American journal of medical genetics, 64(2), 1996, pp. 362-364
LACK OF EXPANSION OF TRIPLET REPEATS IN THE FMR1, FRAXE, AND FRAXF LOCI IN MALE MULTIPLEX FAMILIES WITH AUTISM AND PERVASIVE DEVELOPMENTAL DISORDERS
Authors: HOLDEN JJA WING M CHALIFOUX M JULIENINALSINGH C SCHUTZ C ROBINSON P SZATMARI P WHITE BN
Citation: Jja. Holden et al., LACK OF EXPANSION OF TRIPLET REPEATS IN THE FMR1, FRAXE, AND FRAXF LOCI IN MALE MULTIPLEX FAMILIES WITH AUTISM AND PERVASIVE DEVELOPMENTAL DISORDERS, American journal of medical genetics, 64(2), 1996, pp. 399-403
TRINUCLEOTIDE REPEAT EXPANSION IN THE FRAXE LOCUS IS NOT COMMON AMONGINSTITUTIONALIZED INDIVIDUALS WITH NONSPECIFIC DEVELOPMENTAL-DISABILITIES
Authors: HOLDEN JJA JULIENINALSINGH C CHALIFOUX M WING M SCOTT E FIDLER K SWIFT I MAIDMENT B KNIGHT SJL DAVIES KE WHITE BN
Citation: Jja. Holden et al., TRINUCLEOTIDE REPEAT EXPANSION IN THE FRAXE LOCUS IS NOT COMMON AMONGINSTITUTIONALIZED INDIVIDUALS WITH NONSPECIFIC DEVELOPMENTAL-DISABILITIES, American journal of medical genetics, 64(2), 1996, pp. 420-423
TRINUCLEOTIDE REPEATS AT THE FRAXF LOCUS - FREQUENCY AND DISTRIBUTIONIN THE GENERAL-POPULATION
Authors: HOLDEN JJA WALKER M CHALIFOUX M WHITE BN
Citation: Jja. Holden et al., TRINUCLEOTIDE REPEATS AT THE FRAXF LOCUS - FREQUENCY AND DISTRIBUTIONIN THE GENERAL-POPULATION, American journal of medical genetics, 64(2), 1996, pp. 424-427
REGIONAL LOCALIZATION OF AN X-LINKED MENTAL-RETARDATION GENE TO XP21.1-XP22.13 (MRX38)
Authors: SCHUTZ CK IVES EJ CHALIFOUX M MACLAREN L FARRELL S ROBINSON PD WHITE BN HOLDEN JJA
Citation: Ck. Schutz et al., REGIONAL LOCALIZATION OF AN X-LINKED MENTAL-RETARDATION GENE TO XP21.1-XP22.13 (MRX38), American journal of medical genetics, 64(1), 1996, pp. 89-96
FMR1 IN GLOBAL POPULATIONS
Authors: KUNST CB ZERYLNICK C KARICKHOFF L EICHLER E BULLARD J CHALIFOUX M HOLDEN JJA TORRONI A NELSON DL WARREN ST
Citation: Cb. Kunst et al., FMR1 IN GLOBAL POPULATIONS, American journal of human genetics, 58(3), 1996, pp. 513-522
ABSENCE OF LAMBDA-IMMUNOGLOBULIN SEQUENCES ON THE SUPERNUMERARY CHROMOSOME OF THE CAT-EYE-SYNDROME
Authors: HOUGH CA WHITE BN HOLDEN JJA
Citation: Ca. Hough et al., ABSENCE OF LAMBDA-IMMUNOGLOBULIN SEQUENCES ON THE SUPERNUMERARY CHROMOSOME OF THE CAT-EYE-SYNDROME, American journal of medical genetics, 58(3), 1995, pp. 277-281
CHARACTERIZATION OF A LYMPHOBLASTOID LINE DELETED FOR LAMBDA-IMMUNOGLOBULIN GENES
Authors: HOUGH CA WHITE BN HOLDEN JJA
Citation: Ca. Hough et al., CHARACTERIZATION OF A LYMPHOBLASTOID LINE DELETED FOR LAMBDA-IMMUNOGLOBULIN GENES, Immunogenetics, 41(6), 1995, pp. 359-365
CHROMOSOMAL FRAGILE SITES IN PATIENTS WITH BIPOLAR AFFECTIVE-DISORDER
Authors: KAPALANGA J ZHANG H WANG M WALDRON J LAWSON S ABRAHAM G OWEN J BENDENA W WHITE BN HOLDEN JJA
Citation: J. Kapalanga et al., CHROMOSOMAL FRAGILE SITES IN PATIENTS WITH BIPOLAR AFFECTIVE-DISORDER, American journal of human genetics, 57(4), 1995, pp. 659-659
LACK OF EXPANSION OF TRIPLET REPEATS IN THE FMR1, FRAXE, AND FRAXF GENES IN MULTIPLEX MALE FAMILIES WITH AUTISM AND PERVASIVE DEVELOPMENTALDISORDERS
Authors: HOLDEN JJA CHALIFOUX M JULIENINALSINGH C SCHUTZ C ROBINSON P WHITE BN BRYSON S MAHONEY W BARTOLUCCI G JONES MB SZATMARI P
Citation: Jja. Holden et al., LACK OF EXPANSION OF TRIPLET REPEATS IN THE FMR1, FRAXE, AND FRAXF GENES IN MULTIPLEX MALE FAMILIES WITH AUTISM AND PERVASIVE DEVELOPMENTALDISORDERS, American journal of human genetics, 57(4), 1995, pp. 1920-1920
ASSOCIATION BETWEEN MUTATION SIZE AND COGNITIVE BEHAVIORAL DEFICITS IN FRA(X) MALES - A PROSPECTIVE MULTICENTER STUDY/
Authors: FISCH GS CARPENTER N HOWARDPEEBLES PN MADDALENA A SIMENSEN R TARLETON J JULIENINALSINGH C CHALIFAUX M HOLDEN JJA
Citation: Gs. Fisch et al., ASSOCIATION BETWEEN MUTATION SIZE AND COGNITIVE BEHAVIORAL DEFICITS IN FRA(X) MALES - A PROSPECTIVE MULTICENTER STUDY/, American journal of human genetics, 57(4), 1995, pp. 1955-1955
THE FRAGILE-X PREMUTATION IN CARRIERS AND ITS EFFECT ON MUTATION SIZEIN OFFSPRING
Authors: FISCH GS SNOW K THIBODEAU SN CHALIFAUX M HOLDEN JJA NELSON DL HOWARDPEEBLES PN MADDALENA A
Citation: Gs. Fisch et al., THE FRAGILE-X PREMUTATION IN CARRIERS AND ITS EFFECT ON MUTATION SIZEIN OFFSPRING, American journal of human genetics, 56(5), 1995, pp. 1147-1155
LENGTH OF UNINTERRUPTED CGG REPEATS DETERMINES INSTABILITY IN THE FMR1 GENE
Authors: EICHLER EE HOLDEN JJA POPOVICH BW REISS AL SNOW K THIBODEAU SN RICHARDS CS WARD PA NELSON DL
Citation: Ee. Eichler et al., LENGTH OF UNINTERRUPTED CGG REPEATS DETERMINES INSTABILITY IN THE FMR1 GENE, Nature genetics, 8(1), 1994, pp. 88-94
RELIABILITY OF DIAGNOSTIC-ASSESSMENT OF NORMAL AND PREMUTATION STATUSIN THE FRAGILE-X-SYNDROME USING DNA TESTING
Authors: FISCH GS NELSON DL SNOW K THIBODEAU SN CHALIFOUX M HOLDEN JJA
Citation: Gs. Fisch et al., RELIABILITY OF DIAGNOSTIC-ASSESSMENT OF NORMAL AND PREMUTATION STATUSIN THE FRAGILE-X-SYNDROME USING DNA TESTING, American journal of medical genetics, 51(4), 1994, pp. 339-345
FRAGILE-X-SYNDROME A PERVASIVE DEVELOPMENTAL DISABILITY - COGNITIVE-ABILITY AND ADAPTIVE-BEHAVIOR IN MATES WITH THE FULL MUTATION
Authors: FISCH GS HOLDEN JJA SIMENSEN R CARPENTER N HOWARDPEEBLES PN MADDALENA A SANDGRUND A JACQUES JR MCGANN B
Citation: Gs. Fisch et al., FRAGILE-X-SYNDROME A PERVASIVE DEVELOPMENTAL DISABILITY - COGNITIVE-ABILITY AND ADAPTIVE-BEHAVIOR IN MATES WITH THE FULL MUTATION, American journal of medical genetics, 51(4), 1994, pp. 346-352
OBSTETRICAL AND GYNECOLOGICAL COMPLICATIONS IN FRAGILE-X CARRIERS - AMULTICENTER STUDY
Authors: SCHWARTZ CE DEAN J HOWARDPEEBLES PN BUGGE M MIKKELSEN M TOMMERUP N HULL C HAGERMAN R HOLDEN JJA STEVENSON RE
Citation: Ce. Schwartz et al., OBSTETRICAL AND GYNECOLOGICAL COMPLICATIONS IN FRAGILE-X CARRIERS - AMULTICENTER STUDY, American journal of medical genetics, 51(4), 1994, pp. 400-402
Risultati: 1-25 | 26-29