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Results: 1-25 | 26-50 | 51-75 | 76-88
Results: 1-25/88
ALLELES OF APC MODULATE THE FREQUENCY AND CLASSES OF MUTATIONS THAT READ TO COLON POLYPS
Authors: SPIRIO LN SAMOWITZ W ROBERTSON J ROBERTSON M BURT RW LEPPERT M WHITE R
Citation: Ln. Spirio et al., ALLELES OF APC MODULATE THE FREQUENCY AND CLASSES OF MUTATIONS THAT READ TO COLON POLYPS, Nature genetics, 20(4), 1998, pp. 385-388
A NOVEL POTASSIUM CHANNEL GENE, KCNQ2, IS MUTATED IN AN INHERITED EPILEPSY OF NEWBORNS
Authors: SINGH NA CHARLIER C STAUFFER D DUPONT BR LEACH RJ MELIS R RONEN GM BJERRE I QUATTLEBAUM T MURPHY JV MCHARG ML GAGNON D ROSALES TO PEIFFER A ANDERSON VE LEPPERT M
Citation: Na. Singh et al., A NOVEL POTASSIUM CHANNEL GENE, KCNQ2, IS MUTATED IN AN INHERITED EPILEPSY OF NEWBORNS, Nature genetics, 18(1), 1998, pp. 25-29
A PORE MUTATION IN A NOVEL KQT-LIKE POTASSIUM CHANNEL GENE IN AN IDIOPATHIC EPILEPSY FAMILY
Authors: CHARLIER C SINGH NA RYAN SG LEWIS TB REUS BE LEACH RJ LEPPERT M
Citation: C. Charlier et al., A PORE MUTATION IN A NOVEL KQT-LIKE POTASSIUM CHANNEL GENE IN AN IDIOPATHIC EPILEPSY FAMILY, Nature genetics, 18(1), 1998, pp. 53-55
ANALYSIS OF MICROTUBULE-ASSOCIATED PROTEIN 1A GENE IN HEREDITARY SPASTIC PARAPLEGIA
Authors: RAINIER S JONES SM ESPOSITO C GUICE E OTTERUD B LEPPERT M FINK JK
Citation: S. Rainier et al., ANALYSIS OF MICROTUBULE-ASSOCIATED PROTEIN 1A GENE IN HEREDITARY SPASTIC PARAPLEGIA, Neurology, 51(5), 1998, pp. 1509-1510
GENETIC-MAPPING OF THE DENTINOGENESIS IMPERFECTA TYPE-III LOCUS
Authors: MACDOUGALL M FREI G JEFFORDS L GU TT OTTERUND B LEPPERT M LEACH R
Citation: M. Macdougall et al., GENETIC-MAPPING OF THE DENTINOGENESIS IMPERFECTA TYPE-III LOCUS, Journal of dental research, 77, 1998, pp. 416-416
GENETIC-MAPPING OF OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF THE SPINE
Authors: KOGA H SAKOU T TAKETOMI E HAYASHI K NUMASAWA T HARATA S YONE K MATSUNAGA S OTTERUD B INOUE I LEPPERT M
Citation: H. Koga et al., GENETIC-MAPPING OF OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF THE SPINE, American journal of human genetics, 62(6), 1998, pp. 1460-1467
PARENTAL ORIGIN-DEPENDENT, MALE OFFSPRING-SPECIFIC TRANSMISSION-RATIODISTORTION AT LOCI ON THE HUMAN X-CHROMOSOME
Authors: NAUMOVA AK LEPPERT M BARKER DF MORGAN K SAPIENZA C
Citation: Ak. Naumova et al., PARENTAL ORIGIN-DEPENDENT, MALE OFFSPRING-SPECIFIC TRANSMISSION-RATIODISTORTION AT LOCI ON THE HUMAN X-CHROMOSOME, American journal of human genetics, 62(6), 1998, pp. 1493-1499
MUTATIONS IN CYP1B1, THE GENE FOR CYTOCHROME P4501B1, ARE THE PREDOMINANT CAUSE OF PRIMARY CONGENITAL GLAUCOMA IN SAUDI-ARABIA
Authors: BEJJANI BA LEWIS RA TOMEY KF ANDERSON KL DUEKER DK JABAK M ASTLE WF OTTERUD B LEPPERT M LUPSKI JR
Citation: Ba. Bejjani et al., MUTATIONS IN CYP1B1, THE GENE FOR CYTOCHROME P4501B1, ARE THE PREDOMINANT CAUSE OF PRIMARY CONGENITAL GLAUCOMA IN SAUDI-ARABIA, American journal of human genetics, 62(2), 1998, pp. 325-333
A PHOTORECEPTOR CELL-SPECIFIC ATP-BINDING TRANSPORTER GENE (ABCR) IS MUTATED IN RECESSIVE STARGARDT MACULAR DYSTROPHY
Authors: ALLIKMETS R SINGH N SUN H SHROYER NE HUTCHINSON A CHIDAMBARAM A GERRARD B BAIRD L STAUFFER D PEIFFER A RATTNER A SMALLWOOD P LI YX ANDERSON KL LEWIS RA NATHANS J LEPPERT M DEAN M LUPSKI JR
Citation: R. Allikmets et al., A PHOTORECEPTOR CELL-SPECIFIC ATP-BINDING TRANSPORTER GENE (ABCR) IS MUTATED IN RECESSIVE STARGARDT MACULAR DYSTROPHY, Nature genetics, 15(3), 1997, pp. 236-246
A FAMILIAL PLATELET DISORDER WITH PROPENSITY TO DEVELOP ACUTE MYELOID-LEUKEMIA IS LINKED TO HUMAN-CHROMOSOME 21Q22.1-Q22.2
Authors: LEGARE RD HO CY OTTERUD B VARVIL T SAXENA R GALLAGHER M LU D DEHART D KOHLER S LI F LEPPERT M GILLILAND DG
Citation: Rd. Legare et al., A FAMILIAL PLATELET DISORDER WITH PROPENSITY TO DEVELOP ACUTE MYELOID-LEUKEMIA IS LINKED TO HUMAN-CHROMOSOME 21Q22.1-Q22.2, Cytogenetics and cell genetics, 79(1-2), 1997, pp. 51-52
MUTATION OF THE STARGARDT-DISEASE GENE (ABCR) IN AGE-RELATED MACULAR DEGENERATION
Authors: ALLIKMETS R SHROYER NF SINGH N SEDDON JM LEWIS RA BERNSTEIN PS PEIFFER A ZABRISKIE NA LI YX HUTCHINSON A DEAN M LUPSKI JR LEPPERT M
Citation: R. Allikmets et al., MUTATION OF THE STARGARDT-DISEASE GENE (ABCR) IN AGE-RELATED MACULAR DEGENERATION, Science, 277(5333), 1997, pp. 1805-1807
DO NON-INSULIN-DEPENDENT DIABETES-MELLITUS (NIDDM) AND INSULIN-DEPENDENT DIABETES-MELLITUS (IDDM) SHARE GENETIC SUSCEPTIBILITY LOCI - AN ANALYSIS OF PUTATIVE IDDM SUSCEPTIBILITY REGIONS IN FAMILIAL NIDDM
Authors: ELBEIN SC HOFFMAN MD MAYORGA RA BARRETT KL LEPPERT M HASSTEDT S
Citation: Sc. Elbein et al., DO NON-INSULIN-DEPENDENT DIABETES-MELLITUS (NIDDM) AND INSULIN-DEPENDENT DIABETES-MELLITUS (IDDM) SHARE GENETIC SUSCEPTIBILITY LOCI - AN ANALYSIS OF PUTATIVE IDDM SUSCEPTIBILITY REGIONS IN FAMILIAL NIDDM, Metabolism, clinical and experimental, 46(1), 1997, pp. 48-52
GASTRIC ADENOCARCINOMA AND DYSPLASIA IN FUNDIC GLAND POLYPS OF A PATIENT WITH ATTENUATED ADENOMATOUS POLYPOSIS-COLI
Authors: ZWICK A MUNIR M RYAN CK GIAN J BURT RW LEPPERT M SPIRIO L CHEY WY
Citation: A. Zwick et al., GASTRIC ADENOCARCINOMA AND DYSPLASIA IN FUNDIC GLAND POLYPS OF A PATIENT WITH ATTENUATED ADENOMATOUS POLYPOSIS-COLI, Gastroenterology, 113(2), 1997, pp. 659-663
UNCOUPLING PROTEIN-2 REGION ON CHROMOSOME 11Q13 IS NOT LINKED TO MARKERS OF OBESITY IN FAMILIAL TYPE-2 DIABETES
Authors: ELBEIN SC LEPPERT M HASSTEDT S
Citation: Sc. Elbein et al., UNCOUPLING PROTEIN-2 REGION ON CHROMOSOME 11Q13 IS NOT LINKED TO MARKERS OF OBESITY IN FAMILIAL TYPE-2 DIABETES, Diabetes, 46(12), 1997, pp. 2105-2107
LINKAGE OF FASTING GLUCOSE IN RELATIVES OF AN NIDDM SIB PAIR TO MARKERS ON CHROMOSOME 9P
Authors: ELBEIN S HOFFMAN M LEPPERT M HASSTEDT S
Citation: S. Elbein et al., LINKAGE OF FASTING GLUCOSE IN RELATIVES OF AN NIDDM SIB PAIR TO MARKERS ON CHROMOSOME 9P, Diabetes, 46, 1997, pp. 200-200
GENETIC-LINKAGE OF PAGET-DISEASE OF THE BONE TO CHROMOSOME 18Q
Authors: CODY JD SINGER FR ROODMAN GD OTTERUND B LEWIS TB LEPPERT M LEACH RJ
Citation: Jd. Cody et al., GENETIC-LINKAGE OF PAGET-DISEASE OF THE BONE TO CHROMOSOME 18Q, American journal of human genetics, 61(5), 1997, pp. 1117-1122
THE STARGARDT-DISEASE GENE (ABCR) IS MUTATED IN AGE-RELATED MACULAR DEGENERATION
Authors: ALLIKMETS R SHROYER NF SINGH N SEDDON JM LEWIS RA BERNSTEIN P PEIFFER A ZABRISKIE N LI Y HUTCHINSON A DEAN M LUPSKI JR LEPPERT M
Citation: R. Allikmets et al., THE STARGARDT-DISEASE GENE (ABCR) IS MUTATED IN AGE-RELATED MACULAR DEGENERATION, American journal of human genetics, 61(4), 1997, pp. 6-6
DUPLICATION XQ27-QTER AT XP22.3 IN A SEVERELY AFFECTED CHILD AND HIS PHENOTYPICALLY NORMAL MOTHER
Authors: GOODMAN BK LEPPERT M HARUM K RUTBERG J THOMAS GH GERAGHTY MT
Citation: Bk. Goodman et al., DUPLICATION XQ27-QTER AT XP22.3 IN A SEVERELY AFFECTED CHILD AND HIS PHENOTYPICALLY NORMAL MOTHER, American journal of human genetics, 61(4), 1997, pp. 717-717
CHARACTERIZATION OF A NEW ION-CHANNEL GENE CANDIDATE FOR BENIGN FAMILIAL NEONATAL CONVULSIONS
Authors: CHARLIER C SINGH N STAUFFER D ANDERSON VE LEPPERT M
Citation: C. Charlier et al., CHARACTERIZATION OF A NEW ION-CHANNEL GENE CANDIDATE FOR BENIGN FAMILIAL NEONATAL CONVULSIONS, American journal of human genetics, 61(4), 1997, pp. 1577-1577
MUTATIONS IN CYTOCHROME P450B1 (CYP1B1) AS THE MAIN CAUSE OF PRIMARY CONGENITAL GLAUCOMA (PCG) IN SAUDI-ARABIA AND ECUADOR
Authors: BEJJANI BA LEWIS RA ANDERSON KL TOMEY KF ASTLE WF DUEKER DK MOLINARI A OTTERUD B LEPPERT M LUPSKI JR
Citation: Ba. Bejjani et al., MUTATIONS IN CYTOCHROME P450B1 (CYP1B1) AS THE MAIN CAUSE OF PRIMARY CONGENITAL GLAUCOMA (PCG) IN SAUDI-ARABIA AND ECUADOR, American journal of human genetics, 61(4), 1997, pp. 1907-1907
GENOTYPE PHENOTYPE ANALYSIS OF A RETINAL SPECIFIC ABC TRANSPORTER GENE, ABCR, IN STARGARDT-DISEASE/
Authors: SHROYER NF SINGH N ALLIKMETS R HUTCHINSON A PEIFFER A LI YX LUPSKI JR LEPPERT M LEWIS RA
Citation: Nf. Shroyer et al., GENOTYPE PHENOTYPE ANALYSIS OF A RETINAL SPECIFIC ABC TRANSPORTER GENE, ABCR, IN STARGARDT-DISEASE/, American journal of human genetics, 61(4), 1997, pp. 2028-2028
ASSOCIATIONS BETWEEN COLON-CANCER AND ACETYLATION (NAT1 AND NAT2) GENOMES IN A LARGE POPULATION-BASED STUDY
Authors: JENKINS M BIGLER J KAMPMAN E CHEN C SLATTERY M LEPPERT M POTTER J
Citation: M. Jenkins et al., ASSOCIATIONS BETWEEN COLON-CANCER AND ACETYLATION (NAT1 AND NAT2) GENOMES IN A LARGE POPULATION-BASED STUDY, American journal of epidemiology, 145(11), 1997, pp. 270-270
A GENE FOR PRIMARY CONGENITAL GLAUCOMA IS NOT LINKED TO THE LOCUS ON CHROMOSOME 1Q FOR AUTOSOMAL-DOMINANT JUVENILE-ONSET OPEN-ANGLE GLAUCOMA
Authors: ANDERSON KL LEWIS RA BEJJANI BA BAIRD L OTTERUD B TOMEY KF ASTLE WF DUEKER DK LEPPERT M LUPSKI JR
Citation: Kl. Anderson et al., A GENE FOR PRIMARY CONGENITAL GLAUCOMA IS NOT LINKED TO THE LOCUS ON CHROMOSOME 1Q FOR AUTOSOMAL-DOMINANT JUVENILE-ONSET OPEN-ANGLE GLAUCOMA, Journal of glaucoma, 5(6), 1996, pp. 416-421
BILINEAL TRANSMISSION AND PHENOTYPIC VARIATION OF TOURETTES DISORDER IN A LARGE PEDIGREE
Authors: MCMAHON WM VANDEWETERING BJM FILLOUX F BETIT K COON H LEPPERT M
Citation: Wm. Mcmahon et al., BILINEAL TRANSMISSION AND PHENOTYPIC VARIATION OF TOURETTES DISORDER IN A LARGE PEDIGREE, Journal of the American Academy of Child and Adolescent Psychiatry, 35(5), 1996, pp. 672-680
DISCORDANCE OF THE MYELIN BASIC-PROTEIN GENE IN FAMILIAL MULTIPLE-SCLEROSIS
Authors: ROSE JW GERKEN S LYNCH S PISANI P HILL K OTTERUD B LEPPERT M
Citation: Jw. Rose et al., DISCORDANCE OF THE MYELIN BASIC-PROTEIN GENE IN FAMILIAL MULTIPLE-SCLEROSIS, Annals of neurology, 40(3), 1996, pp. 118-118
Risultati: 1-25 | 26-50 | 51-75 | 76-88