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Results: 1-16 |
Results: 16
OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM
Authors: SCHNUR RE GAO M WICK PA KELLER M BENKE PJ EDWARDS MJ GRIX AW HOCKEY A JUNG JH KIDD KK KISTENMACHER M LEVIN AV LEWIS RA MUSARELLA MA NOWAKOWSKI RW ORLOW SJ PAGON RS PILLERS DAM PUNNETT HH QUINN GE TEZCAN K WAGSTAFF J WELEBER RG
Citation: Re. Schnur et al., OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM, American journal of human genetics, 62(4), 1998, pp. 800-809
IDENTIFICATION OF MICRODELETIONS SPANNING THE DIAMOND-BLACKFAN ANEMIALOCUS ON 19Q13 AND EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: GUSTAVSSON P GARELLI E DRAPTCHINSKAIA N BALL S WILLIG TN TENTLER D DIANZANI I PUNNETT HH SHAFER FE CARIO H RAMENGHI U GLOMSTEIN A PFEIFFER RA GORINGE A OLIVIERI NF SMIBERT E TCHERNIA G ELINDER G DAHL N
Citation: P. Gustavsson et al., IDENTIFICATION OF MICRODELETIONS SPANNING THE DIAMOND-BLACKFAN ANEMIALOCUS ON 19Q13 AND EVIDENCE FOR GENETIC-HETEROGENEITY, American journal of human genetics, 63(5), 1998, pp. 1388-1395
CHARACTERIZATION OF 10P DELETIONS SUGGESTS 2 NONOVERLAPPING REGIONS CONTRIBUTE TO THE DIGEORGE-SYNDROME PHENOTYPE
Authors: GOTTLIEB S DRISCOLL DA PUNNETT HH SELLINGER B EMANUEL BS BUDARF ML
Citation: S. Gottlieb et al., CHARACTERIZATION OF 10P DELETIONS SUGGESTS 2 NONOVERLAPPING REGIONS CONTRIBUTE TO THE DIGEORGE-SYNDROME PHENOTYPE, American journal of human genetics, 62(2), 1998, pp. 495-498
PRENATAL-DIAGNOSIS OF THE 22Q11 DELETION SYNDROME
Authors: DAVIDSON A KHANDELWAL M PUNNETT HH
Citation: A. Davidson et al., PRENATAL-DIAGNOSIS OF THE 22Q11 DELETION SYNDROME, Prenatal diagnosis, 17(4), 1997, pp. 380-383
PCR ANALYSIS OF CHROMOSOMAL-ABNORMALITIES IN REHO-1, A PRE-B LEUKEMIC-CELL LINE
Authors: ENGLE JC PUNNETT HH FINVER SN
Citation: Jc. Engle et al., PCR ANALYSIS OF CHROMOSOMAL-ABNORMALITIES IN REHO-1, A PRE-B LEUKEMIC-CELL LINE, American journal of human genetics, 61(4), 1997, pp. 2116-2116
MOLECULAR CHARACTERIZATION OF BREAKPOINTS IN PATIENTS WITH HOLOPROSENCEPHALY AND DEFINITION OF THE HPE2 CRITICAL REGION 2P21
Authors: SCHELL U WIENBERG J KOHLER A BRAYWARD P WARD DE WILSON WG ALLEN WP LEBEL RR SAWYER JR CAMPBELL PL AUGHTON DJ PUNNETT HH LAMMER EJ KAO FT WARD DC MUENKE M
Citation: U. Schell et al., MOLECULAR CHARACTERIZATION OF BREAKPOINTS IN PATIENTS WITH HOLOPROSENCEPHALY AND DEFINITION OF THE HPE2 CRITICAL REGION 2P21, Human molecular genetics, 5(2), 1996, pp. 223-229
SIMPSON-GOLABI-BEHMEL SYNDROME - GENOTYPE PHENOTYPE ANALYSIS OF 18 AFFECTED MALES FROM 7 UNRELATED FAMILIES/
Authors: HUGHESBENZIE RM PILIA G XUAN JY HUNTER AGW CHEN E GOLABI M HURST JA KOBORI J MARYMEE K PAGON RA PUNNETT HH SCHELLEY S TOLMIE JL WOHLFERD MM GROSSMAN T SCHLESSINGER D MACKENZIE AE
Citation: Rm. Hughesbenzie et al., SIMPSON-GOLABI-BEHMEL SYNDROME - GENOTYPE PHENOTYPE ANALYSIS OF 18 AFFECTED MALES FROM 7 UNRELATED FAMILIES/, American journal of medical genetics, 66(2), 1996, pp. 227-234
HYPERDIPLOIDY AND TRISOMY-12 IN THE CYSTIC PARTIALLY DIFFERENTIATED NEPHROBLASTOMA
Authors: DECHADAREVIAN JP PUNNETT HH BILLMIRE DF TOMCZAK EZ
Citation: Jp. Dechadarevian et al., HYPERDIPLOIDY AND TRISOMY-12 IN THE CYSTIC PARTIALLY DIFFERENTIATED NEPHROBLASTOMA, Human pathology, 27(9), 1996, pp. 980-981
CHARACTERIZATION OF ALTERNATIVE AMINO-ACID SUBSTITUTIONS AT ARGININE-830 OF THE ANDROGEN RECEPTOR THAT CAUSE COMPLETE ANDROGEN INSENSITIVITY IN 3 FAMILIES
Authors: SHKOLNY DL BROWN TR PUNNETT HH KAUFMAN M TRIFIRO MA PINSKY L
Citation: Dl. Shkolny et al., CHARACTERIZATION OF ALTERNATIVE AMINO-ACID SUBSTITUTIONS AT ARGININE-830 OF THE ANDROGEN RECEPTOR THAT CAUSE COMPLETE ANDROGEN INSENSITIVITY IN 3 FAMILIES, Human molecular genetics, 4(4), 1995, pp. 515-521
MUTATIONS IN SOX9, THE GENE RESPONSIBLE FOR CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL
Authors: KWOK C WELLER PA GUIOLI S FOSTER JW MANSOUR S ZUFFARDI O PUNNETT HH DOMINGUEZSTEGLICH MA BROOK JD YOUNG ID GOODFELLOW PN SCHAFER AJ
Citation: C. Kwok et al., MUTATIONS IN SOX9, THE GENE RESPONSIBLE FOR CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL, American journal of human genetics, 57(5), 1995, pp. 1028-1036
MUTATIONS AT THE PAX6 LOCUS ARE FOUND IN HETEROGENEOUS ANTERIOR SEGMENT MALFORMATIONS INCLUDING PETERS ANOMALY
Authors: HANSON IM FLETCHER JM JORDAN T BROWN A TAYLOR D ADAMS RJ PUNNETT HH VANHEYNINGEN V
Citation: Im. Hanson et al., MUTATIONS AT THE PAX6 LOCUS ARE FOUND IN HETEROGENEOUS ANTERIOR SEGMENT MALFORMATIONS INCLUDING PETERS ANOMALY, Nature genetics, 6(2), 1994, pp. 168-173
CYTOGENETIC ANALYSIS OF A CHOROID-PLEXUS PAPILLOMA
Authors: PUNNETT HH TOMCZAK EW DECHADAREVIAN JP KANEV PM
Citation: Hh. Punnett et al., CYTOGENETIC ANALYSIS OF A CHOROID-PLEXUS PAPILLOMA, Genes, chromosomes & cancer, 10(4), 1994, pp. 282-285
3 UNRELATED INDIVIDUALS WITH PERINATALLY LETHAL OSTEOGENESIS-IMPERFECTA RESULTING FROM IDENTICAL GLY502SER SUBSTITUTIONS IN THE ALPHA-2-CHAIN OF TYPE-I COLLAGEN
Authors: ROSE NJ MACKAY K DEPAEPE A STEINMANN B PUNNETT HH DALGLEISH R
Citation: Nj. Rose et al., 3 UNRELATED INDIVIDUALS WITH PERINATALLY LETHAL OSTEOGENESIS-IMPERFECTA RESULTING FROM IDENTICAL GLY502SER SUBSTITUTIONS IN THE ALPHA-2-CHAIN OF TYPE-I COLLAGEN, Human genetics, 94(5), 1994, pp. 497-503
SIMPSON-GOLABI-BEHMEL SYNDROME (SGBS) IN A FEMALE WITH AN X-AUTOSOME TRANSLOCATION
Authors: PUNNETT HH
Citation: Hh. Punnett, SIMPSON-GOLABI-BEHMEL SYNDROME (SGBS) IN A FEMALE WITH AN X-AUTOSOME TRANSLOCATION, American journal of medical genetics, 50(4), 1994, pp. 391-393
CHROMOSOME 1 CHARCOT-MARIE-TOOTH DISEASE (CMT1B) LOCUS IN THE FC-GAMMA RECEPTOR GENE REGION (VOL 88, PG 1, 1991)
Authors: LEBO RV CHANCE PF DYCK PJ REDILAFLORES MT LYNCH ED GOLBUS MS BIRD TD KING MC ANDERSON LA HALL J WIEGANT J JIANG ZR DAZIN PF PUNNETT HH SCHONBERG SA MOORE K SHULL MM GENDLER S HURKO O LOVELACE RE LATOV N TROFATTER J CONNEALLY PM
Citation: Rv. Lebo et al., CHROMOSOME 1 CHARCOT-MARIE-TOOTH DISEASE (CMT1B) LOCUS IN THE FC-GAMMA RECEPTOR GENE REGION (VOL 88, PG 1, 1991), Human genetics, 91(3), 1993, pp. 301-301
PERICENTRIC-INVERSION OF CHROMOSOME-11 WITH INFERTILITY IN FEMALE CARRIERS
Authors: PUNNETT HH
Citation: Hh. Punnett, PERICENTRIC-INVERSION OF CHROMOSOME-11 WITH INFERTILITY IN FEMALE CARRIERS, American journal of human genetics, 53(3), 1993, pp. 590-590
Risultati: 1-16 |