AAAAAA

   
Results: 1-25 | 26-29
Results: 1-25/29
BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE
Authors: DUCLOS F BROUX O BOURG N STRAUB V FELDMAN GL SUNADA Y LIM LE PICCOLO F CUTSHALL S GARY F QUETIER F KAPLAN JC JACKSON CE BECKMANN JS CAMPBELL KP
Citation: F. Duclos et al., BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE, Neuromuscular disorders, 8(1), 1998, pp. 30-38
MUTATION ANALYSIS OF THE HFE GENE ASSOCIATED WITH HEREDITARY HEMOCHROMATOSIS IN AFRICAN-AMERICANS
Authors: MONAGHAN KG RYBICKI BA SHURAFA M FELDMAN GL
Citation: Kg. Monaghan et al., MUTATION ANALYSIS OF THE HFE GENE ASSOCIATED WITH HEREDITARY HEMOCHROMATOSIS IN AFRICAN-AMERICANS, American journal of hematology, 58(3), 1998, pp. 213-217
PATERNAL UNIPARENTAL DISOMY 13 INVOLVING ISOCHROMOSOMES
Authors: BEREND SA MCCASKILL C CZARNECKI P FELDMAN GL VANDYKE DL SHAFFER LG
Citation: Sa. Berend et al., PATERNAL UNIPARENTAL DISOMY 13 INVOLVING ISOCHROMOSOMES, Cytogenetics and cell genetics, 82(1-2), 1998, pp. 140-141
FETAL ECHOGENIC BOWEL AND A DILATED LOOP OF BOWEL ASSOCIATED WITH CYSTIC-FIBROSIS (CF) MUTATIONS DELTA-F508 AND 2183AA-]G
Authors: RUSH PW VATS S ALLITTO BA QURESHI F FELDMAN GL
Citation: Pw. Rush et al., FETAL ECHOGENIC BOWEL AND A DILATED LOOP OF BOWEL ASSOCIATED WITH CYSTIC-FIBROSIS (CF) MUTATIONS DELTA-F508 AND 2183AA-]G, Prenatal diagnosis, 18(6), 1998, pp. 638-640
PRADER-WILLI-LIKE-SYNDROME IN A PATIENT WITH AN XQ23Q25 DUPLICATION
Authors: MONAGHAN KG VANDYKE DL FELDMAN GL
Citation: Kg. Monaghan et al., PRADER-WILLI-LIKE-SYNDROME IN A PATIENT WITH AN XQ23Q25 DUPLICATION, American journal of medical genetics, 80(3), 1998, pp. 227-231
A MOTHER WITH VCFS AND UNILATERAL DYSPLASTIC KIDNEY AND HER FETUS WITH MULTICYSTIC DYSPLASTIC KIDNEYS - ADDITIONAL EVIDENCE TO SUPPORT THE ASSOCIATION OF RENAL MALFORMATIONS AND VCFS
Authors: CZARNECKI PM VANDYKE DL FELDMAN GL
Citation: Pm. Czarnecki et al., A MOTHER WITH VCFS AND UNILATERAL DYSPLASTIC KIDNEY AND HER FETUS WITH MULTICYSTIC DYSPLASTIC KIDNEYS - ADDITIONAL EVIDENCE TO SUPPORT THE ASSOCIATION OF RENAL MALFORMATIONS AND VCFS, Journal of Medical Genetics, 35(4), 1998, pp. 348-348
CYSTIC-FIBROSIS TRANSMEMBRANE-CONDUCTANCE REGULATOR MUTATIONS AMONG AFRICAN-AMERICANS
Authors: FRIEDMAN KJ LEIGH MW CZARNECKI P FELDMAN GL
Citation: Kj. Friedman et al., CYSTIC-FIBROSIS TRANSMEMBRANE-CONDUCTANCE REGULATOR MUTATIONS AMONG AFRICAN-AMERICANS, American journal of human genetics, 62(1), 1998, pp. 195-196
CYTOGENETIC AND CLINICAL FINDINGS IN A PATIENT WITH A DELETION OF 16Q23.1 - FIRST REPORT OF BILATERAL CATARACTS AND A 16Q DELETION
Authors: MONAGHAN KG VANDYKE DL WIKTOR A FELDMAN GL
Citation: Kg. Monaghan et al., CYTOGENETIC AND CLINICAL FINDINGS IN A PATIENT WITH A DELETION OF 16Q23.1 - FIRST REPORT OF BILATERAL CATARACTS AND A 16Q DELETION, American journal of medical genetics, 73(2), 1997, pp. 180-183
SATELLITED CHROMOSOME-10 DETECTED PRENATALLY IN FETUS AND MOSAIC IN APARENT
Authors: OMALLEY DP DIEHN T BULLARD B NETZLOFF ML VANDYKE DL FELDMAN GL LEDBETTER D LESE C PRECHT K STORTO P
Citation: Dp. Omalley et al., SATELLITED CHROMOSOME-10 DETECTED PRENATALLY IN FETUS AND MOSAIC IN APARENT, American journal of human genetics, 61(4), 1997, pp. 913-913
MUTATION ANALYSIS OF THE HLA-H GENE ASSOCIATED WITH HEREDITARY HEMOCHROMATOSIS IN AFRICAN-AMERICANS
Authors: MONAGHAN KG RYBICKI B SHURAFA M FELDMAN GL
Citation: Kg. Monaghan et al., MUTATION ANALYSIS OF THE HLA-H GENE ASSOCIATED WITH HEREDITARY HEMOCHROMATOSIS IN AFRICAN-AMERICANS, American journal of human genetics, 61(4), 1997, pp. 2262-2262
DNA STUDIES OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A IN THE AMISH EXCLUDE A MODIFYING MITOCHONDRIAL GENE AND SHOW NO EVIDENCE FOR A MODIFYING NUCLEAR GENE
Authors: PRATT VM JACKSON CE WALLACE DC GURLEY DS FEIT A FELDMAN GL
Citation: Vm. Pratt et al., DNA STUDIES OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A IN THE AMISH EXCLUDE A MODIFYING MITOCHONDRIAL GENE AND SHOW NO EVIDENCE FOR A MODIFYING NUCLEAR GENE, American journal of human genetics, 61(1), 1997, pp. 231-233
DIAGNOSIS OF MULTIPLE ENDOCRINE NEOPLASIA [MEN] 2A, 2B AND FAMILIAL MEDULLARY-THYROID CANCER [FMTC] BY MULTIPLEX PCR AND HETERODUPLEX ANALYSES OF RET PROTOONCOGENE MUTATIONS
Authors: KAMBOURIS M JACKSON CE FELDMAN GL
Citation: M. Kambouris et al., DIAGNOSIS OF MULTIPLE ENDOCRINE NEOPLASIA [MEN] 2A, 2B AND FAMILIAL MEDULLARY-THYROID CANCER [FMTC] BY MULTIPLEX PCR AND HETERODUPLEX ANALYSES OF RET PROTOONCOGENE MUTATIONS, Human mutation, 8(1), 1996, pp. 64-70
COMPARISON OF FREQUENCY OF LOH FOR BRCA1 IN AFRICAN-AMERICAN AND EUROPEAN-AMERICAN WOMEN WITH STAGE-III AND STAGE-IV BREAST-CANCER
Authors: WORSHAM MJ WOLMAN SR JOHNSON CC RAJU U BLOUNT A ABRAMS J NATHANSON SD ZARBO RJ MERAVJER SD VANDYKE DL FELDMAN GL
Citation: Mj. Worsham et al., COMPARISON OF FREQUENCY OF LOH FOR BRCA1 IN AFRICAN-AMERICAN AND EUROPEAN-AMERICAN WOMEN WITH STAGE-III AND STAGE-IV BREAST-CANCER, The FASEB journal, 10(6), 1996, pp. 2407-2407
SEGREGATION OF THE FRAGILE-X MUTATION FROM A MALE WITH A FULL MUTATION - UNUSUAL SOMATIC INSTABILITY IN THE FMR-1 LOCUS
Authors: KAMBOURIS M SNOW K THIBODEAU S BLUHM D GREEN M FELDMAN GL
Citation: M. Kambouris et al., SEGREGATION OF THE FRAGILE-X MUTATION FROM A MALE WITH A FULL MUTATION - UNUSUAL SOMATIC INSTABILITY IN THE FMR-1 LOCUS, American journal of medical genetics, 64(2), 1996, pp. 404-407
METHODS FOR EVALUATING A PROPOSED SCREENING PROTOCOL FOR MYOTONIC-DYSTROPHY
Authors: MUHICH AL SCHIFFMAN RM FELDMAN GL STEEN D
Citation: Al. Muhich et al., METHODS FOR EVALUATING A PROPOSED SCREENING PROTOCOL FOR MYOTONIC-DYSTROPHY, Investigative ophthalmology & visual science, 37(3), 1996, pp. 3489-3489
FAMILIAL PREDISPOSITION TO NEUROBLASTOMA DOES NOT MAP TO CHROMOSOME BAND 1P36
Authors: MARIS JM KYEMBA SM REBBECK TR WHITE PS SULMAN EP JENSEN SJ ALLEN C BIEGEL JA YANOFSKY RA FELDMAN GL BRODEUR GM
Citation: Jm. Maris et al., FAMILIAL PREDISPOSITION TO NEUROBLASTOMA DOES NOT MAP TO CHROMOSOME BAND 1P36, Cancer research, 56(15), 1996, pp. 3421-3425
SINGLE-CELL ANALYSIS DEMONSTRATING SOMATIC MOSAICISM INVOLVING 11P INA PATIENT WITH PATERNAL ISODISOMY AND BECKWITH-WIEDEMANN SYNDROME
Authors: BISCHOFF FZ FELDMAN GL MCCASKILL C SUBRAMANIAN S HUGHES MR SHAFFER LG
Citation: Fz. Bischoff et al., SINGLE-CELL ANALYSIS DEMONSTRATING SOMATIC MOSAICISM INVOLVING 11P INA PATIENT WITH PATERNAL ISODISOMY AND BECKWITH-WIEDEMANN SYNDROME, Human molecular genetics, 4(3), 1995, pp. 395-399
RELATIONSHIP OF FAMILIAL PROMINENT CORNEAL NERVES AND LESIONS OF THE TONGUE RESEMBLING NEUROMAS TO MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B
Authors: DENNEHY PJ FELDMAN GL KAMBOURIS M OMALLEY ER SANDERS CY JACKSON CE
Citation: Pj. Dennehy et al., RELATIONSHIP OF FAMILIAL PROMINENT CORNEAL NERVES AND LESIONS OF THE TONGUE RESEMBLING NEUROMAS TO MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B, American journal of ophthalmology, 120(4), 1995, pp. 456-461
DIAGNOSIS OF MULTIPLE ENDOCRINE NEOPLASIA [MEN] 2A, 2B AND FAMILIAL MEDULLARY-THYROID CANCER [FMTC] BY MULTIPLEX PCR AND HETERODUPLEX ANALYSES OF RET PROTOONCOGENE MUTATIONS
Authors: KAMBOURIS M JACKSON CE FELDMAN GL
Citation: M. Kambouris et al., DIAGNOSIS OF MULTIPLE ENDOCRINE NEOPLASIA [MEN] 2A, 2B AND FAMILIAL MEDULLARY-THYROID CANCER [FMTC] BY MULTIPLEX PCR AND HETERODUPLEX ANALYSES OF RET PROTOONCOGENE MUTATIONS, American journal of human genetics, 57(4), 1995, pp. 362-362
IDENTIFICATION BY FISH OF A DEL(22)(Q13.3) IN A PATIENT WITH A DE-NOVO 22QS KARYOTYPE
Authors: FELDMAN GL WIKTOR A CONARD J VANDYKE DL
Citation: Gl. Feldman et al., IDENTIFICATION BY FISH OF A DEL(22)(Q13.3) IN A PATIENT WITH A DE-NOVO 22QS KARYOTYPE, American journal of human genetics, 57(4), 1995, pp. 631-631
MAPPING OF 10Q MICROSATELLITE REPEATS USING A DE-NOVO INVERTED TANDEMDUPLICATION 10Q25-Q26.2
Authors: WORSHAM MJ VANDYKE DL JABS EW CZARNECKI P FELDMAN GL
Citation: Mj. Worsham et al., MAPPING OF 10Q MICROSATELLITE REPEATS USING A DE-NOVO INVERTED TANDEMDUPLICATION 10Q25-Q26.2, American journal of human genetics, 57(4), 1995, pp. 1904-1904
SEARCH FOR EVIDENCE OF DIGENIC INHERITANCE OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A) IN THE NORTHERN INDIANA AND PENNSYLVANIA AMISH POPULATION
Authors: PRATT VM RICHARD I BECKMANN JS JACKSON CE FELDMAN GL
Citation: Vm. Pratt et al., SEARCH FOR EVIDENCE OF DIGENIC INHERITANCE OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A) IN THE NORTHERN INDIANA AND PENNSYLVANIA AMISH POPULATION, American journal of human genetics, 57(4), 1995, pp. 1974-1974
A DE-NOVO MUTATION OF THE RET PROTOONCOGENE IN A PATIENT WITH MEN 2A
Authors: MULLIGAN LM ENG C HEALEY CS PONDER MA FELDMAN GL LI PZ JACKSON CE PONDER BAJ
Citation: Lm. Mulligan et al., A DE-NOVO MUTATION OF THE RET PROTOONCOGENE IN A PATIENT WITH MEN 2A, Human molecular genetics, 3(6), 1994, pp. 1007-1008
10P DUPLICATION CHARACTERIZED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: WIKTOR A FELDMAN GL KRATKOCZKI P DITMARS DM VANDYKE DL
Citation: A. Wiktor et al., 10P DUPLICATION CHARACTERIZED BY FLUORESCENCE IN-SITU HYBRIDIZATION, American journal of medical genetics, 52(3), 1994, pp. 315-318
CLINICAL-VALUE OF DIRECT DNA ANALYSIS OF THE RET PROTOONCOGENE IN FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A
Authors: FELDMAN GL KAMBOURIS M TALPOS GB MULLIGAN LM PONDER BAJ JACKSON CE
Citation: Gl. Feldman et al., CLINICAL-VALUE OF DIRECT DNA ANALYSIS OF THE RET PROTOONCOGENE IN FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A, Surgery, 116(6), 1994, pp. 1042-1047
Risultati: 1-25 | 26-29