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Results: 1-25 | 26-28
Results: 1-25/28
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
ROBERTSONIAN TRANSLOCATIONS - WHAT ARE THE RISKS FOR UNIPARENTAL DISOMY
Authors: SHAFFER LG MCCASKILL C
Citation: Lg. Shaffer et C. Mccaskill, ROBERTSONIAN TRANSLOCATIONS - WHAT ARE THE RISKS FOR UNIPARENTAL DISOMY, Cytogenetics and cell genetics, 82(1-2), 1998, pp. 141-141
MOLECULAR ANALYSIS OF MOSAICISM FOR 2 DIFFERENT DE-NOVO ACROCENTRIC REARRANGEMENTS DEMONSTRATES DIVERSITY IN ROBERTSONIAN TRANSLOCATION FORMATION
Authors: BEREND SA CANUN S MCCASKILL C PAGE SL SHAFFER LG
Citation: Sa. Berend et al., MOLECULAR ANALYSIS OF MOSAICISM FOR 2 DIFFERENT DE-NOVO ACROCENTRIC REARRANGEMENTS DEMONSTRATES DIVERSITY IN ROBERTSONIAN TRANSLOCATION FORMATION, American journal of medical genetics, 80(3), 1998, pp. 252-259
SYSTEMATIC SEARCH FOR UNIPARENTAL DISOMY IN EARLY FETAL LOSSES - THE RESULTS AND A REVIEW OF THE LITERATURE
Authors: SHAFFER LG MCCASKILL C ADKINS K HASSOLD TJ
Citation: Lg. Shaffer et al., SYSTEMATIC SEARCH FOR UNIPARENTAL DISOMY IN EARLY FETAL LOSSES - THE RESULTS AND A REVIEW OF THE LITERATURE, American journal of medical genetics, 79(5), 1998, pp. 366-372
MOLECULAR ANALYSIS OF MOSAICISM FOR 2 DIFFERENT DE-NOVO ACROCENTRIC REARRANGEMENTS REVEALS DIVERSITY IN ROBERTSONIAN TRANSLOCATION FORMATION
Authors: BEREND SA CANUN S MCCASKILL C PAGE SL SHAFFER LG
Citation: Sa. Berend et al., MOLECULAR ANALYSIS OF MOSAICISM FOR 2 DIFFERENT DE-NOVO ACROCENTRIC REARRANGEMENTS REVEALS DIVERSITY IN ROBERTSONIAN TRANSLOCATION FORMATION, American journal of human genetics, 61(4), 1997, pp. 670-670
MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-14 IN AN INFANT WITH MILD DYSMORPHOLOGY AND CONFINED PLACENTAL MOSAICISM
Authors: WALGENBACH DD YANG SP MCCASKILL C SHAFFER LG TOWNER DR
Citation: Dd. Walgenbach et al., MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-14 IN AN INFANT WITH MILD DYSMORPHOLOGY AND CONFINED PLACENTAL MOSAICISM, American journal of human genetics, 61(4), 1997, pp. 2222-2222
CHROMOSOME 1P36 DELETIONS - THE CLINICAL PHENOTYPE AND MOLECULAR CHARACTERIZATION OF A COMMON NEWLY DELINEATED SYNDROME
Authors: SHAPRIA SK MCCASKILL C NORTHRUP H SPIKES AS ELDER FFB SUTTON VR KORENBERG JR GREENBERG F SHAFFER LG
Citation: Sk. Shapria et al., CHROMOSOME 1P36 DELETIONS - THE CLINICAL PHENOTYPE AND MOLECULAR CHARACTERIZATION OF A COMMON NEWLY DELINEATED SYNDROME, American journal of human genetics, 61(3), 1997, pp. 642-650
IS THERE AN ABNORMAL PHENOTYPE ASSOCIATED WITH MATERNAL ISODISOMY FORCHROMOSOME-2 IN THE PRESENCE OF 2 ISOCHROMOSOMES
Authors: SHAFFER LG MCCASKILL C EGLI CA BAKER JC JOHNSTON KM
Citation: Lg. Shaffer et al., IS THERE AN ABNORMAL PHENOTYPE ASSOCIATED WITH MATERNAL ISODISOMY FORCHROMOSOME-2 IN THE PRESENCE OF 2 ISOCHROMOSOMES, American journal of human genetics, 61(2), 1997, pp. 461-462
A CLINICAL AND MOLECULAR STUDY OF MOSAICISM FOR TRISOMY-17
Authors: SHAFFER LG MCCASKILL C HERSH JH GREENBERG F LUPSKI JR
Citation: Lg. Shaffer et al., A CLINICAL AND MOLECULAR STUDY OF MOSAICISM FOR TRISOMY-17, Human genetics, 97(1), 1996, pp. 69-72
ANALYSIS OF 9 PREGNANCIES WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY-2
Authors: SHAFFER LG LANGLOIS S MCCASKILL C MAIN DM ROBINSON WP BARRETT IJ KALOUSEK DK
Citation: Lg. Shaffer et al., ANALYSIS OF 9 PREGNANCIES WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY-2, Prenatal diagnosis, 16(10), 1996, pp. 899-905
COMPREHENSIVE 4-YEAR FOLLOW-UP ON A CASE OF MATERNAL HETERODISOMY FORCHROMOSOME-16
Authors: SCHNEIDER AS BISCHOFF FZ MCCASKILL C COADY ML STOPFER JE SHAFFER LG
Citation: As. Schneider et al., COMPREHENSIVE 4-YEAR FOLLOW-UP ON A CASE OF MATERNAL HETERODISOMY FORCHROMOSOME-16, American journal of medical genetics, 66(2), 1996, pp. 204-208
SHORT-LIMB DWARFISM AND HYPERTROPHIC CARDIOMYOPATHY IN A PATIENT WITHPATERNAL ISODISOMY-14 - 45,XY,IDIC(14)(P11)
Authors: WALTER CA SHAFFER LG KAYE CI HUFF RW GHIDONI PD MCCASKILL C MCFARLAND MB MOORE CM
Citation: Ca. Walter et al., SHORT-LIMB DWARFISM AND HYPERTROPHIC CARDIOMYOPATHY IN A PATIENT WITHPATERNAL ISODISOMY-14 - 45,XY,IDIC(14)(P11), American journal of medical genetics, 65(4), 1996, pp. 259-265
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
MOLECULAR CHARACTERIZATION OF DE-NOVO SECONDARY TRISOMY-13
Authors: SHAFFER LG MCCASKILL C HAN JY CUTILLO DM DONNENFELD AE WEISS L VANDYKE DL
Citation: Lg. Shaffer et al., MOLECULAR CHARACTERIZATION OF DE-NOVO SECONDARY TRISOMY-13, Cytogenetics and cell genetics, 69(1-2), 1995, pp. 115-115
EFFECTS OF HIGH CHOLESTEROL AND N-3 POLYUNSATURATED FISH-OIL DIETS ONTISSUE AND SERUM-LIPID COMPOSITION IN MALE-RATS
Authors: CAMERON JA MCCASKILL C KODAVANTI PRS WOLFE F DOUGLAS B CAMERON ME DESAIAH D
Citation: Ja. Cameron et al., EFFECTS OF HIGH CHOLESTEROL AND N-3 POLYUNSATURATED FISH-OIL DIETS ONTISSUE AND SERUM-LIPID COMPOSITION IN MALE-RATS, International journal for vitamin and nutrition research, 65(3), 1995, pp. 215-220
IDENTIFICATION OF A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-10 ASSOCIATED WITH CONFINED PLACENTAL MOSAICISM
Authors: JONES C BOOTH C RITA D JAZMINES L SPIRO R MCCULLOCH B MCCASKILL C SHAFFER LG
Citation: C. Jones et al., IDENTIFICATION OF A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-10 ASSOCIATED WITH CONFINED PLACENTAL MOSAICISM, Prenatal diagnosis, 15(9), 1995, pp. 843-848
SINGLE-CELL ANALYSIS OF MOSAIC TRISOMY-21 - ORIGIN AND MECHANISMS OF MOSAICISM
Authors: MCCASKILL C SUBRAMANIAN S HUGHES M SHAFFER LG
Citation: C. Mccaskill et al., SINGLE-CELL ANALYSIS OF MOSAIC TRISOMY-21 - ORIGIN AND MECHANISMS OF MOSAICISM, American journal of human genetics, 57(4), 1995, pp. 254-254
PARTIAL PATERNAL ISODISOMY-14 - EVIDENCE FOR A MITOTIC ORIGIN OF A ROBERTSONIAN TRANSLOCATION WITH SOMATIC RECOMBINATION
Authors: WALTER CA SHAFFER LG KAYE CI HUFF RW MCCASKILL C GHIDONI PD MCFARLAND MB MOORE CM
Citation: Ca. Walter et al., PARTIAL PATERNAL ISODISOMY-14 - EVIDENCE FOR A MITOTIC ORIGIN OF A ROBERTSONIAN TRANSLOCATION WITH SOMATIC RECOMBINATION, American journal of human genetics, 57(4), 1995, pp. 729-729
ANALYSIS OF THE D7S849 LOCUS IN WILLIAMS-SYNDROME PATIENTS NARROWS THE CRITICAL DELETION REGION AND EXCLUDES CACNL2A
Authors: NICKERSON E MCCASKILL C GREENBERG F SHAFFER LG
Citation: E. Nickerson et al., ANALYSIS OF THE D7S849 LOCUS IN WILLIAMS-SYNDROME PATIENTS NARROWS THE CRITICAL DELETION REGION AND EXCLUDES CACNL2A, American journal of human genetics, 57(4), 1995, pp. 1546-1546
IDENTIFICATION OF A CASE OF MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-10 ASSOCIATED WITH CONFINED PLACENTAL MOSAICISM AND NORMAL OUTCOME
Authors: SHAFFER LG BOOTH C RITA D JAZMINES L SPIRO R MCCULLOUGH B MCCASKILL C JONES C
Citation: Lg. Shaffer et al., IDENTIFICATION OF A CASE OF MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-10 ASSOCIATED WITH CONFINED PLACENTAL MOSAICISM AND NORMAL OUTCOME, American journal of human genetics, 57(4), 1995, pp. 1675-1675
DELETIONS OF THE ELASTIN GENE AT 7Q11.23 OCCUR IN SIMILAR-TO-90-PERCENT OF PATIENTS WITH WILLIAMS-SYNDROME
Authors: NICKERSON E GREENBERG F KEATING MT MCCASKILL C SHAFFER LG
Citation: E. Nickerson et al., DELETIONS OF THE ELASTIN GENE AT 7Q11.23 OCCUR IN SIMILAR-TO-90-PERCENT OF PATIENTS WITH WILLIAMS-SYNDROME, American journal of human genetics, 56(5), 1995, pp. 1156-1161
ALTERED CHOLINERGIC CONTROL OF GLUCOSE-TOLERANCE
Authors: SCHNEIDER M FEINGLOS M MCCASKILL C SURWIT R
Citation: M. Schneider et al., ALTERED CHOLINERGIC CONTROL OF GLUCOSE-TOLERANCE, Diabetes, 43, 1994, pp. 10000052-10000052
VERY-LOW MATERNAL SERUM CHORIONIC-GONADOTROPIN LEVELS IN ASSOCIATION WITH FETAL TRIPLOIDY
Authors: SCHMIDT D SHAFFER LG MCCASKILL C ROSE E GREENBERG F
Citation: D. Schmidt et al., VERY-LOW MATERNAL SERUM CHORIONIC-GONADOTROPIN LEVELS IN ASSOCIATION WITH FETAL TRIPLOIDY, American journal of obstetrics and gynecology, 170(1), 1994, pp. 77-80
MOLECULAR CHARACTERIZATION OF DE-NOVO SECONDARY TRISOMY-13
Authors: SHAFFER LG MCCASKILL C HAN JY CHOO KHA CUTILLO DM DONNENFELD AE WEISS L VANDYKE DL
Citation: Lg. Shaffer et al., MOLECULAR CHARACTERIZATION OF DE-NOVO SECONDARY TRISOMY-13, American journal of human genetics, 55(5), 1994, pp. 968-974
PRENATAL-DIAGNOSIS AND CLINICAL FINDINGS IN A CASE OF HEXASOMY 12P
Authors: MACHA ME VANDENVEYVER IB MCCASKILL C CARPENTER RJ SHAFFER LG
Citation: Me. Macha et al., PRENATAL-DIAGNOSIS AND CLINICAL FINDINGS IN A CASE OF HEXASOMY 12P, Cytogenetics and cell genetics, 63(4), 1993, pp. 256-256
Risultati: 1-25 | 26-28