AAAAAA

   
Results: 1-22 |
Results: 22
FISH ANALYSIS OF A COMPLEX CHROMOSOME REARRANGEMENT INVOLVING 9 BREAKPOINTS ON CHROMOSOME-6, CHROMOSOME-12, CHROMOSOME-14 AND CHROMOSOME-16
Authors: PHELAN MC BLACKBURN W ROGERS RC CRAWFORD EC COOLEY NR SCHROCK E NING Y RIED T
Citation: Mc. Phelan et al., FISH ANALYSIS OF A COMPLEX CHROMOSOME REARRANGEMENT INVOLVING 9 BREAKPOINTS ON CHROMOSOME-6, CHROMOSOME-12, CHROMOSOME-14 AND CHROMOSOME-16, Prenatal diagnosis, 18(11), 1998, pp. 1174-1180
AUTISM AND MATERNALLY DERIVED ABERRATIONS OF CHROMOSOME 15Q
Authors: SCHROER RJ PHELAN MC MICHAELIS RC CRAWFORD EC SKINNER SA CUCCARO M SIMENSEN RJ BISHOP J SKINNER C FENDER D STEVENSON RE
Citation: Rj. Schroer et al., AUTISM AND MATERNALLY DERIVED ABERRATIONS OF CHROMOSOME 15Q, American journal of medical genetics, 76(4), 1998, pp. 327-336
MOST JACOBSEN-SYNDROME DELETION BREAKPOINTS OCCUR DISTAL TO FRA11B
Authors: MICHAELIS RC VELAGALETI GVN JONES C PIVNICK EK PHELAN MC BOYD E TARLETON J WILROY RS TUNNACLIFFE A THARAPEL AT
Citation: Rc. Michaelis et al., MOST JACOBSEN-SYNDROME DELETION BREAKPOINTS OCCUR DISTAL TO FRA11B, American journal of medical genetics, 76(3), 1998, pp. 222-228
VASCULAR ANASTOMOSES LEADING TO AMELIA AND CUTIS APLASIA IN DIZYGOTICTWIN PREGNANCY
Authors: PHELAN MC GEER JS BLACKBURN WR
Citation: Mc. Phelan et al., VASCULAR ANASTOMOSES LEADING TO AMELIA AND CUTIS APLASIA IN DIZYGOTICTWIN PREGNANCY, Clinical genetics, 53(2), 1998, pp. 126-130
SPECTRAL KARYOTYPING REFINES CYTOGENETIC DIAGNOSTICS OF CONSTITUTIONAL CHROMOSOMAL-ABNORMALITIES
Authors: SCHROCK E VELDMAN T PADILLANASH H NING Y SPURBECK J JALAL S SHAFFER LG PAPENHAUSEN P KOZMA C PHELAN MC KJELDSEN E SCHONBERG SA OBRIEN P BIESECKER L DUMANOIR S RIED T
Citation: E. Schrock et al., SPECTRAL KARYOTYPING REFINES CYTOGENETIC DIAGNOSTICS OF CONSTITUTIONAL CHROMOSOMAL-ABNORMALITIES, Human genetics, 101(3), 1997, pp. 255-262
INTERSITIAL DELETION OF 20P - NEW CANDIDATE REGION FOR HIRSCHSPRUNG-DISEASE AND AUTISM
Authors: MICHAELIS RC SKINNER SA DEASON R SKINNER C MOORE CL PHELAN MC
Citation: Rc. Michaelis et al., INTERSITIAL DELETION OF 20P - NEW CANDIDATE REGION FOR HIRSCHSPRUNG-DISEASE AND AUTISM, American journal of medical genetics, 71(3), 1997, pp. 298-304
A DELETION IN THE LONG ARM OF CHROMOSOME-18 IN A CHILD WITH SERUM CARNOSINASE DEFICIENCY
Authors: WILLI SM ZHANG YZ HILL JB PHELAN MC MICHAELIS RC HOLDEN KR
Citation: Sm. Willi et al., A DELETION IN THE LONG ARM OF CHROMOSOME-18 IN A CHILD WITH SERUM CARNOSINASE DEFICIENCY, Pediatric research, 41(2), 1997, pp. 210-213
SPECTRAL KARYOTYPING REFINES CYTOGENETIC DIAGNOSTICS OF CONSTITUTIONAL CHROMOSOMAL-ABNORMALITIES
Authors: SCHROCK E VELDMAN T PADILLANASH H NING Y SPURBECK J JALAL S SHAFFER LG PAPENHAUSEN P KOZMA C PHELAN MC KJELDSEN E SCHONBERG SA OBRIEN P BIESECKER L DUMANOIR S RIED T
Citation: E. Schrock et al., SPECTRAL KARYOTYPING REFINES CYTOGENETIC DIAGNOSTICS OF CONSTITUTIONAL CHROMOSOMAL-ABNORMALITIES, American journal of human genetics, 61(4), 1997, pp. 796-796
UNUSUAL CHROMOSOMAL REARRANGEMENTS IN 2 PATIENTS WITH FEATURES OF PRADER-WILLI-SYNDROME
Authors: MICHAELIS RC TARLETON J RICHTER B STEVENSON RE DONAHUE RP HAUN R QUINTELA N PHELAN MC
Citation: Rc. Michaelis et al., UNUSUAL CHROMOSOMAL REARRANGEMENTS IN 2 PATIENTS WITH FEATURES OF PRADER-WILLI-SYNDROME, American journal of medical genetics, 62(3), 1996, pp. 5-5
DELETION OF 15Q11-]Q13 IN A MOTHER AND SON WITHOUT FEATURES OF PRADER-WILLI OR ANGELMAN SYNDROME
Authors: PHELAN MC MICHAELIS RC TARLETON JC DONLON TA SKINNER SA
Citation: Mc. Phelan et al., DELETION OF 15Q11-]Q13 IN A MOTHER AND SON WITHOUT FEATURES OF PRADER-WILLI OR ANGELMAN SYNDROME, Cytogenetics and cell genetics, 69(1-2), 1995, pp. 116-116
PRENATAL-DIAGNOSIS OF MOSAIC 4P - IN A FETUS WITH TRISOMY-21
Authors: PHELAN MC SAUL RA GAILEY TA SKINNER SA
Citation: Mc. Phelan et al., PRENATAL-DIAGNOSIS OF MOSAIC 4P - IN A FETUS WITH TRISOMY-21, Prenatal diagnosis, 15(3), 1995, pp. 274-277
ALBRIGHT HEREDITARY OSTEODYSTROPHY AND DEL(2)(Q37.3) IN 4 UNRELATED INDIVIDUALS
Authors: PHELAN MC ROGERS RC CLARKSON KB BOWYER FP LEVINE MA ESTABROOKS LL SEVERSON MC DOBYNS WB
Citation: Mc. Phelan et al., ALBRIGHT HEREDITARY OSTEODYSTROPHY AND DEL(2)(Q37.3) IN 4 UNRELATED INDIVIDUALS, American journal of medical genetics, 58(1), 1995, pp. 1-7
PARACENTRIC INVERSIONS IN HUMANS - A REVIEW OF 446 PARACENTRIC INVERSIONS WITH PRESENTATION OF 120 NEW CASES
Authors: PETTENATI MJ RAO PN PHELAN MC GRASS F RAO KW COSPER P CARROLL AJ ELDER F SMITH JL HIGGINS MD LANMAN JT HIGGINS RR BUTLER MG LUTHARDT F KEITGES E JACKSONCOOK C BROWN J SCHWARTZ S VANDYKE DL PALMER CG
Citation: Mj. Pettenati et al., PARACENTRIC INVERSIONS IN HUMANS - A REVIEW OF 446 PARACENTRIC INVERSIONS WITH PRESENTATION OF 120 NEW CASES, American journal of medical genetics, 55(2), 1995, pp. 171-187
DELETION INVOLVING D15S113 IN A MOTHER AND SON WITHOUT ANGELMAN-SYNDROME - REFINEMENT OF THE ANGELMAN-SYNDROME CRITICAL DELETION REGION
Authors: MICHAELIS RC SKINNER SA LETHCO BA SIMENSEN RJ DONLON TA TARLETON J PHELAN MC
Citation: Rc. Michaelis et al., DELETION INVOLVING D15S113 IN A MOTHER AND SON WITHOUT ANGELMAN-SYNDROME - REFINEMENT OF THE ANGELMAN-SYNDROME CRITICAL DELETION REGION, American journal of medical genetics, 55(1), 1995, pp. 120-126
SPLIT FOOD AND DEVELOPMENTAL RETARDATION ASSOCIATED WITH A DELETION OF 3 MICROSATELLITE MARKERS IN 7Q21.2-Q22.1
Authors: MARINONI JC STEVENSON RE EVANS JP GESHURI D PHELAN MC SCHWARTZ CE
Citation: Jc. Marinoni et al., SPLIT FOOD AND DEVELOPMENTAL RETARDATION ASSOCIATED WITH A DELETION OF 3 MICROSATELLITE MARKERS IN 7Q21.2-Q22.1, Clinical genetics, 47(2), 1995, pp. 90-95
INTERSTITIAL DUPLICATION AND TRIPLICATION OF 15Q11-Q13 CONFIRMED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: CRAWFORD EC LETHCO BA BEALER D SCHROER RJ CLARKSON KB PHELAN MC
Citation: Ec. Crawford et al., INTERSTITIAL DUPLICATION AND TRIPLICATION OF 15Q11-Q13 CONFIRMED BY FLUORESCENCE IN-SITU HYBRIDIZATION, American journal of human genetics, 57(4), 1995, pp. 618-618
ASYMMETRY OF METHYLATION WITH FMR-1 FULL MUTATION IN 2 45,X 46,XX MOSAIC FEMALES ASSOCIATED WITH NORMAL INTELLECT/
Authors: SHAPIRO LR SIMENSEN RJ WILMOT PL FISCH GS VIBERT BK FENWICK RG TARLETON J PHELAN MC
Citation: Lr. Shapiro et al., ASYMMETRY OF METHYLATION WITH FMR-1 FULL MUTATION IN 2 45,X 46,XX MOSAIC FEMALES ASSOCIATED WITH NORMAL INTELLECT/, American journal of medical genetics, 51(4), 1994, pp. 507-508
BRACHMANN-DELANGE SYNDROME - DIAGNOSTIC DIFFICULTIES POSED BY THE MILD PHENOTYPE
Authors: SAUL RA ROGERS RC PHELAN MC STEVENSON RE
Citation: Ra. Saul et al., BRACHMANN-DELANGE SYNDROME - DIAGNOSTIC DIFFICULTIES POSED BY THE MILD PHENOTYPE, American journal of medical genetics, 47(7), 1993, pp. 999-1002
INVERTED DUPLICATION OF 8P - 10 NEW PATIENTS AND REVIEW OF THE LITERATURE
Authors: FELDMAN GL WEISS L PHELAN MC SCHROER RJ VANDYKE DL
Citation: Gl. Feldman et al., INVERTED DUPLICATION OF 8P - 10 NEW PATIENTS AND REVIEW OF THE LITERATURE, American journal of medical genetics, 47(4), 1993, pp. 482-486
RECOMBINANT CHROMOSOME-9 POSSIBLY DERIVED FROM BREAKAGE AND REUNION OF SISTER CHROMATIDS WITHIN A PARACENTRIC INVERSION LOOP
Authors: PHELAN MC STEVENSON RE ANDERSON EV
Citation: Mc. Phelan et al., RECOMBINANT CHROMOSOME-9 POSSIBLY DERIVED FROM BREAKAGE AND REUNION OF SISTER CHROMATIDS WITHIN A PARACENTRIC INVERSION LOOP, American journal of medical genetics, 46(3), 1993, pp. 304-308
EVIDENCE THAT METHYLATION OF THE FMR-I LOCUS IS RESPONSIBLE FOR VARIABLE PHENOTYPIC-EXPRESSION OF THE FRAGILE-X SYNDROME
Authors: MCCONKIEROSELL A LACHIEWICZ AM SPIRIDIGLIOZZI GA TARLETON J SCHOENWALD S PHELAN MC GOONEWARDENA P DING XH BROWN WT
Citation: A. Mcconkierosell et al., EVIDENCE THAT METHYLATION OF THE FMR-I LOCUS IS RESPONSIBLE FOR VARIABLE PHENOTYPIC-EXPRESSION OF THE FRAGILE-X SYNDROME, American journal of human genetics, 53(4), 1993, pp. 800-809
ALBRIGHT HEREDITARY OSTEODYSTROPHY AND DEL(2)(Q37) IN 2 UNRELATED INDIVIDUALS
Authors: PHELAN MC ROGERS RC BYRD LK
Citation: Mc. Phelan et al., ALBRIGHT HEREDITARY OSTEODYSTROPHY AND DEL(2)(Q37) IN 2 UNRELATED INDIVIDUALS, American journal of human genetics, 53(3), 1993, pp. 484-484
Risultati: 1-22 |