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Results: 1-16 |
Results: 16
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
LINKAGE ANALYSIS IN A FAMILY WITH THE OPITZ GBBB SYNDROME REFINES THELOCATION OF THE GENE IN XP22 TO A 4 CM REGION
Authors: MAY M HUSTON S WILROY RS SCHWARTZ C
Citation: M. May et al., LINKAGE ANALYSIS IN A FAMILY WITH THE OPITZ GBBB SYNDROME REFINES THELOCATION OF THE GENE IN XP22 TO A 4 CM REGION, American journal of medical genetics, 68(2), 1997, pp. 244-248
A UNIQUE POINT MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 GENE (FGFR3) DEFINES A NEW CRANIOSYNOSTOSIS SYNDROME
Authors: MUENKE M GRIPP KW MCDONALDMCGINN DM GAUDENZ K WHITAKER LA BARTLETT SP MARKOWITZ RI ROBIN NH NWOKORO N MULVIHILL JJ LOSKEN HW MULLIKEN JB GUTTMACHER AE WILROY RS CLARKE LA HOLLWAY G ADES LC HAAN EA MULLEY JC COHEN MM BELLUS GA FRANCOMANO CA MOLONEY DM WALL SA WILKIE AOM ZACKAI EH
Citation: M. Muenke et al., A UNIQUE POINT MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 GENE (FGFR3) DEFINES A NEW CRANIOSYNOSTOSIS SYNDROME, American journal of human genetics, 60(3), 1997, pp. 555-564
TYPE-3 PFEIFFER SYNDROME WITH NORMAL THUMBS
Authors: KERR NC WILROY RS KAUFMAN RA
Citation: Nc. Kerr et al., TYPE-3 PFEIFFER SYNDROME WITH NORMAL THUMBS, American journal of medical genetics, 66(2), 1996, pp. 138-143
GONADAL (OVARIAN) DYSGENESIS IN 46,XX INDIVIDUALS - FREQUENCY OF THE AUTOSOMAL RECESSIVE FORM
Authors: MEYERS CM BOUGHMAN JA RIVAS M WILROY RS SIMPSON JL
Citation: Cm. Meyers et al., GONADAL (OVARIAN) DYSGENESIS IN 46,XX INDIVIDUALS - FREQUENCY OF THE AUTOSOMAL RECESSIVE FORM, American journal of medical genetics, 63(4), 1996, pp. 518-524
HYPERTRICHOSIS, PIGMENTARY RETINOPATHY, AND FACIAL ANOMALIES - A NEW SYNDROME
Authors: PIVNICK EK WILROY RS MARTENS PR TEATHER TC HASHIMOTO K
Citation: Ek. Pivnick et al., HYPERTRICHOSIS, PIGMENTARY RETINOPATHY, AND FACIAL ANOMALIES - A NEW SYNDROME, American journal of medical genetics, 62(4), 1996, pp. 386-390
JACOBSEN-SYNDROME - REPORT OF A PATIENT WITH SEVERE EYE ANOMALIES, GROWTH-HORMONE DEFICIENCY, AND HYPOTHYROIDISM ASSOCIATED WITH DELETION-11(Q23Q25) AND REVIEW OF 52 CASES
Authors: PIVNICK EK VELAGALETI GVN WILROY RS SMITH ME ROSE SR TIPTON RE THARAPEL AT
Citation: Ek. Pivnick et al., JACOBSEN-SYNDROME - REPORT OF A PATIENT WITH SEVERE EYE ANOMALIES, GROWTH-HORMONE DEFICIENCY, AND HYPOTHYROIDISM ASSOCIATED WITH DELETION-11(Q23Q25) AND REVIEW OF 52 CASES, Journal of Medical Genetics, 33(9), 1996, pp. 772-778
NEOPLASMS IN PROTEUS SYNDROME
Authors: GORDON PL WILROY RS LASATER OE COHEN MM
Citation: Pl. Gordon et al., NEOPLASMS IN PROTEUS SYNDROME, American journal of medical genetics, 57(1), 1995, pp. 74-78
CHARACTERIZATION OF AN UNBALANCED DE-NOVO REARRANGEMENT BY MICROSATELLITE POLYMORPHISM TYPING AND BY FLUORESCENT IN-SITU HYBRIDIZATION
Authors: ZHAO J GORDON PL WILROY RS MARTENS PR TARLETON J SHULMAN LP SIMPSON JL ELIAS S THARAPEL AT
Citation: J. Zhao et al., CHARACTERIZATION OF AN UNBALANCED DE-NOVO REARRANGEMENT BY MICROSATELLITE POLYMORPHISM TYPING AND BY FLUORESCENT IN-SITU HYBRIDIZATION, American journal of medical genetics, 56(4), 1995, pp. 398-402
DEFINING THE PRECISE BREAKPOINTS IN DEL(11Q) BY MICROSATELLITE POLYMORPHISM AND IN-SITU HYBRIDIZATION (ISH)
Authors: MICHAELIS RC PIVNICK EK GOPALRAO VVN WILROY RS TARLETON J PATIL SR THARAPEL AT
Citation: Rc. Michaelis et al., DEFINING THE PRECISE BREAKPOINTS IN DEL(11Q) BY MICROSATELLITE POLYMORPHISM AND IN-SITU HYBRIDIZATION (ISH), American journal of human genetics, 57(4), 1995, pp. 675-675
LINKAGE OF PFEIFFER-SYNDROME TO CHROMOSOME-8 CENTROMERE AND EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: ROBIN NH FELDMAN GJ MITCHELL HF LORENZ P WILROY RS ZACKAI EH ALLANSON JE REICH EW PFEIFFER RA CLARKE LA WARMAN ML MULLIKEN JB BRUETON LA WINTER RM PRICE RA GASSER DL MUENKE M
Citation: Nh. Robin et al., LINKAGE OF PFEIFFER-SYNDROME TO CHROMOSOME-8 CENTROMERE AND EVIDENCE FOR GENETIC-HETEROGENEITY, Human molecular genetics, 3(12), 1994, pp. 2153-2158
ISOLATION AND CHARACTERIZATION OF THE FACIOGENITAL DYSPLASIA (AARSKOG-SCOTT SYNDROME) GENE - A PUTATIVE RHO RAC GUANINE-NUCLEOTIDE EXCHANGEFACTOR/
Authors: PASTERIS NG CADLE A LOGIE LJ PORTEOUS MEM SCHWARTZ CE STEVENSON RE GLOVER TW WILROY RS GORSKI JL
Citation: Ng. Pasteris et al., ISOLATION AND CHARACTERIZATION OF THE FACIOGENITAL DYSPLASIA (AARSKOG-SCOTT SYNDROME) GENE - A PUTATIVE RHO RAC GUANINE-NUCLEOTIDE EXCHANGEFACTOR/, Cell, 79(4), 1994, pp. 669-678
ISOLATION AND ANALYSIS OF THE FACIOGENITAL DYSPLASIA (AARSKOG-SCOTT SYNDROME) GENE - A PUTATIVE RHO RAC GUANINE-NUCLEOTIDE EXCHANGE FACTOR/
Authors: PASTERIS NG CADLE A LOGIE LJ PORTEOUS M SCHWARTZ CE STEVENSON RE GLOVER TW WILROY RS GORSKI JL
Citation: Ng. Pasteris et al., ISOLATION AND ANALYSIS OF THE FACIOGENITAL DYSPLASIA (AARSKOG-SCOTT SYNDROME) GENE - A PUTATIVE RHO RAC GUANINE-NUCLEOTIDE EXCHANGE FACTOR/, American journal of human genetics, 55(3), 1994, pp. 10000003-10000003
PRENATAL-DIAGNOSIS OF ISOLATED BILATERAL MICROPHTHALMIA WITH CONFIRMATION BY EVALUATION OF PRODUCTS OF CONCEPTION OBTAINED BY DILATION AND EVACUATION
Authors: SHULMAN LP GORDON PL EMERSON DS WILROY RS ELIAS S
Citation: Lp. Shulman et al., PRENATAL-DIAGNOSIS OF ISOLATED BILATERAL MICROPHTHALMIA WITH CONFIRMATION BY EVALUATION OF PRODUCTS OF CONCEPTION OBTAINED BY DILATION AND EVACUATION, Prenatal diagnosis, 13(5), 1993, pp. 403-409
ELUDICATION OF THE CENTROMERE INVOLVEMENT IN AN INVERSION(13) BY FLUORESCENT INSITU HYBRIDIZATION
Authors: GORDON PL DALTON JD MARTENS PR THARAPEL AT WILROY RS
Citation: Pl. Gordon et al., ELUDICATION OF THE CENTROMERE INVOLVEMENT IN AN INVERSION(13) BY FLUORESCENT INSITU HYBRIDIZATION, Journal of Medical Genetics, 30(5), 1993, pp. 414-416
COMBINED USE OF PCR, FISH AND SOUTHERN BLOT ANALYSES DEFINES THE ORIGIN AND COMPOSITION OF A DE-NOVO UNBALANCED TRANSLOCATION
Authors: ZHAO J GORDON PL MARTENS PR DALTON JD WILROY RS THARAPEL AT
Citation: J. Zhao et al., COMBINED USE OF PCR, FISH AND SOUTHERN BLOT ANALYSES DEFINES THE ORIGIN AND COMPOSITION OF A DE-NOVO UNBALANCED TRANSLOCATION, American journal of human genetics, 53(3), 1993, pp. 632-632
Risultati: 1-16 |