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Results: 1-20 |
Results: 20
RENPENNING SYNDROME MAPS TO XP11
Authors: STEVENSON RE ARENA JF OUZTS E GIBSON A SHOKEIR MHK VNENCAKJONES C LUBS HA MAY M SCHWARTZ CE
Citation: Re. Stevenson et al., RENPENNING SYNDROME MAPS TO XP11, American journal of human genetics, 62(5), 1998, pp. 1092-1101
A PROMOTER MUTATION IN THE XIST GENE IN 2 UNRELATED FAMILIES WITH SKEWED X-CHROMOSOME INACTIVATION
Authors: PLENGE RM HENDRICH BD SCHWARTZ C ARENA JF NAUMOVA A SAPIENZA C WINTER RM WILLARD HF
Citation: Rm. Plenge et al., A PROMOTER MUTATION IN THE XIST GENE IN 2 UNRELATED FAMILIES WITH SKEWED X-CHROMOSOME INACTIVATION, Nature genetics, 17(3), 1997, pp. 353-356
A NEW X-LINKED RECESSIVE SYNDROME OF MENTAL-RETARDATION AND MILD DYSMORPHISM MAPS TO XQ28
Authors: PAI GS HANE B JOSEPH M NELSON R HAMMOND LS ARENA JF LUBS HA STEVENSON RE SCHWARTZ CE
Citation: Gs. Pai et al., A NEW X-LINKED RECESSIVE SYNDROME OF MENTAL-RETARDATION AND MILD DYSMORPHISM MAPS TO XQ28, Journal of Medical Genetics, 34(7), 1997, pp. 529-534
ARCH FINGERPRINTS, HYPOTONIA, AND AREFLEXIA ASSOCIATED WITH X-LINKED MENTAL-RETARDATION
Authors: STEVENSON RE HANE B ARENA JF MAY M LAWRENCE L LUBS HA SCHWARTZ CE
Citation: Re. Stevenson et al., ARCH FINGERPRINTS, HYPOTONIA, AND AREFLEXIA ASSOCIATED WITH X-LINKED MENTAL-RETARDATION, Journal of Medical Genetics, 34(6), 1997, pp. 465-469
INHERITED MUTATIONS IN PTEN THAT ARE ASSOCIATED WITH BREAST-CANCER, COWDEN-DISEASE, AND JUVENILE POLYPOSIS
Authors: LYNCH ED OSTERMEYER EA LEE MK ARENA JF JI HL DANN J SWISSHELM K SUCHARD D MACLEOD PM KVINNSLAND S GJERTSEN BT HEIMDAL K LUBS H MOLLER P KING MC
Citation: Ed. Lynch et al., INHERITED MUTATIONS IN PTEN THAT ARE ASSOCIATED WITH BREAST-CANCER, COWDEN-DISEASE, AND JUVENILE POLYPOSIS, American journal of human genetics, 61(6), 1997, pp. 1254-1260
A BRCA1 FOUNDER MUTATION IN AFRICAN-AMERICANS
Authors: ARENA JF SMITH S VINCEK V GAYOL L VILLEGAS F PERERA E KING MC SZABO C RESTREPO A LUBS H
Citation: Jf. Arena et al., A BRCA1 FOUNDER MUTATION IN AFRICAN-AMERICANS, American journal of human genetics, 61(4), 1997, pp. 66-66
X-LINKED MENTAL-RETARDATION WITH DYSMORPHIC FACIAL FEATURES, SEIZURES, HYPOGAMMAGLOBULINEMIA AND PROGRESSIVE GAIT DISTURBANCE IS REGIONALLYMAPPED BETWEEN XQ21.33 AND XQ23
Authors: CHUDLEY AE TACKELS DC LUBS HA ARENA JF STOEBER GP STEVENSON RE KOVNATS S SCHWARTZ CE
Citation: Ae. Chudley et al., X-LINKED MENTAL-RETARDATION WITH DYSMORPHIC FACIAL FEATURES, SEIZURES, HYPOGAMMAGLOBULINEMIA AND PROGRESSIVE GAIT DISTURBANCE IS REGIONALLYMAPPED BETWEEN XQ21.33 AND XQ23, American journal of human genetics, 61(4), 1997, pp. 522-522
X-LINKED MENTAL-RETARDATION WITH THIN HABITUS, OSTEOPOROSIS, AND KYPHOSCOLIOSIS - LINKAGE TO XP21.3-P22.12
Authors: ARENA JF SCHWARTZ C OUZTS L STEVENSON R MILLER M GARZA J NANCE M LUBS H
Citation: Jf. Arena et al., X-LINKED MENTAL-RETARDATION WITH THIN HABITUS, OSTEOPOROSIS, AND KYPHOSCOLIOSIS - LINKAGE TO XP21.3-P22.12, American journal of medical genetics, 64(1), 1996, pp. 50-58
XLMR GENES - UPDATE 1996
Authors: LUBS HA CHIURAZZI P ARENA JF SCHWARTZ C TRANEBJAERG L NERI G
Citation: Ha. Lubs et al., XLMR GENES - UPDATE 1996, American journal of medical genetics, 64(1), 1996, pp. 147-157
STUDY OF X-LINKED MENTAL-RETARDATION (XLMR) - SUMMARY OF 61 FAMILIES IN THE MIAMI GREENWOOD STUDY/
Authors: LUBS HA SCHWARTZ CE STEVENSON RE ARENA JF
Citation: Ha. Lubs et al., STUDY OF X-LINKED MENTAL-RETARDATION (XLMR) - SUMMARY OF 61 FAMILIES IN THE MIAMI GREENWOOD STUDY/, American journal of medical genetics, 64(1), 1996, pp. 169-175
NONSYNDROMIC X-LINKED MENTAL-RETARDATION - REVIEW AND MAPPING OF MRX29 TO XP21
Authors: HANE B SCHROER RJ ARENA JF LUBS HA SCHWARTZ CE STEVENSON RE
Citation: B. Hane et al., NONSYNDROMIC X-LINKED MENTAL-RETARDATION - REVIEW AND MAPPING OF MRX29 TO XP21, Clinical genetics, 50(4), 1996, pp. 176-183
MENTAL-RETARDATION AND VARIABLE SOMATIC FEATURES LINKED TO XQ13
Authors: SCHWARTZ CE HALL B OUZTS L ARENA JF CADLE R LUBS HA STEVENSON RE
Citation: Ce. Schwartz et al., MENTAL-RETARDATION AND VARIABLE SOMATIC FEATURES LINKED TO XQ13, Cytogenetics and cell genetics, 67(4), 1994, pp. 351-351
ALLAN-HERNDON-DUDLEY-SYNDROME - LINKAGE ANALYSIS IN A 3RD FAMILY AND REFINEMENT OF THE LOCALIZATION IN XQ21
Authors: SCHWARTZ CE MARTIN J OUZTS L ARENA JF LUBS HA STEVENSON RE
Citation: Ce. Schwartz et al., ALLAN-HERNDON-DUDLEY-SYNDROME - LINKAGE ANALYSIS IN A 3RD FAMILY AND REFINEMENT OF THE LOCALIZATION IN XQ21, Cytogenetics and cell genetics, 67(4), 1994, pp. 351-351
AARSKOG-SCOTT SYNDROME - CONFIRMATION OF LINKAGE TO THE PERICENTROMERIC REGION OF THE X-CHROMOSOME
Authors: STEVENSON RE MAY M ARENA JF MILLAR EA SCOTT CI SCHROER RJ SIMENSEN RJ LUBS HA SCHWARTZ CE
Citation: Re. Stevenson et al., AARSKOG-SCOTT SYNDROME - CONFIRMATION OF LINKAGE TO THE PERICENTROMERIC REGION OF THE X-CHROMOSOME, American journal of medical genetics, 52(3), 1994, pp. 339-345
X-LINKED MENTAL-RETARDATION - THE EARLY ERA FROM 1943 TO 1969
Authors: STEVENSON RE SCHWARTZ CE ARENA JF LUBS HA
Citation: Re. Stevenson et al., X-LINKED MENTAL-RETARDATION - THE EARLY ERA FROM 1943 TO 1969, American journal of medical genetics, 51(4), 1994, pp. 538-541
XLMR GENES - UPDATE 1994
Authors: NERI G CHIURAZZI P ARENA JF LUBS HA
Citation: G. Neri et al., XLMR GENES - UPDATE 1994, American journal of medical genetics, 51(4), 1994, pp. 542-549
RENPENNING SYNDROME - EVIDENCE FOR A PERICENTRIC LOCATION OF THE GENEIN 2 FAMILIES, INCLUDING THE ORIGINAL RENPENNING FAMILY
Authors: SCHWARTZ CE OUZTS L GIBSON A CADLE R ARENA JF BOYD E HALL B LUBS HA STEVENSON RE
Citation: Ce. Schwartz et al., RENPENNING SYNDROME - EVIDENCE FOR A PERICENTRIC LOCATION OF THE GENEIN 2 FAMILIES, INCLUDING THE ORIGINAL RENPENNING FAMILY, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 188-188
AARSKOG-SCOTT SYNDROME - LINKAGE ANALYSIS IN THE ORIGINAL SCOTT FAMILY CONFIRMS THE LOCATION OF THE GENE TO XP11.2-]Q12
Authors: SCHWARTZ CE MAY M SCHROER RJ ARENA JF LUBS HA STEVENSON RE
Citation: Ce. Schwartz et al., AARSKOG-SCOTT SYNDROME - LINKAGE ANALYSIS IN THE ORIGINAL SCOTT FAMILY CONFIRMS THE LOCATION OF THE GENE TO XP11.2-]Q12, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 188-188
RENPENNING SYNDROME - EVIDENCE FOR PERICENTRIC LOCATION OF THE GENE IN 2 FAMILIES, INCLUDING THE ORIGINAL RENPENNING FAMILY
Authors: SCHWARTZ CE OUZTS L GIBSON A CADLE R ARENA JF BOYD E HALL B LUBS HA STEVENSON RE
Citation: Ce. Schwartz et al., RENPENNING SYNDROME - EVIDENCE FOR PERICENTRIC LOCATION OF THE GENE IN 2 FAMILIES, INCLUDING THE ORIGINAL RENPENNING FAMILY, American journal of human genetics, 53(3), 1993, pp. 1073-1073
X-LINKED MENTAL-RETARDATION (XLMR) WITH DYSPHAGIA AND RECURRENT RESPIRATORY-INFECTIONS - ANOTHER NEW SYNDROME
Authors: ARENA JF BIER JB ABUELO D SCHWARTZ C STEVENSON R LUBS HA
Citation: Jf. Arena et al., X-LINKED MENTAL-RETARDATION (XLMR) WITH DYSPHAGIA AND RECURRENT RESPIRATORY-INFECTIONS - ANOTHER NEW SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1683-1683
Risultati: 1-20 |