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Results: 1-16 |
Results: 16
PREFERENTIAL PRE-MESSENGER-RNA UTILIZATION OF AN UPSTREAM CRYPTIC 5'-SPLICE-SITE CREATED BY A SINGLE-BASE DELETION MUTATION IN EXON-37 OF THE FBN-1 GENE
Authors: GIBSON MA ELLIS SL ADES LC HAAN E CLEARY EG
Citation: Ma. Gibson et al., PREFERENTIAL PRE-MESSENGER-RNA UTILIZATION OF AN UPSTREAM CRYPTIC 5'-SPLICE-SITE CREATED BY A SINGLE-BASE DELETION MUTATION IN EXON-37 OF THE FBN-1 GENE, European journal of biochemistry, 256(1), 1998, pp. 221-228
SYRINGOHYDROMYELIA WITH VAN-BUCHEM-DISEASE - COMMENT
Authors: ADES LC
Citation: Lc. Ades, SYRINGOHYDROMYELIA WITH VAN-BUCHEM-DISEASE - COMMENT, American journal of neuroradiology, 18(2), 1997, pp. 393-394
CHARACTERIZATION OF AN FBN1 GENE MUTATION, G1013R, IN A CHILD WITH NEONATAL MARFAN-SYNDROME (NMFS) AND MITOCHONDRIAL COMPLEX (CI) DEFICIENCY
Authors: ADES LC HOLMAN KJ WATSON KC MURRELL M CLARKE JTR CHRISTODOULOU J
Citation: Lc. Ades et al., CHARACTERIZATION OF AN FBN1 GENE MUTATION, G1013R, IN A CHILD WITH NEONATAL MARFAN-SYNDROME (NMFS) AND MITOCHONDRIAL COMPLEX (CI) DEFICIENCY, American journal of human genetics, 61(4), 1997, pp. 2367-2367
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
CLINICOPATHOLOGICAL FINDINGS IN CONGENITAL ANEURYSMS OF THE GREAT-VESSELS
Authors: ADES LC KNIGHT WB BYARD RW BATEMAN JF ESQUIVEL JAD MEE RBB HAAN EA MILEWICZ DM
Citation: Lc. Ades et al., CLINICOPATHOLOGICAL FINDINGS IN CONGENITAL ANEURYSMS OF THE GREAT-VESSELS, American journal of medical genetics, 66(3), 1996, pp. 289-299
MARFAN-SYNDROME IN ABORIGINALS
Authors: ADES LC
Citation: Lc. Ades, MARFAN-SYNDROME IN ABORIGINALS, Medical journal of Australia, 164(1), 1996, pp. 54-55
CHARACTERIZATION OF 4 NOVEL FIBRILLIN-1 (FBN1) MUTATIONS IN MARFAN-SYNDROME
Authors: ADES LC HAAN EA COLLEY AF RICHARDS RI
Citation: Lc. Ades et al., CHARACTERIZATION OF 4 NOVEL FIBRILLIN-1 (FBN1) MUTATIONS IN MARFAN-SYNDROME, Journal of Medical Genetics, 33(8), 1996, pp. 665-671
LOCALIZATION OF CRANIOSYNOSTOSIS ADELAIDE TYPE TO 4P16
Authors: HOLLWAY GE PHILLIPS HA ADES LC HAAN EA MULLEY JC
Citation: Ge. Hollway et al., LOCALIZATION OF CRANIOSYNOSTOSIS ADELAIDE TYPE TO 4P16, Human molecular genetics, 4(4), 1995, pp. 681-683
DISTINCT SKELETAL ABNORMALITIES IN 4 GIRLS WITH SHPRINTZEN-GOLDBERG SYNDROME
Authors: ADES LC MORRIS LL POWER RC WILSON M HAAN EA BATEMAN JF MILEWICZ DM SILLENCE DO
Citation: Lc. Ades et al., DISTINCT SKELETAL ABNORMALITIES IN 4 GIRLS WITH SHPRINTZEN-GOLDBERG SYNDROME, American journal of medical genetics, 57(4), 1995, pp. 565-572
MYOCARDIAL-INFARCTION RESULTING FROM CORONARY-ARTERY DISSECTION IN ANADOLESCENT WITH EHLERS-DANLOS SYNDROME TYPE-IV DUE TO A TYPE-III COLLAGEN MUTATION
Authors: ADES LC WALTHAM RD CHIODO AA BATEMAN JF
Citation: Lc. Ades et al., MYOCARDIAL-INFARCTION RESULTING FROM CORONARY-ARTERY DISSECTION IN ANADOLESCENT WITH EHLERS-DANLOS SYNDROME TYPE-IV DUE TO A TYPE-III COLLAGEN MUTATION, British Heart Journal, 74(2), 1995, pp. 112-116
OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITHDEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE
Authors: GEDEON AK KEINANEN M ADES LC KAARIAINEN H GECZ J BAKER E SUTHERLAND GR MULLEY JC
Citation: Ak. Gedeon et al., OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITHDEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE, American journal of human genetics, 56(4), 1995, pp. 907-914
JACKSON-WEISS SYNDROME - CLINICAL AND RADIOLOGICAL FINDINGS IN A LARGE KINDRED AND EXCLUSION OF THE GENE FROM 7P21 AND 5QTER
Authors: ADES LC MULLAY JC SENGA IP MORRIS LL DAVID DJ HAAN EA
Citation: Lc. Ades et al., JACKSON-WEISS SYNDROME - CLINICAL AND RADIOLOGICAL FINDINGS IN A LARGE KINDRED AND EXCLUSION OF THE GENE FROM 7P21 AND 5QTER, American journal of medical genetics, 51(2), 1994, pp. 121-130
NEUROLOGICAL INVOLVEMENT IN WORTH TYPE ENDOSTEAL HYPEROSTOSIS - REPORT OF A FAMILY
Authors: ADES LC MORRIS LL BURNS R HAAN EA
Citation: Lc. Ades et al., NEUROLOGICAL INVOLVEMENT IN WORTH TYPE ENDOSTEAL HYPEROSTOSIS - REPORT OF A FAMILY, American journal of medical genetics, 51(1), 1994, pp. 46-50
POLYDACTYLY, CAMPOMELIA, AMBIGUOUS GENITALIA, CYSTIC DYSPLASTIC KIDNEYS, AND CEREBRAL MALFORMATION IN A FETUS OF CONSANGUINEOUS PARENTS - ANEW MULTIPLE MALFORMATION SYNDROME, OR A SEVERE FORM OF ORAL-FACIAL-DIGITAL SYNDROME TYPE-IV
Authors: ADES LC CLAPTON WK MORPHETT A MORRIS LL HAAN EA
Citation: Lc. Ades et al., POLYDACTYLY, CAMPOMELIA, AMBIGUOUS GENITALIA, CYSTIC DYSPLASTIC KIDNEYS, AND CEREBRAL MALFORMATION IN A FETUS OF CONSANGUINEOUS PARENTS - ANEW MULTIPLE MALFORMATION SYNDROME, OR A SEVERE FORM OF ORAL-FACIAL-DIGITAL SYNDROME TYPE-IV, American journal of medical genetics, 49(2), 1994, pp. 211-217
AN X-LINKED RETICULATE PIGMENTARY DISORDER WITH SYSTEMIC MANIFESTATIONS - REPORT OF A 2ND FAMILY
Authors: ADES LC ROGERS M SILLENCE DO
Citation: Lc. Ades et al., AN X-LINKED RETICULATE PIGMENTARY DISORDER WITH SYSTEMIC MANIFESTATIONS - REPORT OF A 2ND FAMILY, Pediatric dermatology, 10(4), 1993, pp. 344-351
CONGENITAL HEART MALFORMATION IN YUNIS-VARON SYNDROME
Authors: ADES LC MORRIS LL RICHARDSON M PEARSON C HAAN EA
Citation: Lc. Ades et al., CONGENITAL HEART MALFORMATION IN YUNIS-VARON SYNDROME, Journal of Medical Genetics, 30(9), 1993, pp. 788-792
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