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Results: 1-25 | 26-27
Results: 1-25/27
FETAL SMITH-LEMLI-OPITZ SYNDROME CAN BE DETECTED ACCURATELY AND RELIABLY BY MEASURING AMNIOTIC-FLUID DEHYDROCHOLESTEROLS
Authors: TINT GS ABUELO D TILL M CORDIER MP BATTA AK SHEFER S HONDA A HONDA M XU GR IRONS M ELIAS ER SALEN G
Citation: Gs. Tint et al., FETAL SMITH-LEMLI-OPITZ SYNDROME CAN BE DETECTED ACCURATELY AND RELIABLY BY MEASURING AMNIOTIC-FLUID DEHYDROCHOLESTEROLS, Prenatal diagnosis, 18(7), 1998, pp. 651-658
DEVELOPMENTAL DELAY AND GROWTH FAILURE CAUSED BY A PEROXISOMAL DISORDER, DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE (DHAP-AT) DEFICIENCY
Authors: ELIAS ER MOBASSALEH M HAJRA AK MOSER AB
Citation: Er. Elias et al., DEVELOPMENTAL DELAY AND GROWTH FAILURE CAUSED BY A PEROXISOMAL DISORDER, DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE (DHAP-AT) DEFICIENCY, American journal of medical genetics, 80(3), 1998, pp. 223-226
CHOLESTEROL SUPPLEMENTATION IN SMITH-LEMLI-OPITZ-SYNDROME - REPLY
Authors: ELIAS ER
Citation: Er. Elias, CHOLESTEROL SUPPLEMENTATION IN SMITH-LEMLI-OPITZ-SYNDROME - REPLY, American journal of medical genetics, 78(4), 1998, pp. 379-380
NEW RECESSIVE SYNDROME CHARACTERIZED BY INCREASED CHROMOSOMAL BREAKAGE AND SEVERAL FINDINGS WHICH OVERLAP WITH FANCONI-ANEMIA
Authors: GIAMPIETRO PF AUERBACH AD ELIAS ER GUTMAN A ZELLERS NJ DAVIS JG
Citation: Pf. Giampietro et al., NEW RECESSIVE SYNDROME CHARACTERIZED BY INCREASED CHROMOSOMAL BREAKAGE AND SEVERAL FINDINGS WHICH OVERLAP WITH FANCONI-ANEMIA, American journal of medical genetics, 78(1), 1998, pp. 70-75
SKELETAL ANOMALIES AND DEFORMITIES IN PATIENTS WITH DELETIONS OF 22Q11
Authors: MING JE MCDONALDMCGINN DM MEGERIAN TE DRISCOLL DA ELIAS ER RUSSELL BM IRONS M EMANUEL BS MARKOWITZ RI ZACKAI EH
Citation: Je. Ming et al., SKELETAL ANOMALIES AND DEFORMITIES IN PATIENTS WITH DELETIONS OF 22Q11, American journal of medical genetics, 72(2), 1997, pp. 210-215
CLINICAL EFFECTS OF CHOLESTEROL SUPPLEMENTATION IN 6 PATIENTS WITH THE SMITH-LEMLI-OPITZ-SYNDROME (SLOS)
Authors: ELIAS ER IRONS MB HURLEY AD TINT GS SALEN G
Citation: Er. Elias et al., CLINICAL EFFECTS OF CHOLESTEROL SUPPLEMENTATION IN 6 PATIENTS WITH THE SMITH-LEMLI-OPITZ-SYNDROME (SLOS), American journal of medical genetics, 68(3), 1997, pp. 305-310
TREATMENT OF SMITH-LEMLI-OPITZ SYNDROME - RESULTS OF A MULTICENTER TRIAL
Authors: IRONS M ELIAS ER ABUELO D BULL MJ GREENE CL JOHNSON VP KEPPEN L SCHANEN C TINT GS SALEN G
Citation: M. Irons et al., TREATMENT OF SMITH-LEMLI-OPITZ SYNDROME - RESULTS OF A MULTICENTER TRIAL, American journal of medical genetics, 68(3), 1997, pp. 311-314
PRENATAL-DIAGNOSIS AND CHOLESTEROL SUPPLEMENTATION IN A PREGNANCY AFFECTED WITH SMITH-LEMLI-OPITZ-SYNDROME
Authors: SARNESO CA ROSENBAUM KN IRONS MB KNIGHT GJ ELIAS ER
Citation: Ca. Sarneso et al., PRENATAL-DIAGNOSIS AND CHOLESTEROL SUPPLEMENTATION IN A PREGNANCY AFFECTED WITH SMITH-LEMLI-OPITZ-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 927-927
EFFECT OF CHOLESTEROL DEFICIENCY ON ERYTHROCYTES AND NEUTROPHILS IN CHILDREN WITH SMITH-LEMLI-OPITZ-SYNDROME (SLOS)
Authors: ELIAS ER IRONS M WOLFE LC KLEMPNER M
Citation: Er. Elias et al., EFFECT OF CHOLESTEROL DEFICIENCY ON ERYTHROCYTES AND NEUTROPHILS IN CHILDREN WITH SMITH-LEMLI-OPITZ-SYNDROME (SLOS), American journal of human genetics, 61(4), 1997, pp. 1453-1453
TRISOMY 15 MOSAICISM AND UNIPARENTAL DISOMY (UPD) IN A LIVEBORN INFANT
Authors: MILUNSKY JM WYANDT HE HUANG XL KANG XZ ELIAS ER MILUNSKY A
Citation: Jm. Milunsky et al., TRISOMY 15 MOSAICISM AND UNIPARENTAL DISOMY (UPD) IN A LIVEBORN INFANT, American journal of medical genetics, 61(3), 1996, pp. 269-273
CORRELATION OF CLINICAL PHENOTYPE AND BIOCHEMICAL DEFECT IN SMITH-LEMLI-OPTIZ SYNDROME (SLOS)
Authors: IRONS M LIAO YT ELIAS ER TINT GS SALEN G
Citation: M. Irons et al., CORRELATION OF CLINICAL PHENOTYPE AND BIOCHEMICAL DEFECT IN SMITH-LEMLI-OPTIZ SYNDROME (SLOS), Pediatric research, 39(4), 1996, pp. 480-480
ABNORMAL CHOLESTEROL-BIOSYNTHESIS IN THE SMITH-LEMLI-OPITZ SYNDROME
Authors: SALEN G SHEFER S BATTA AK TINT GS XU G HONDA A IRONS M ELIAS ER
Citation: G. Salen et al., ABNORMAL CHOLESTEROL-BIOSYNTHESIS IN THE SMITH-LEMLI-OPITZ SYNDROME, Journal of lipid research, 37(6), 1996, pp. 1169-1180
ABNORMAL CHOLESTEROL-BIOSYNTHESIS IN THE SMITH-LEMLI-OPITZ SYNDROME
Authors: SALEN G TINT GS XU G BATTA AK IRONS M ELIAS ER
Citation: G. Salen et al., ABNORMAL CHOLESTEROL-BIOSYNTHESIS IN THE SMITH-LEMLI-OPITZ SYNDROME, The Italian Journal of Gastroenterology, 27(9), 1995, pp. 506-508
PHYSICAL FINDINGS IN 21Q22 DELETION SUGGEST CRITICAL REGION FOR 21Q- PHENOTYPE IN Q22
Authors: THEODOROPOULOS DS COWAN JM ELIAS ER COLE C
Citation: Ds. Theodoropoulos et al., PHYSICAL FINDINGS IN 21Q22 DELETION SUGGEST CRITICAL REGION FOR 21Q- PHENOTYPE IN Q22, American journal of medical genetics, 59(2), 1995, pp. 161-163
PHENOTYPE OF PATIENTS WITH PEROXISOMAL DISORDERS SUBDIVIDED INTO 16 COMPLEMENTATION GROUPS
Authors: MOSER AB RASMUSSEN M NAIDU S WATKINS PA MCGUINNESS M HAJRA AK CHEN G RAYMOND G LIU A GORDON D GARNAAS K WALTON DS SKJELDAL OH GUGGENHEIM MA JACKSON LG ELIAS ER MOSER HW
Citation: Ab. Moser et al., PHENOTYPE OF PATIENTS WITH PEROXISOMAL DISORDERS SUBDIVIDED INTO 16 COMPLEMENTATION GROUPS, The Journal of pediatrics, 127(1), 1995, pp. 13-22
CORRELATION OF SEVERITY AND OUTCOME WITH PLASMA STEROL LEVELS IN VARIANTS OF THE SMITH-LEMLI-OPITZ SYNDROME
Authors: TINT GS SALEN G BATTA AK SHEFER S IRONS M ELIAS ER ABUELO DN JOHNSON VP LAMBERT M LUTZ R SCHANEN C MORRIS CA HOGANSON G HUGHESBENZIE R
Citation: Gs. Tint et al., CORRELATION OF SEVERITY AND OUTCOME WITH PLASMA STEROL LEVELS IN VARIANTS OF THE SMITH-LEMLI-OPITZ SYNDROME, The Journal of pediatrics, 127(1), 1995, pp. 82-87
MARKEDLY INHIBITED 7-DEHYDROCHOLESTEROL-DELTA(7)-REDUCTASE ACTIVITY IN LIVER-MICROSOMES FROM SMITH-LEMLI-OPITZ HOMOZYGOTES
Authors: SHEFER S SALEN G BATTA AK HONDA A TINT GS IRONS M ELIAS ER CHEN TC HOLICK MF
Citation: S. Shefer et al., MARKEDLY INHIBITED 7-DEHYDROCHOLESTEROL-DELTA(7)-REDUCTASE ACTIVITY IN LIVER-MICROSOMES FROM SMITH-LEMLI-OPITZ HOMOZYGOTES, The Journal of clinical investigation, 96(4), 1995, pp. 1779-1785
TREATMENT OF SMITH-LEMLI-OPITZ SYNDROME (SLOS) - RESULTS OF A MULTICENTER TRIAL
Authors: IRONS M ELIAS ER ABUELO D BULL MJ GREENE CL JOHNSON VP KEPPEN L SCHANEN C TINT GS SALEN G
Citation: M. Irons et al., TREATMENT OF SMITH-LEMLI-OPITZ SYNDROME (SLOS) - RESULTS OF A MULTICENTER TRIAL, American journal of human genetics, 57(4), 1995, pp. 87-87
TRISOMY-12 MOSAICISM IN 3 TISSUES IN A LIVE BORN INFANT
Authors: COWAN JM ELIAS ER
Citation: Jm. Cowan et Er. Elias, TRISOMY-12 MOSAICISM IN 3 TISSUES IN A LIVE BORN INFANT, American journal of human genetics, 57(4), 1995, pp. 468-468
NEUROPSYCHOLOGICAL AND BEHAVIORAL-EFFECTS OR CHOLESTEROL THERAPY IN CHILDREN WITH THE SMITH-LEMLI-OPITZ (SLO) SYNDROME
Authors: ELIAS ER IRONS M HURLEY A ABUELO D TINT GS SALEN G
Citation: Er. Elias et al., NEUROPSYCHOLOGICAL AND BEHAVIORAL-EFFECTS OR CHOLESTEROL THERAPY IN CHILDREN WITH THE SMITH-LEMLI-OPITZ (SLO) SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1019-1019
ABNORMAL SERUM TRIPLE SCREEN AND CRI-DU-CHAT SYNDROME
Authors: BERLIN BM SHEPHARD BA ELIAS ER LAZAR EC BIANCHI DW
Citation: Bm. Berlin et al., ABNORMAL SERUM TRIPLE SCREEN AND CRI-DU-CHAT SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1990-1990
ABNORMAL CHOLESTEROL-METABOLISM IN THE SMITH-LEMLI-OPITZ SYNDROME - REPORT OF CLINICAL AND BIOCHEMICAL FINDINGS IN 4 PATIENTS AND TREATMENTIN ONE PATIENT
Authors: IRONS M ELIAS ER TINT GS SALEN G FRIEDEN R BUIE TM AMPOLA M
Citation: M. Irons et al., ABNORMAL CHOLESTEROL-METABOLISM IN THE SMITH-LEMLI-OPITZ SYNDROME - REPORT OF CLINICAL AND BIOCHEMICAL FINDINGS IN 4 PATIENTS AND TREATMENTIN ONE PATIENT, American journal of medical genetics, 50(4), 1994, pp. 347-352
PRECOCIOUS PUBERTY IN GIRLS WITH MYELODYSPLASIA
Authors: ELIAS ER SADEGHINEJAD A
Citation: Er. Elias et A. Sadeghinejad, PRECOCIOUS PUBERTY IN GIRLS WITH MYELODYSPLASIA, Pediatrics, 93(3), 1994, pp. 521-522
DEFECTIVE CHOLESTEROL-BIOSYNTHESIS ASSOCIATED WITH THE SMITH-LEMLI-OPITZ SYNDROME
Authors: TINT GS IRONS M ELIAS ER BATTA AK FRIEDEN R CHEN TS SALEN G
Citation: Gs. Tint et al., DEFECTIVE CHOLESTEROL-BIOSYNTHESIS ASSOCIATED WITH THE SMITH-LEMLI-OPITZ SYNDROME, The New England journal of medicine, 330(2), 1994, pp. 107-113
FAILURE OF A CHILD WITH THE SMITH-LEMLI-OPITZ SYNDROME (SLO) TO SYNTHESIZE BILE-ACIDS - EFFECT OF CHOLESTEROL (CH) AND BILE-ACID (BA) FEEDING
Authors: TINT GS BATTA AK SALEN G ELIAS ER IRONS M FRIEDEN R
Citation: Gs. Tint et al., FAILURE OF A CHILD WITH THE SMITH-LEMLI-OPITZ SYNDROME (SLO) TO SYNTHESIZE BILE-ACIDS - EFFECT OF CHOLESTEROL (CH) AND BILE-ACID (BA) FEEDING, Hepatology, 18(4), 1993, pp. 10000179-10000179
Risultati: 1-25 | 26-27