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Results: 1-19 |
Results: 19
RECURRENT DIGITAL FIBROMA, FOCAL DERMAL HYPOPLASIA, AND LIMB MALFORMATIONS - A NEW SYNDROME
Authors: BREUNING M ORANJE AP HOVIUS SER DIEPSTRATEN AFM SIMONSZ HJ TORIELLO HV
Citation: M. Breuning et al., RECURRENT DIGITAL FIBROMA, FOCAL DERMAL HYPOPLASIA, AND LIMB MALFORMATIONS - A NEW SYNDROME, European journal of human genetics, 6, 1998, pp. 103-103
GIANT-CELL REPARATIVE GRANULOMA AND NON-OSSIFYING FIBROMA AS ADDITIONAL MANIFESTATIONS OF THE OCULO-ECTODERMAL SYNDROME (MIM-600268)
Authors: TORIELLO HV PANEK RW FREYER D
Citation: Hv. Toriello et al., GIANT-CELL REPARATIVE GRANULOMA AND NON-OSSIFYING FIBROMA AS ADDITIONAL MANIFESTATIONS OF THE OCULO-ECTODERMAL SYNDROME (MIM-600268), European journal of human genetics, 6, 1998, pp. 1060-1060
CHONDRODYSPLASIA PUNCTATA AND MATERNAL SYSTEMIC LUPUS-ERYTHEMATOSUS
Authors: TORIELLO HV
Citation: Hv. Toriello, CHONDRODYSPLASIA PUNCTATA AND MATERNAL SYSTEMIC LUPUS-ERYTHEMATOSUS, Journal of Medical Genetics, 35(8), 1998, pp. 698-699
ACRO-OTO-OCULAR SYNDROME - FURTHER EVIDENCE FOR A NEW AUTOSOMAL RECESSIVE DISORDER
Authors: BERTOLA DR WOLF LM TORIELLO HV NETZLOFF ML
Citation: Dr. Bertola et al., ACRO-OTO-OCULAR SYNDROME - FURTHER EVIDENCE FOR A NEW AUTOSOMAL RECESSIVE DISORDER, American journal of medical genetics, 73(4), 1997, pp. 442-446
VITAMIN-K DEFICIENCY EMBRYOPATHY - A PHENOCOPY OF THE WARFARIN EMBRYOPATHY DUE TO A DISORDER OF EMBRYONIC VITAMIN-K METABOLISM
Authors: MENGER H LIN AE TORIELLO HV BERNERT G SPRANGER JW
Citation: H. Menger et al., VITAMIN-K DEFICIENCY EMBRYOPATHY - A PHENOCOPY OF THE WARFARIN EMBRYOPATHY DUE TO A DISORDER OF EMBRYONIC VITAMIN-K METABOLISM, American journal of medical genetics, 72(2), 1997, pp. 129-134
MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA - A DISTINCT DISORDER WITH DEVELOPMENTAL DELAY AND CONNECTIVE-TISSUE ABNORMALITIES
Authors: MOORE CA TORIELLO HV ABUELO DN BULL MJ CURRY CJR HALL BD HIGGINS JV STEVENS CA TWERSKY S WEKSBERG R DOBYNS WB
Citation: Ca. Moore et al., MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA - A DISTINCT DISORDER WITH DEVELOPMENTAL DELAY AND CONNECTIVE-TISSUE ABNORMALITIES, American journal of medical genetics, 70(1), 1997, pp. 67-73
6 PATIENTS WITH ORAL-FACIAL-DIGITAL SYNDROME-IV - THE CASE FOR HETEROGENEITY
Authors: TORIELLO HV CAREY JC SUSLAK E DESPOSITO FR LEONARD B LIPSON M FRIEDMAN BD HOYME HE
Citation: Hv. Toriello et al., 6 PATIENTS WITH ORAL-FACIAL-DIGITAL SYNDROME-IV - THE CASE FOR HETEROGENEITY, American journal of medical genetics, 69(3), 1997, pp. 250-260
CLINICAL PHENOTYPE OF A PATIENT WITH A NOVEL INTERSTITIAL DELETION OFCHROMOSOME-2
Authors: STORTO PD BICE G WOLF LM NETZLOFF ML TORIELLO HV MONCRIEF DT
Citation: Pd. Storto et al., CLINICAL PHENOTYPE OF A PATIENT WITH A NOVEL INTERSTITIAL DELETION OFCHROMOSOME-2, American journal of human genetics, 61(4), 1997, pp. 804-804
A TRANSLOCATION INTERRUPTS THE COL5A1 GENE IN A PATIENT WITH EHLERS-DANLOS SYNDROME AND HYPOMELANOSIS OF ITO
Authors: TORIELLO HV GLOVER TW TAKAHARA K BYERS PH MILLER DE HIGGINS JV GREENSPAN DS
Citation: Hv. Toriello et al., A TRANSLOCATION INTERRUPTS THE COL5A1 GENE IN A PATIENT WITH EHLERS-DANLOS SYNDROME AND HYPOMELANOSIS OF ITO, Nature genetics, 13(3), 1996, pp. 361-365
PRENATAL FINDINGS IN CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE
Authors: ARGO KM TORIELLO HV JELSEMA RD ZUIDEMA LJ
Citation: Km. Argo et al., PRENATAL FINDINGS IN CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE, Ultrasound in obstetrics & gynecology, 8(5), 1996, pp. 350-354
CONGENITAL PULMONARY LYMPHANGIECTASIA AND OTHER ANOMALIES IN A CHILD - PROVISIONALLY UNIQUE SYNDROME
Authors: GILEWSKI MK STATLER CC KOHUT G TORIELLO HV
Citation: Mk. Gilewski et al., CONGENITAL PULMONARY LYMPHANGIECTASIA AND OTHER ANOMALIES IN A CHILD - PROVISIONALLY UNIQUE SYNDROME, American journal of medical genetics, 66(4), 1996, pp. 438-440
IS THERE A BALLER-GEROLD SYNDROME
Authors: COHEN MM TORIELLO HV
Citation: Mm. Cohen et Hv. Toriello, IS THERE A BALLER-GEROLD SYNDROME, American journal of medical genetics, 61(1), 1996, pp. 63-64
CRANIODIGITAL SYNDROMES - REPORT OF A CHILD WITH FILIPPI SYNDROME ANDDISCUSSION OF DIFFERENTIAL-DIAGNOSIS
Authors: TORIELLO HV HIGGINS JV
Citation: Hv. Toriello et Jv. Higgins, CRANIODIGITAL SYNDROMES - REPORT OF A CHILD WITH FILIPPI SYNDROME ANDDISCUSSION OF DIFFERENTIAL-DIAGNOSIS, American journal of medical genetics, 55(2), 1995, pp. 200-204
ANALYSIS OF THE 22Q11 DELETION IN CASES REFERRED FOR VELOCARDIOFACIALSYNDROME, DIGEORGE SEQUENCE, OR TETRALOGY OF FALLOT
Authors: HIGGINS JV TORIELLO HV MEILENGER K
Citation: Jv. Higgins et al., ANALYSIS OF THE 22Q11 DELETION IN CASES REFERRED FOR VELOCARDIOFACIALSYNDROME, DIGEORGE SEQUENCE, OR TETRALOGY OF FALLOT, American journal of human genetics, 57(4), 1995, pp. 645-645
MATERNAL SERUM HCG ELEVATIONS AND ADVERSE PREGNANCY OUTCOMES
Authors: LEWIS KE TORIELLO HV MARSIGLIA S
Citation: Ke. Lewis et al., MATERNAL SERUM HCG ELEVATIONS AND ADVERSE PREGNANCY OUTCOMES, American journal of human genetics, 57(4), 1995, pp. 1646-1646
ALVEOLAR SYNECHIA-ANKYLOBLEPHARON-ECTODERMAL DEFECTS LIKELY CHANDS
Authors: TORIELLO HV
Citation: Hv. Toriello, ALVEOLAR SYNECHIA-ANKYLOBLEPHARON-ECTODERMAL DEFECTS LIKELY CHANDS, American journal of medical genetics, 49(3), 1994, pp. 348-348
GENETIC NORMALIZATION IN DUCHENNE CARRIERS
Authors: PEGORARO E SCHIMKE RN ARAHATA K HIYASHI Y STERN H MARKS H GLASBERG MR CARROLL JE TABER JW WESSEL HB BAUSERMAN SC TORIELLO HV APPLETON S SCHWARTZ LS GARCIA CA HOFFMAN EP
Citation: E. Pegoraro et al., GENETIC NORMALIZATION IN DUCHENNE CARRIERS, Neurology, 44(4), 1994, pp. 10000187-10000188
DETECTION OF NEW PATERNAL DYSTROPHIN GENE-MUTATIONS IN ISOLATED CASESOF DYSTROPHINOPATHY IN FEMALES
Authors: PEGORARO E SCHIMKE RN ARAHATA K HAYASHI Y STERN H MARKS H GLASBERG MR CARROLL JE TABER JW WESSEL HB BAUSERMAN SC MARKS WA TORIELLO HV HIGGINS JV APPLETON S SCHWARTZ L GARCIA CA HOFFMAN EP
Citation: E. Pegoraro et al., DETECTION OF NEW PATERNAL DYSTROPHIN GENE-MUTATIONS IN ISOLATED CASESOF DYSTROPHINOPATHY IN FEMALES, American journal of human genetics, 54(6), 1994, pp. 989-1003
PROVISIONALLY UNIQUE AUTOSOMAL RECESSIVE CHONDRODYSPLASIA PUNCTATA SYNDROME
Authors: TORIELLO HV HIGGINS JV MILLER T
Citation: Hv. Toriello et al., PROVISIONALLY UNIQUE AUTOSOMAL RECESSIVE CHONDRODYSPLASIA PUNCTATA SYNDROME, American journal of medical genetics, 47(5), 1993, pp. 797-799
Risultati: 1-19 |