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Results: 1-16 |
Results: 16
DUPLICATION 6Q22-]QTER - DEFINITION OF THE PHENOTYPE
Authors: CONRAD BA HIGGINS RR PIERPONT MEM
Citation: Ba. Conrad et al., DUPLICATION 6Q22-]QTER - DEFINITION OF THE PHENOTYPE, American journal of medical genetics, 78(2), 1998, pp. 123-126
RETINOBLASTOMA AND HIRSCHSPRUNG-DISEASE IN A PATIENT WITH INTERSTITIAL DELETION OF CHROMOSOME-13
Authors: WEIGEL BJ PIERPONT MEM YOUNG TL MUTCHLER SB NEGLIA JP
Citation: Bj. Weigel et al., RETINOBLASTOMA AND HIRSCHSPRUNG-DISEASE IN A PATIENT WITH INTERSTITIAL DELETION OF CHROMOSOME-13, American journal of medical genetics, 77(4), 1998, pp. 285-288
PLANTAR LIPOMATOSIS, UNUSUAL FACIAL PHENOTYPE AND DEVELOPMENTAL DELAY- A NEW MCA MR SYNDROME/
Authors: PIERPONT MEM STEWART FJ GORLIN RJ
Citation: Mem. Pierpont et al., PLANTAR LIPOMATOSIS, UNUSUAL FACIAL PHENOTYPE AND DEVELOPMENTAL DELAY- A NEW MCA MR SYNDROME/, American journal of medical genetics, 75(1), 1998, pp. 18-21
ALAGILLE-SYNDROME IS CAUSED BY MUTATIONS IN HUMAN JAGGED1, WHICH ENCODES A LIGAND FOR NOTCH1
Authors: LI LH KRANTZ ID DENG Y GENIN A BANTA AB COLLINS CC QI M TRASK BJ KUO WL COCHRAN J COSTA T PIERPONT MEM RAND EB PICCOLI DA HOOD L SPINNER NB
Citation: Lh. Li et al., ALAGILLE-SYNDROME IS CAUSED BY MUTATIONS IN HUMAN JAGGED1, WHICH ENCODES A LIGAND FOR NOTCH1, Nature genetics, 16(3), 1997, pp. 243-251
MICROCEPHALY WITH AGENESIS OF CORTICOSPINAL TRACTS AND ARTHROGRYPOSIS, HYPOSPADIAS, SINGLE UMBILICAL ARTERY, HYPERTELORISM, AND RENAL AND ADRENAL HYPOPLASIA - PREVIOUSLY UNDESCRIBED SYNDROME
Authors: COAD JE ANGEL C PIERPONT MEM GORLIN RJ ANDERSON ML
Citation: Je. Coad et al., MICROCEPHALY WITH AGENESIS OF CORTICOSPINAL TRACTS AND ARTHROGRYPOSIS, HYPOSPADIAS, SINGLE UMBILICAL ARTERY, HYPERTELORISM, AND RENAL AND ADRENAL HYPOPLASIA - PREVIOUSLY UNDESCRIBED SYNDROME, American journal of medical genetics, 71(4), 1997, pp. 458-462
BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA WITH MENTAL-RETARDATIONAND SYNDACTYLY IN BOYS - A NEW X-LINKED MENTAL-RETARDATION SYNDROME
Authors: DOBYNS WB GUERRINI R CZAPANSKYBEILMAN DK PIERPONT MEM BRENINGSTALL G YOCK DH BONANNI P TRUWIT CL
Citation: Wb. Dobyns et al., BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA WITH MENTAL-RETARDATIONAND SYNDACTYLY IN BOYS - A NEW X-LINKED MENTAL-RETARDATION SYNDROME, Neurology, 49(4), 1997, pp. 1042-1047
MUTATION OF THE GENE IN A FAMILY WITH OPTIC-NERVE COLOBOMAS, RENAL ANOMOLIES AND VESICOURETERAL REFLUX (VOL 9, PG 358, 1995)
Authors: SANYANUSIN P SCHIMMENTI LA MCNOE LA WARD TA PIERPONT MEM SULLIVAN MJ DOBYNS WB ECCLES MR
Citation: P. Sanyanusin et al., MUTATION OF THE GENE IN A FAMILY WITH OPTIC-NERVE COLOBOMAS, RENAL ANOMOLIES AND VESICOURETERAL REFLUX (VOL 9, PG 358, 1995), Nature genetics, 13(1), 1996, pp. 129-129
GENETIC ETIOLOGY OF CARDIAC SYNDROMES
Authors: PIERPONT MEM
Citation: Mem. Pierpont, GENETIC ETIOLOGY OF CARDIAC SYNDROMES, Progress in pediatric cardiology, 6(1), 1996, pp. 29-41
OCCURRENCE OF CARDIAC-MALFORMATIONS IN RELATIVES OF CHILDREN WITH TRANSPOSITION OF THE GREAT-ARTERIES
Authors: BECKER TA VANAMBER R MOLLER JH PIERPONT MEM
Citation: Ta. Becker et al., OCCURRENCE OF CARDIAC-MALFORMATIONS IN RELATIVES OF CHILDREN WITH TRANSPOSITION OF THE GREAT-ARTERIES, American journal of medical genetics, 66(1), 1996, pp. 28-32
VARIATION IN SEVERITY OF CARDIAC DISEASE IN HOLT-ORAM SYNDROME
Authors: SLETTEN LJ PIERPONT MEM
Citation: Lj. Sletten et Mem. Pierpont, VARIATION IN SEVERITY OF CARDIAC DISEASE IN HOLT-ORAM SYNDROME, American journal of medical genetics, 65(2), 1996, pp. 128-132
MITOCHONDRIAL-FUNCTION IN CHILDREN WITH IDIOPATHIC DILATED CARDIOMYOPATHY
Authors: MARINGARCIA J GOLDENTHAL MJ ANANTHAKRISHNAN R PIERPONT MEM FRICKER FJ LIPSHULTZ SE PEREZATAYDE A
Citation: J. Maringarcia et al., MITOCHONDRIAL-FUNCTION IN CHILDREN WITH IDIOPATHIC DILATED CARDIOMYOPATHY, Journal of inherited metabolic disease, 19(3), 1996, pp. 309-312
SPECIFIC MITOCHONDRIAL-DNA DELETIONS IN IDIOPATHIC DILATED CARDIOMYOPATHY
Authors: MARINGARCIA J GOLDENTHAL MJ ANANTHAKRISHNAN R PIERPONT MEM FRICKER FJ LIPSHULTZ SE PEREZATAYDE A
Citation: J. Maringarcia et al., SPECIFIC MITOCHONDRIAL-DNA DELETIONS IN IDIOPATHIC DILATED CARDIOMYOPATHY, Cardiovascular Research, 31(2), 1996, pp. 306-313
MUTATION OF THE PAX2 GENE IN A FAMILY WITH OPTIC-NERVE COLOBOMAS, RENAL ANOMALIES AND VESICOURETERAL REFLUX
Authors: SANYANUSIN P SCHIMMENTI LA MCNOE LA WARD TA PIERPONT MEM SULLIVAN MJ DOBYNS WB ECCLES MR
Citation: P. Sanyanusin et al., MUTATION OF THE PAX2 GENE IN A FAMILY WITH OPTIC-NERVE COLOBOMAS, RENAL ANOMALIES AND VESICOURETERAL REFLUX, Nature genetics, 9(4), 1995, pp. 358-364
FAMILIAL OCCURRENCE OF PATENT DUCTUS-ARTERIOSUS
Authors: SLETTEN LJ PIERPONT MEM
Citation: Lj. Sletten et Mem. Pierpont, FAMILIAL OCCURRENCE OF PATENT DUCTUS-ARTERIOSUS, American journal of medical genetics, 57(1), 1995, pp. 27-30
BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA, CEREBELLAR HYPOPLASIA,MENTAL-RETARDATION AND SYNDACTYLY - A MALFORMATION SYNDROME MAPPING TO CHROMOSOME XQ28
Authors: CZAPANSKYBEILMAN DK HIRSCH B PIERPONT MEM TRUWIT CL DOBYNS WB
Citation: Dk. Czapanskybeilman et al., BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA, CEREBELLAR HYPOPLASIA,MENTAL-RETARDATION AND SYNDACTYLY - A MALFORMATION SYNDROME MAPPING TO CHROMOSOME XQ28, American journal of human genetics, 57(4), 1995, pp. 472-472
MYOCARDIAL CARNITINE METABOLISM IN CONGESTIVE-HEART-FAILURE INDUCED BY INCESSANT TACHYCARDIA
Authors: PIERPONT MEM FOKER JE PIERPONT GL
Citation: Mem. Pierpont et al., MYOCARDIAL CARNITINE METABOLISM IN CONGESTIVE-HEART-FAILURE INDUCED BY INCESSANT TACHYCARDIA, Basic research in cardiology, 88(4), 1993, pp. 362-370
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