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Results: 1-25 | 26-50 | 51-54
Results: 1-25/54
NEUROLOGICAL ASPECTS OF THE SMITH-MAGENIS-SYNDROME
Authors: GROPMAN A SMITH ACM GREENBERG F
Citation: A. Gropman et al., NEUROLOGICAL ASPECTS OF THE SMITH-MAGENIS-SYNDROME, Annals of neurology, 44(3), 1998, pp. 28-28
BEHAVIORAL-PHENOTYPE OF SMITH-MAGENIS-SYNDROME (DEL 17P11.2)
Authors: SMITH ACM DYKENS E GREENBERG F
Citation: Acm. Smith et al., BEHAVIORAL-PHENOTYPE OF SMITH-MAGENIS-SYNDROME (DEL 17P11.2), American journal of medical genetics, 81(2), 1998, pp. 179-185
SLEEP DISTURBANCE IN SMITH-MAGENIS-SYNDROME (DEL-17-P11.2)
Authors: SMITH ACM DYKENS E GREENBERG F
Citation: Acm. Smith et al., SLEEP DISTURBANCE IN SMITH-MAGENIS-SYNDROME (DEL-17-P11.2), American journal of medical genetics, 81(2), 1998, pp. 186-191
DELINEATION OF THE COMMON CRITICAL REGION IN WILLIAMS-SYNDROME AND CLINICAL CORRELATION OF GROWTH, HEART-DEFECTS, ETHNICITY, AND PARENTAL ORIGIN
Authors: WU YQ SUTTON VR NICKERSON E LUPSKI JR POTOCKI L KORENBERG JR GREENBERG F TASSABEHJI M SHAFFER LG
Citation: Yq. Wu et al., DELINEATION OF THE COMMON CRITICAL REGION IN WILLIAMS-SYNDROME AND CLINICAL CORRELATION OF GROWTH, HEART-DEFECTS, ETHNICITY, AND PARENTAL ORIGIN, American journal of medical genetics, 78(1), 1998, pp. 82-89
THE POINTER SYNDROME - A NEW SYNDROME WITH SKELETAL ABNORMALITIES, CAMPTODACTYLY, FACIAL ANOMALIES, AND FEEDING DIFFICULTIES
Authors: HUQ AHMM BRAVERMAN RM GREENBERG F BACINO CA RIMOIN DL LACHMAN RS LEVIN ML
Citation: Ahmm. Huq et al., THE POINTER SYNDROME - A NEW SYNDROME WITH SKELETAL ABNORMALITIES, CAMPTODACTYLY, FACIAL ANOMALIES, AND FEEDING DIFFICULTIES, American journal of medical genetics, 68(2), 1997, pp. 225-230
WILLIAMS-SYNDROME AND THE BRAIN
Authors: LENHOFF HM WANG PP GREENBERG F BELLUGI U
Citation: Hm. Lenhoff et al., WILLIAMS-SYNDROME AND THE BRAIN, Scientific American, 277(6), 1997, pp. 68-73
ORAL-MOTOR AND OTOLARYNGOLOGIC FINDINGS IN 14 PATIENTS WITH SMITH-MAGENIS-SYNDROME (17P11.2) - RESULTS OF AN INTERDISCIPLINARY STUDY
Authors: SONIES BC SOLOMON B ONDREY F MCCULLAGH L GREENBERG F SMITH ACM
Citation: Bc. Sonies et al., ORAL-MOTOR AND OTOLARYNGOLOGIC FINDINGS IN 14 PATIENTS WITH SMITH-MAGENIS-SYNDROME (17P11.2) - RESULTS OF AN INTERDISCIPLINARY STUDY, American journal of human genetics, 61(4), 1997, pp. 13-13
THE DYSMORPHOLOGY AND GENETICS OF JOB HYPER IGE SYNDROME
Authors: GREENBERG F GRIMBACHER B GALLIN J MALECH H PUCK J HOLLAND S
Citation: F. Greenberg et al., THE DYSMORPHOLOGY AND GENETICS OF JOB HYPER IGE SYNDROME, American journal of human genetics, 61(4), 1997, pp. 20-20
SLEEP DISTURBANCE AMONG 39 PATIENTS WITH SMITH-MAGENIS-SYNDROME (DEL 17P11.2)
Authors: SMITH ACM DYKENS E GREENBERG F
Citation: Acm. Smith et al., SLEEP DISTURBANCE AMONG 39 PATIENTS WITH SMITH-MAGENIS-SYNDROME (DEL 17P11.2), American journal of human genetics, 61(4), 1997, pp. 639-639
CHROMOSOME 1P36 DELETIONS - THE CLINICAL PHENOTYPE AND MOLECULAR CHARACTERIZATION OF A COMMON NEWLY DELINEATED SYNDROME
Authors: SHAPRIA SK MCCASKILL C NORTHRUP H SPIKES AS ELDER FFB SUTTON VR KORENBERG JR GREENBERG F SHAFFER LG
Citation: Sk. Shapria et al., CHROMOSOME 1P36 DELETIONS - THE CLINICAL PHENOTYPE AND MOLECULAR CHARACTERIZATION OF A COMMON NEWLY DELINEATED SYNDROME, American journal of human genetics, 61(3), 1997, pp. 642-650
TESTING FOR WILLIAMS-SYNDROME USING FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: FLOM K JALEL S GREENBERG F MORRIS C
Citation: K. Flom et al., TESTING FOR WILLIAMS-SYNDROME USING FLUORESCENCE IN-SITU HYBRIDIZATION, Journal of clinical ligand assay, 19(1), 1996, pp. 86-86
QUANTIFICATION BY FLOW-CYTOMETRY OF CHROMOSOME-17 DELETIONS IN SMITH-MAGENIS SYNDROME PATIENTS
Authors: TRASK BJ MEFFORD H VANDENENGH G MASSA HF JUYAL RC POTOCKI L FINUCANE B ABUELO DN WITT DR MAGENIS E BALDINI A GREENBERG F LUPSKI JR PATEL PI
Citation: Bj. Trask et al., QUANTIFICATION BY FLOW-CYTOMETRY OF CHROMOSOME-17 DELETIONS IN SMITH-MAGENIS SYNDROME PATIENTS, Human genetics, 98(6), 1996, pp. 710-718
DUPLICATION OF THE PMP22 GENE IN 17P PARTIAL TRISOMY PATIENTS WITH CHARCOT-MARIE-TOOTH TYPE-1A NEUROPATHY
Authors: ROA BB GREENBERG F GUNARATNE P SAUER CM LUBINSKY MS KOZMA C MECK JM MAGENIS RE SHAFFER LG LUPSKI JR
Citation: Bb. Roa et al., DUPLICATION OF THE PMP22 GENE IN 17P PARTIAL TRISOMY PATIENTS WITH CHARCOT-MARIE-TOOTH TYPE-1A NEUROPATHY, Human genetics, 97(5), 1996, pp. 642-649
A CLINICAL AND MOLECULAR STUDY OF MOSAICISM FOR TRISOMY-17
Authors: SHAFFER LG MCCASKILL C HERSH JH GREENBERG F LUPSKI JR
Citation: Lg. Shaffer et al., A CLINICAL AND MOLECULAR STUDY OF MOSAICISM FOR TRISOMY-17, Human genetics, 97(1), 1996, pp. 69-72
OPHTHALMIC MANIFESTATIONS OF SMITH-MAGENIS SYNDROME
Authors: CHEN RM LUPSKI JR GREENBERG F LEWIS RA
Citation: Rm. Chen et al., OPHTHALMIC MANIFESTATIONS OF SMITH-MAGENIS SYNDROME, Ophthalmology, 103(7), 1996, pp. 1084-1091
MULTIDISCIPLINARY APPROACH TO THE PATIENT WITH PRADER-WILLI-SYNDROME
Authors: HENSON HH GREENBERG F PIVARNIK J KLISH WJ LEE PDK
Citation: Hh. Henson et al., MULTIDISCIPLINARY APPROACH TO THE PATIENT WITH PRADER-WILLI-SYNDROME, American journal of medical genetics, 62(3), 1996, pp. 17-17
MULTIDISCIPLINARY CLINICAL-STUDY OF SMITH-MAGENIS SYNDROME (DELETION-17P11.2)
Authors: GREENBERG F LEWIS RA POTOCKI L GLAZE D PARKE J KILLIAN J MURPHY MA WILLIAMSON D BROWN F DUTTON R MCCLUGGAGE C FRIEDMAN E SULEK M LUPSKI JR
Citation: F. Greenberg et al., MULTIDISCIPLINARY CLINICAL-STUDY OF SMITH-MAGENIS SYNDROME (DELETION-17P11.2), American journal of medical genetics, 62(3), 1996, pp. 247-254
X-LINKED LETHAL INFANTILE SPINAL MUSCULAR-ATROPHY - FROM CLINICAL DESCRIPTION TO MOLECULAR MAPPING
Authors: BAUMBACH LL KOBYASHI H IANNACONNE S BEST B MARTIN R GREENBERG F HOFFMAN EP
Citation: Ll. Baumbach et al., X-LINKED LETHAL INFANTILE SPINAL MUSCULAR-ATROPHY - FROM CLINICAL DESCRIPTION TO MOLECULAR MAPPING, Neurology, 46(2), 1996, pp. 5023-5023
MOLECULAR ANALYSES OF 17P11.2 DELETIONS IN 62 SMITH-MAGENIS SYNDROME PATIENTS
Authors: JUYAL RC FIGUERA LE HAUGE X ELSEA SH LUPSKI JR GREENBERG F BALDINI A PATEL PI
Citation: Rc. Juyal et al., MOLECULAR ANALYSES OF 17P11.2 DELETIONS IN 62 SMITH-MAGENIS SYNDROME PATIENTS, American journal of human genetics, 58(5), 1996, pp. 998-1007
HISPANIC ORIGIN AND NEURAL-TUBE DEFECTS IN HOUSTON HARRIS-COUNTY, TEXAS .1. DESCRIPTIVE EPIDEMIOLOGY
Authors: CANFIELD MA ANNEGERS JF BRENDER JD COOPER SP GREENBERG F
Citation: Ma. Canfield et al., HISPANIC ORIGIN AND NEURAL-TUBE DEFECTS IN HOUSTON HARRIS-COUNTY, TEXAS .1. DESCRIPTIVE EPIDEMIOLOGY, American journal of epidemiology, 143(1), 1996, pp. 1-11
HISPANIC ORIGIN AND NEURAL-TUBE DEFECTS IN HOUSTON HARRIS-COUNTY, TEXAS .2. RISK-FACTORS
Authors: CANFIELD MA ANNEGERS JF BRENDER JD COOPER SP GREENBERG F
Citation: Ma. Canfield et al., HISPANIC ORIGIN AND NEURAL-TUBE DEFECTS IN HOUSTON HARRIS-COUNTY, TEXAS .2. RISK-FACTORS, American journal of epidemiology, 143(1), 1996, pp. 12-24
A GENE FOR A SEVERE LETHAL FORM OF X-LINKED ARTHROGRYPOSIS (X-LINKED INFANTILE SPINAL MUSCULAR-ATROPHY) MAPS TO HUMAN-CHROMOSOME XP11.3-Q11.2
Authors: KOBAYASHI H BAUMBACH L MATISE TC SCHIAVI A GREENBERG F HOFFMAN EP
Citation: H. Kobayashi et al., A GENE FOR A SEVERE LETHAL FORM OF X-LINKED ARTHROGRYPOSIS (X-LINKED INFANTILE SPINAL MUSCULAR-ATROPHY) MAPS TO HUMAN-CHROMOSOME XP11.3-Q11.2, Human molecular genetics, 4(7), 1995, pp. 1213-1216
THE GENE FOR A HUMAN MICROFIBRIL-ASSOCIATED GLYCOPROTEIN IS COMMONLY DELETED IN SMITH-MAGENIS SYNDROME PATIENTS
Authors: ZHAO ZY LEE CC JIRALERSPONG S JUYAL RC LU F BALDINI A GREENBERG F CASKEY CT PATEL PI
Citation: Zy. Zhao et al., THE GENE FOR A HUMAN MICROFIBRIL-ASSOCIATED GLYCOPROTEIN IS COMMONLY DELETED IN SMITH-MAGENIS SYNDROME PATIENTS, Human molecular genetics, 4(4), 1995, pp. 589-597
APPARENT MOSAICISM FOR DEL(17)(P11.2) RULED OUT BY FLUORESCENCE IN-SITU HYBRIDIZATION IN A SMITH-MAGENIS SYNDROME PATIENT
Authors: JUYAL RC FINUCANE B SHAFFER LG LUPSKI JR GREENBERG F SCOTT CI BALDINI A PATEL PI
Citation: Rc. Juyal et al., APPARENT MOSAICISM FOR DEL(17)(P11.2) RULED OUT BY FLUORESCENCE IN-SITU HYBRIDIZATION IN A SMITH-MAGENIS SYNDROME PATIENT, American journal of medical genetics, 59(3), 1995, pp. 406-407
SMITH-MAGENIS SYNDROME DELETION - A CASE WITH EQUIVOCAL CYTOGENETIC FINDINGS RESOLVED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: JUYAL RC GREENBERG F MENGDEN GA LUPSKI JR TRASK BJ VANDENENGH G LINDSAY EA CHRISTY H CHEN KS BALDINI A SHAFFER LG PATEL PI
Citation: Rc. Juyal et al., SMITH-MAGENIS SYNDROME DELETION - A CASE WITH EQUIVOCAL CYTOGENETIC FINDINGS RESOLVED BY FLUORESCENCE IN-SITU HYBRIDIZATION, American journal of medical genetics, 58(3), 1995, pp. 286-291
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