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Results: 1-17 |
Results: 17
MOST JACOBSEN-SYNDROME DELETION BREAKPOINTS OCCUR DISTAL TO FRA11B
Authors: MICHAELIS RC VELAGALETI GVN JONES C PIVNICK EK PHELAN MC BOYD E TARLETON J WILROY RS TUNNACLIFFE A THARAPEL AT
Citation: Rc. Michaelis et al., MOST JACOBSEN-SYNDROME DELETION BREAKPOINTS OCCUR DISTAL TO FRA11B, American journal of medical genetics, 76(3), 1998, pp. 222-228
INFANT WITH MIDLINE THORACOABDOMINAL SCHISIS AND LIMB DEFECTS
Authors: PIVNICK EK KAUFMAN RA VELAGALETI GVN GUNTHER WM ABRAMOVICI D
Citation: Ek. Pivnick et al., INFANT WITH MIDLINE THORACOABDOMINAL SCHISIS AND LIMB DEFECTS, Teratology, 58(5), 1998, pp. 205-208
BONY ORBITAL MORPHOLOGY IN NEUROFIBROMATOSIS TYPE-1 (NF1)
Authors: KASTE SC PIVNICK EK
Citation: Sc. Kaste et Ek. Pivnick, BONY ORBITAL MORPHOLOGY IN NEUROFIBROMATOSIS TYPE-1 (NF1), Journal of Medical Genetics, 35(8), 1998, pp. 628-631
SIMULTANEOUS ADRENOCORTICAL CARCINOMA AND GANGLIONEUROBLASTOMA IN A CHILD WITH TURNER-SYNDROME AND GERMLINE P53 MUTATION
Authors: PIVNICK EK FURMAN WL VELAGALETI GVN JENKINS JJ CHASE NA RIBEIRO RC
Citation: Ek. Pivnick et al., SIMULTANEOUS ADRENOCORTICAL CARCINOMA AND GANGLIONEUROBLASTOMA IN A CHILD WITH TURNER-SYNDROME AND GERMLINE P53 MUTATION, Journal of Medical Genetics, 35(4), 1998, pp. 328-332
NEUROFIBROMATOSIS TYPE-1 (NF1) - A PROTEIN TRUNCATION ASSAY YIELDING IDENTIFICATION OF MUTATIONS IN 73-PERCENT OF PATIENTS
Authors: PARK VM PIVNICK EK
Citation: Vm. Park et Ek. Pivnick, NEUROFIBROMATOSIS TYPE-1 (NF1) - A PROTEIN TRUNCATION ASSAY YIELDING IDENTIFICATION OF MUTATIONS IN 73-PERCENT OF PATIENTS, Journal of Medical Genetics, 35(10), 1998, pp. 813-820
MUTATION SCREENING IN NEUROFIBROMATOSIS TYPE-1 (NF1)
Authors: PARK VM STURTEVANT DB KENWRIGHT KA PIVNICK EK
Citation: Vm. Park et al., MUTATION SCREENING IN NEUROFIBROMATOSIS TYPE-1 (NF1), The American journal of pathology, 153(5), 1998, pp. 24-24
COMPLICATIONS OF THE NEVOID BASAL-CELL CARCINOMA SYNDROME - A CASE-REPORT
Authors: WALTER AW PIVNICK EK BALE AE KUN LE
Citation: Aw. Walter et al., COMPLICATIONS OF THE NEVOID BASAL-CELL CARCINOMA SYNDROME - A CASE-REPORT, Journal of pediatric hematology/oncology, 19(3), 1997, pp. 258-262
HAIR WHORL AS AN INDICATOR OF A MEDIASTINAL PLEXIFORM NEUROFIBROMA
Authors: PIVNICK EK LOBE TE FITCH SJ RICCARDI VM
Citation: Ek. Pivnick et al., HAIR WHORL AS AN INDICATOR OF A MEDIASTINAL PLEXIFORM NEUROFIBROMA, Pediatric dermatology, 14(3), 1997, pp. 196-198
BONY ORBITAL MORPHOLOGY IN NEUROFIBROMATOSIS TYPE-1 (NF-1)
Authors: KASTE SC PIVNICK EK
Citation: Sc. Kaste et Ek. Pivnick, BONY ORBITAL MORPHOLOGY IN NEUROFIBROMATOSIS TYPE-1 (NF-1), American journal of human genetics, 61(4), 1997, pp. 574-574
DELINEATION OF A COMMON FACIAL APPEARANCE IN NEUROFIBROMATOSIS TYPE-1(NF1)
Authors: PIVNICK EK SHAEFER GB LIN AE PARK VM TOLLEY EA LAWRENCE MD HUSON SM
Citation: Ek. Pivnick et al., DELINEATION OF A COMMON FACIAL APPEARANCE IN NEUROFIBROMATOSIS TYPE-1(NF1), American journal of human genetics, 61(4), 1997, pp. 616-616
NEUROFIBROMATOSIS TYPE-1 (NF1) GENE - ALTERNATIVE SPLICING OF EXON-29AND EXON-30 AND A NOVEL BRAIN-SPECIFIC TRANSCRIPT
Authors: PARK VM PIVNICK EK
Citation: Vm. Park et Ek. Pivnick, NEUROFIBROMATOSIS TYPE-1 (NF1) GENE - ALTERNATIVE SPLICING OF EXON-29AND EXON-30 AND A NOVEL BRAIN-SPECIFIC TRANSCRIPT, American journal of human genetics, 61(4), 1997, pp. 1034-1034
A JUMPING ROBERTSONIAN TRANSLOCATION - A MOLECULAR AND CYTOGENETIC STUDY
Authors: GROSS SJ THARAPEL AT PHILLIPS OP SHULMAN LP PIVNICK EK PARK VM
Citation: Sj. Gross et al., A JUMPING ROBERTSONIAN TRANSLOCATION - A MOLECULAR AND CYTOGENETIC STUDY, Human genetics, 98(3), 1996, pp. 291-296
HYPERTRICHOSIS, PIGMENTARY RETINOPATHY, AND FACIAL ANOMALIES - A NEW SYNDROME
Authors: PIVNICK EK WILROY RS MARTENS PR TEATHER TC HASHIMOTO K
Citation: Ek. Pivnick et al., HYPERTRICHOSIS, PIGMENTARY RETINOPATHY, AND FACIAL ANOMALIES - A NEW SYNDROME, American journal of medical genetics, 62(4), 1996, pp. 386-390
JACOBSEN-SYNDROME - REPORT OF A PATIENT WITH SEVERE EYE ANOMALIES, GROWTH-HORMONE DEFICIENCY, AND HYPOTHYROIDISM ASSOCIATED WITH DELETION-11(Q23Q25) AND REVIEW OF 52 CASES
Authors: PIVNICK EK VELAGALETI GVN WILROY RS SMITH ME ROSE SR TIPTON RE THARAPEL AT
Citation: Ek. Pivnick et al., JACOBSEN-SYNDROME - REPORT OF A PATIENT WITH SEVERE EYE ANOMALIES, GROWTH-HORMONE DEFICIENCY, AND HYPOTHYROIDISM ASSOCIATED WITH DELETION-11(Q23Q25) AND REVIEW OF 52 CASES, Journal of Medical Genetics, 33(9), 1996, pp. 772-778
GORLIN SYNDROME-ASSOCIATED WITH MIDLINE NASAL DERMOID CYST
Authors: PIVNICK EK WALTER AW LAWRENCE MD SMITH ME
Citation: Ek. Pivnick et al., GORLIN SYNDROME-ASSOCIATED WITH MIDLINE NASAL DERMOID CYST, Journal of Medical Genetics, 33(8), 1996, pp. 704-706
RICKETS SECONDARY TO PHOSPHATE-DEPLETION - A SEQUELA OF ANTACID USE IN INFANCY
Authors: PIVNICK EK KERR NC KAUFMAN RA JONES DP CHESNEY RW
Citation: Ek. Pivnick et al., RICKETS SECONDARY TO PHOSPHATE-DEPLETION - A SEQUELA OF ANTACID USE IN INFANCY, Clinical pediatrics, 34(2), 1995, pp. 73-78
DEFINING THE PRECISE BREAKPOINTS IN DEL(11Q) BY MICROSATELLITE POLYMORPHISM AND IN-SITU HYBRIDIZATION (ISH)
Authors: MICHAELIS RC PIVNICK EK GOPALRAO VVN WILROY RS TARLETON J PATIL SR THARAPEL AT
Citation: Rc. Michaelis et al., DEFINING THE PRECISE BREAKPOINTS IN DEL(11Q) BY MICROSATELLITE POLYMORPHISM AND IN-SITU HYBRIDIZATION (ISH), American journal of human genetics, 57(4), 1995, pp. 675-675
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