Zobrazeno 1 - 10
of 31
pro vyhledávání: '"E K Schorry"'
Publikováno v:
Journal of Perinatology. 26:371-374
Two surviving female infants, born from a triplet pregnancy at 30 weeks gestation, were noted to have severe osteopenia and multiple fractures diagnosed at 20 days of age. Their mother had been treated for preterm labor with intravenous magnesium sul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bbbbff1ff7df13c3bcb75f39a0596d5
https://doi.org/10.1038/sj.jp.7211508
https://doi.org/10.1038/sj.jp.7211508
Publikováno v:
Human genetics. 119(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9bc49cd21ded247beb13c69763334bda
https://pubmed.ncbi.nlm.nih.gov/17128474
https://pubmed.ncbi.nlm.nih.gov/17128474
Autor:
D A, Stevenson, P H, Birch, J M, Friedman, D H, Viskochil, P, Balestrazzi, S, Boni, A, Buske, B R, Korf, M, Niimura, E K, Pivnick, E K, Schorry, M P, Short, R, Tenconi, J H, Tonsgard, J C, Carey
Publikováno v:
American journal of medical genetics. 84(5)
Five percent of individuals with neurofibromatosis type 1 (NF1) present with congenital long bone pseudarthrosis (PA). In large series, 50-80% of patients with congenital long bone PA also have NF1. Very little information exists on the natural histo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3bd50bbdab402cdc26864c0302147e5f
https://pubmed.ncbi.nlm.nih.gov/10360395
https://pubmed.ncbi.nlm.nih.gov/10360395
Autor:
E K, Schorry, K N, Dietrich, H M, Saal, R I, Blough, S, Dey, S, Chernausek, A, Milatovich-Cherry
Publikováno v:
American journal of medical genetics. 77(4)
We present two sibs with partial trisomy 1 (q31.1-q32.1) due to a familial insertion. Patient 1 is a girl who presented at age 9 months with minor anomalies, short stature, and normal psychomotor development. Karyotype was 46,XX,der(4)ins(4;1) (p14;q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::37bfc6a37fef059ffd4f10e86f1725c7
https://pubmed.ncbi.nlm.nih.gov/9600731
https://pubmed.ncbi.nlm.nih.gov/9600731
Publikováno v:
American journal of medical genetics. 74(5)
Thoracic tumors have been infrequently reported as a complication of neurofibromatosis-1 (NF1). To determine the prevalence and clinical features of thoracic tumors seen in children with NF1, we reviewed medical records and imaging studies for a grou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b69803704b1bf827856f4f1438afe22c
https://pubmed.ncbi.nlm.nih.gov/9342207
https://pubmed.ncbi.nlm.nih.gov/9342207
Publikováno v:
American journal of medical genetics. 66(4)
There is a well-known association between neurofibromatosis-1 (NF1) and Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d20338403054166ef564c51a046e09bd
https://pubmed.ncbi.nlm.nih.gov/8989459
https://pubmed.ncbi.nlm.nih.gov/8989459
Publikováno v:
Neurofibromatosis. 2(2)
The Neurofibromatosis Clinic of the Children's Hospital Medical Center in Cincinnati, Ohio, is a multidisciplinary clinic which provides comprehensive care for persons affected with neurofibromatosis. Data are presented on 78 patients who fulfill the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dc758b926c32947bc8f4738ee96ecb80
https://pubmed.ncbi.nlm.nih.gov/2516458
https://pubmed.ncbi.nlm.nih.gov/2516458
Autor:
Zloto K; Obstetrics and Gynecology Ultrasound Unit of the Maternity Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel., Weissbach T; Obstetrics and Gynecology Ultrasound Unit of the Maternity Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel., Messing B; Obstetrics and Gynecology Ultrasound Unit of the Maternity Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel., Birnbaum R; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Obstetrics & Gynecology Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Gindes L; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Obstetrics and Gynecology Unit, Edith Wolfson Medical Center, Holon, Israel., Levy M; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Obstetrics and Gynecology Unit, Edith Wolfson Medical Center, Holon, Israel., Lerman-Sagie T; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Obstetrics and Gynecology Unit, Edith Wolfson Medical Center, Holon, Israel., Hadi E; Obstetrics and Gynecology Ultrasound Unit of the Maternity Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel., Eliyahu A; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel., Feinstein-Goren N; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel., Kassif E; Obstetrics and Gynecology Ultrasound Unit of the Maternity Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Nov; Vol. 44 (12), pp. 1502-1508. Date of Electronic Publication: 2024 Sep 22.
Autor:
Perri L; Center for Rare Disease and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy., Viscogliosi G; Center for Rare Disease and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy., Trevisan V; Center for Rare Disease and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy.; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Medical Genetics Unit, Department of Laboratory and Infectious Sciences, Fondazione Policlinico Univaersitario A. Gemelli, IRCCS, Rome, Italy., Brogna C; Child Neurology and Psychiatric Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Univaersitario A. Gemelli, IRCCS, Rome, Italy., Chieffo DPR; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy., Contaldo I; Child Neurology and Psychiatric Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Univaersitario A. Gemelli, IRCCS, Rome, Italy., Alfieri P; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Lentini N; Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy., Pastorino R; Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy., Zampino G; Center for Rare Disease and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy., Leoni C; Center for Rare Disease and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy.
Publikováno v:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2024 Sep 27, pp. e33009. Date of Electronic Publication: 2024 Sep 27.
Autor:
Van Den Heuvel, Stefanie C M1 scm.vandenheuvel@amsterdamumc.nl, Winters, Hay A H1, Ultee, Klaas H1, Zijlstra-Koenrades, Nienke2, Sakkers, Ralph J B2
Publikováno v:
Acta Orthopaedica. Oct2020, Vol. 91 Issue 5, p605-610. 6p. 1 Black and White Photograph, 3 Charts.