Zobrazeno 1 - 10
of 18
pro vyhledávání: '"R W, Marion"'
Autor:
E. Paljevic, R. W. Marion
Publikováno v:
Pediatrics in Review. 41:99-99
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03415db9bf43e5437994c14674d9fc1e
https://doi.org/10.1542/pir.412correction
https://doi.org/10.1542/pir.412correction
Publikováno v:
Human Genetics. 104:94-98
Glycogen storage disease type II (GSDII) is an autosomal recessive disorder resulting from inherited deficiency of the enzyme lysosomal acid alpha-glucosidase. Over 40 different mutations have been described but no large deletions have been previousl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::939ec03e663a8c3fea4a59f51d68a604
https://doi.org/10.1007/s004390050916
https://doi.org/10.1007/s004390050916
Autor:
J C, Ferreira, S M, Carter, P S, Bernstein, E W, Jabs, J S, Glickstein, R W, Marion, R N, Baergen, S J, Gross
Publikováno v:
Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 14(6)
Apert syndrome, an autosomal dominant disorder characterized by craniosynostosis, mid-facial malformations, symmetric bony syndactyly of hands and feet, and varying degrees of mental retardation, is most frequently caused by a de novo mutation. Two m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::49b8297f44fe2ef86d5a552e9ca9f1c4
https://pubmed.ncbi.nlm.nih.gov/10658283
https://pubmed.ncbi.nlm.nih.gov/10658283
Autor:
R W, Marion
Publikováno v:
American journal of medical genetics. 90(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::563373dc98664c1227e08e056140f2c4
https://pubmed.ncbi.nlm.nih.gov/10607944
https://pubmed.ncbi.nlm.nih.gov/10607944
Publikováno v:
American journal of medical genetics. 78(3)
The combination of complex congenital heart disease (double outlet right ventricle with pulmonary atresia, malalignment ventriculoseptal defect, right-sided aortic arch with left ductus arteriosus) and bladder exstrophy occurred in an infant with Opi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dfd2408758ed29001c23a2e043ab4e11
https://pubmed.ncbi.nlm.nih.gov/9677070
https://pubmed.ncbi.nlm.nih.gov/9677070
Publikováno v:
American journal of medical genetics. 75(3)
Pfeiffer syndrome (PS) is an autosomal dominant condition comprising bilateral coronal craniosynostosis, midface hypoplasia with a beaked nasal tip, and broad and medially deviated thumbs and great toes. It is a clinically variable disorder and has b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e6300bc8f4525fecfe16aad7eef8f20
https://pubmed.ncbi.nlm.nih.gov/9475589
https://pubmed.ncbi.nlm.nih.gov/9475589
Publikováno v:
American journal of medical genetics. 70(2)
Seckel syndrome (SS) is a rare, heterogeneous form of primordial dwarfism. The clinical delineation of this disorder has been inconsistent, using even Seckel's original criteria. As a result, probably fewer than one-third of reported cases are truly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::993bb0bf7193f6ffea30aba72ba4ea42
https://pubmed.ncbi.nlm.nih.gov/9128935
https://pubmed.ncbi.nlm.nih.gov/9128935
Publikováno v:
American journal of medical genetics. 70(1)
The Marshall syndrome is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. To our knowledge, only seven additional multigenerational families have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::47f7b007e93d4ba9dc47add83c62f53d
https://pubmed.ncbi.nlm.nih.gov/9129742
https://pubmed.ncbi.nlm.nih.gov/9129742
Publikováno v:
Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics. 83(4)
Miles, Lovas, and Cohen first described hemimaxillofacial dysplasia in two patients in 1987. This disorder consists of facial asymmetry, facial hypertrichosis, unilateral maxillary hyperplasia, and hypoplastic teeth. We report two additional cases wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::965cfbaee5218c4206b0d558ce07083d
https://pubmed.ncbi.nlm.nih.gov/9127382
https://pubmed.ncbi.nlm.nih.gov/9127382
Publikováno v:
Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 8(6)
Pfeiffer syndrome is an autosomal dominantly inherited disorder consisting of craniosynostosis, a flattened midface with a beaked nose and ocular proptosis, and broad and medially deviated thumbs and great toes. Recently, based on clinical findings,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6aed460fa51d2c6d49789dd3ba8203fd
https://pubmed.ncbi.nlm.nih.gov/9014285
https://pubmed.ncbi.nlm.nih.gov/9014285