نتایج جستجو برای: pfeiffer

تعداد نتایج: 963  

2014
Abraham S.H. Breure Jonathan D. Ablett

UNLABELLED The type status is described of 404 taxa classified within the family Bulimulidae (superfamily Orthalicoidea) and kept in the London museum. Lectotypes are designated for Bulimus aurifluus Pfeiffer, 1857; Otostomus bartletti H. Adams, 1867; Helix cactorum d'Orbigny, 1835; Bulimus caliginosus Reeve, 1849; Bulimus chemnitzioides Forbes, 1850; Bulimus cinereus Reeve, 1849; Helix cora d'...

2015
Abraham S. H. Breure Jonathan D. Ablett

The type status is described for 65 taxa of the Orthalicoidea, classified within the families Megaspiridae (14), Orthalicidae (30), and Simpulopsidae (20); one taxon is considered a nomen inquirendum. Lectotypes are designated for the following taxa: Helixbrephoides d'Orbigny, 1835; Simpulopsiscumingi Pfeiffer, 1861; Bulimulus (Protoglyptus) dejectus Fulton, 1907; Bulimusiris Pfeiffer, 1853. Th...

Journal: :Orphanet Journal of Rare Diseases 2006
Annick Vogels Jean-Pierre Fryns

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three...

Journal: :Pondicherry Journal of Nursing 2017

Journal: :iranian journal of child neurology 0
sh. salehpour md, mph,assistant professor of pediatric endocrinology and metabolic diseases, genomic research center, shahid beheshti medical university s. saket pediatric senior resident, genomic research center m. houshmand ph.d. of molecular genetics,genetic department of special medical center ,national institute of genetic engineering & biotechnology

objective pfeiffer syndrome is as rare as apert syndrome in the western population. this condition is very rare in the asian population. at the best of our knowledge this is the first genetically proven case report from iran. the authors report with a review of literature, the case of a infant with pfeiffer syndrome, manifested by lacunar skull, ventriculomegaly, bicoronal craniosynostosis,fron...

2010
Min Young Lee Ga Won Jeon Ji Mi Jung Jong Beom Sin

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (F...

2012
Abraham S.H. Breure Jonathan D. Ablett

The type status is described for specimens of 84 taxa classified within the families Bothriembryontidae and Odontostomidae (superfamily Orthalicoidea) and kept in the Natural History Museum, London. Lectotypes are designated for Bulimus (Liparus) brazieri Angas, 1871; Bulimus broderipii Sowerby I, 1832; Bulimus fuligineus Pfeiffer, 1853; Helix guarani d'Orbigny, 1835; Bulimus (Tomigerus) ramage...

Journal: :Bulletin of the Detroit Museum of Art 1911

Journal: :Journal of Perinatology 2001

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