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[PMID]: 25590701
[Au] Autor:Lopes RP; Dillenburg SR; Schultz CL; Ferigolo J; Ribeiro AM; Pereira JC; Holanda EC; Pitana VG; Kerber L
[Ad] Address:Programa de Pós-Graduação em Geociências, Universidade Federal do Rio Grande do Sul/UFRGS, Porto Alegre, RS, Brasil....
[Ti] Title:The sea-level highstand correlated to marine isotope stage (MIS) 7 in the coastal plain of the state of Rio Grande do Sul, Brazil.
[So] Source:An Acad Bras Cienc;86(4):1573-95, 2014 Dec.
[Is] ISSN:1678-2690
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract:The coastal plain of the state of Rio Grande do Sul, in southern Brazil, includes four barrier-lagoon depositional systems formed by successive Quaternary sea-level highstands that were correlated to marine isotope stages (MIS) 11, 9, 5 and 1, despite the scarcity of absolute ages. This study describes a sea-level highstand older than MIS 5, based on the stratigraphy, ages and fossils of the shallow marine facies found in coastal barrier (Barrier II). This facies outcrops along the banks of Chuí Creek, it is composed of fine, well-sorted quartz sand and contains ichnofossils Ophiomorpha nodosa and Rosselia sp., and molluscan shells. The sedimentary record indicates coastal aggradation followed by sea-level fall and progradation of the coastline. Thermoluminescence (TL) and electron spin resonance (ESR) ages from sediments and fossil shells point to an age of ∼220 ka for the end of this marine transgression, thus correlating it to MIS 7 (substage 7e). Altimetric data point to a maximum amplitude of about 10 meters above present-day mean sea-level, but tectonic processes may be involved. Paleoceanographic conditions at the time of the highstand and correlations with other deposits in the Brazilian coasts are also discussed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1501
[Js] Journal subset:IM
[St] Status:In-Data-Review

  2 / 5458 MEDLINE  
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[PMID]: 25224966
[Au] Autor:Thomas C; Ionescu D; Ariztegui D; DSDDP Scientific Team
[Ad] Address:Department of Earth Sciences, University of Geneva, Switzerland. Electronic address: camille.thomas@unige.ch.
[Ti] Title:Archaeal populations in two distinct sedimentary facies of the subsurface of the Dead Sea.
[So] Source:Mar Genomics;17:53-62, 2014 Oct.
[Is] ISSN:1876-7478
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Archaeal metabolism was studied in aragonitic and gypsum facies of the Dead Sea subsurface using high-throughput DNA sequencing. We show that the communities are well adapted to the peculiar environment of the Dead Sea subsurface. They harbor the necessary genes to deal with osmotic pressure using high- and low-salt-in strategies, and to cope with unusually high concentrations of heavy metals. Methanogenesis was identified for the first time in the Dead Sea and appears to be an important metabolism in the aragonite sediment. Fermentation of residual organic matter, probably performed by some members of the Halobacteria class is common to both types of sediments. The latter group represents more than 95% of the taxonomically identifiable Archaea in the metagenome of the gypsum sediment. The potential for sulfur reduction has also been revealed and is associated in the sediment with EPS degradation and Fe-S mineralization as revealed by SEM imaging. Overall, we show that distinct communities of Archaea are associated with the two different facies of the Dead Sea, and are adapted to the harsh chemistry of its subsurface, in different ways.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1412
[Js] Journal subset:IM
[St] Status:In-Process

  3 / 5458 MEDLINE  
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[PMID]: 25574171
[Au] Autor:Tarsitani G; Moroni C; Cappitelli F; Pasquariello G; Maggi O
[Ad] Address:Dipartimento di Scienze Medico-chirurgiche e Medicina Traslazionale, Sapienza Università di Roma, Piazzale Aldo Moro 5, 00185 Rome, Italy....
[Ti] Title:Microbiological Analysis of Surfaces of Leonardo Da Vinci's Atlantic Codex: Biodeterioration Risk.
[So] Source:Int J Microbiol;2014:214364, 2014.
[Is] ISSN:1687-918X
[Cp] Country of publication:Egypt
[La] Language:eng
[Ab] Abstract:Following the discovery of discoloration on some pages of the Atlantic Codex (AC) of Leonardo da Vinci kept in the Biblioteca Ambrosiana in Milan, some investigations have been carried out to verify the presence of microorganisms, such as bacteria and fungi. To verify the presence of microorganisms a noninvasive method of sampling has been used that was efficient and allowed us to highlight the microbial facies of the material that was examined using conventional microbiological techniques. The microclimatic conditions in the storage room as well as the water content of the volume were also assessed. The combined observations allowed the conclusion that the discoloration of suspected biological origin on some pages of AC is not related to the presence or current attack of microbial agents.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1501
[Cu] Class update date: 150114
[Lr] Last revision date:150114
[Da] Date of entry for processing:150109
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1155/2014/214364

  4 / 5458 MEDLINE  
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[PMID]: 25565733
[Au] Autor:Thakur AR; Naikmasur VG
[Ad] Address:Department of Oral Medicine and Radiology, Faculty of Dentistry, Jamia Millia Islamia, New Delhi, India.
[Ti] Title:A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome.
[So] Source:Indian J Dent;5(2):96-9, 2014 Apr.
[Is] ISSN:0975-962X
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:The clinical classification of Robinow-Sorauf syndrome has changed over the last few decades. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces. The current outlook is that the 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and that the 'Robinow-Sorauf' syndrome lies within the spectrum of the Saethre-Chotzen syndrome. We present a case of 19-year-old female patient exhibiting classical clinical and radiological features of Robinow-Sorauf phenotype of Saethre-Chotzen syndrome. A brief review of previously reported cases and nosology has been presented.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1501
[Cu] Class update date: 150113
[Lr] Last revision date:150113
[Da] Date of entry for processing:150108
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.4103/0975-962X.135276

  5 / 5458 MEDLINE  
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[PMID]: 23868653
[Au] Autor:Amrhein P; Sittel C; Spaich C; Kohlhase J; Boppert R; Kohlhof P; Koitschev A
[Ad] Address:Klinik für Hals- Nasen- Ohrenkrankheiten, Plastische Operationen, Klinikum Stuttgart, Stuttgart, Deutschland.
[Ti] Title:Speicheldrüsenchoristom im Mittelohr bei mittels Array-CGH diagnostiziertem branchiootorenalem Syndrom. [Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH].
[So] Source:HNO;62(5):374-7, 2014 May.
[Is] ISSN:1433-0458
[Cp] Country of publication:Germany
[La] Language:ger
[Ab] Abstract:Branchio-oto-renal (BOR) syndrome is characterized by ear malformations associated with sensorineural or mixed hearing loss. In addition, preauricular tags, preauricular pits, branchial cleft fistulas and cysts, as well as renal dysplasia are seen. A genetic mutation on chromosome 8, either autosomal dominantly inherited or occuring as a spontaneous mutation, is the cause in the majority of cases. Using array-based comparative genomic hybridization (CGH), it is possible to detect even the smallest genetic changes. Salivary gland choristoma in the middle ear is very rare. Surgical removal and histological clarification are required.
[Mh] MeSH terms primary: Branchio-Oto-Renal Syndrome/genetics
Choristoma/genetics
Comparative Genomic Hybridization/methods
Ear Diseases/genetics
Ear, Middle/surgery
Genetic Predisposition to Disease/genetics
Salivary Glands/surgery
[Mh] MeSH terms secundary: Branchio-Oto-Renal Syndrome/surgery
Choristoma/surgery
Ear Diseases/surgery
Humans
Infant
Male
Mutation/genetics
Oligonucleotide Array Sequence Analysis/methods
Treatment Outcome
[Pt] Publication type:CASE REPORTS; ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1501
[Js] Journal subset:IM
[Da] Date of entry for processing:140508
[St] Status:MEDLINE
[do] DOI:10.1007/s00106-013-2728-x

  6 / 5458 MEDLINE  
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[PMID]: 25190157
[Au] Autor:Zheng J; Huang Y; Zhao X; Sheng H; Cheng J; Zhou Z; Li X; Mao X; Liu L
[Ad] Address:The Guangzhou Women and Children's Medical Centre, Guangzhou 510623, China....
[Ti] Title:[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
[So] Source:Zhonghua Er Ke Za Zhi;52(6):403-8, 2014 Jun.
[Is] ISSN:0578-1310
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase B(ARSB), which is required in the degradation of dermatan sulfate and chondroitin sulfate. The deficiency of ARSB leads to an accumulation of dermatan sulfate and chondroitin sulfate in lysosomes and gross excretion in the urine.Few articles about clinical study and ARSB gene mutation analysis of Chinese MPS VI patients were published. This study aimed to explore the clinical features and characteristics of ARSB gene in Chinese children with MPS VI. METHOD: Thirteen children were diagnosed as MPS VI by ARSB enzyme activity determination during the period from 2009 to 2013. Their clinical features, radiological findings and urine glycosaminoglycan (GAG) levels were retrospectively reviewed. Direct sequencing was used to identify any mutation in the ARSB gene. RESULT: Thirteen children were diagnosed at the average age of (3.9 ± 2.2) years with 6 male and 7 female. All of these children presented with severe form and onset at an early age of (1.5 ± 0.8) years.Other clinical features included coarse facies, short stature, skeleton deformity, corneal clouding, hepatosplenomegaly with normal intelligence. The radiological findings in all children were characteristic of dysostosis multiplex, like abnormal development of vertebral bodies of the spine, campylorrhachia and paddle-shaped widened ribs. The MRI in case 2 showed cervical cord compression and multiple cysts degeneration in the corona radiate, cella lateralis and callosum.High urine GAG levels were detected, (307.10 ± 112.14) mg/L (Normally below 70 mg/L) and (722.28 ± 245.68) µg/mg creatinine. The ARSB enzyme activity in leukocytes was low, (13.29 ± 6.22) nmol/(mg×h) [Normal range (47-169) nmol/(mg×h)] by fluorogenic assay and (0.24 ± 0.18) U/g [Normal range (1.01-11.47) U/g] by colorimetric assay. A total of 11 mutations were identified by molecular analysis, including seven previously reported mutations (p.L72R, p.G167R, p.G303E, p.F399L, p. T442M, p.Y255X and p.R327X) and four novel mutations (p.Y175D, p.S403X, p.S464X and large deletion including ex. 2, 3). The c.1197C>G (p.F399L) mutation was the most common mutation in this study (31%). CONCLUSION: The severe form of MPS VI is characterized by early onset and rapid illness progression. Both the radiological findings and increased urine GAG are important clues to diagnose MPS VI.Large decrease or absence of ARSB activity is diagnostic for MPS VI.Four novel mutations of ARSB gene were identified. The reported mutation c.1197C>G (p.F399L) was the hot-spot mutation in this study.
[Mh] MeSH terms primary: Mucopolysaccharidosis VI/diagnosis
Mucopolysaccharidosis VI/genetics
Mutation
N-Acetylgalactosamine-4-Sulfatase/genetics
N-Acetylgalactosamine-4-Sulfatase/metabolism
[Mh] MeSH terms secundary: Bone and Bones/pathology
Bone and Bones/radiography
Brain/pathology
Child
Child, Preschool
Exons/genetics
Female
Glycosaminoglycans/urine
Humans
Infant
Magnetic Resonance Imaging
Male
Mucopolysaccharidosis VI/enzymology
Polymerase Chain Reaction
Retrospective Studies
Sequence Analysis, DNA
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Glycosaminoglycans); EC 3.1.6.12 (N-Acetylgalactosamine-4-Sulfatase)
[Em] Entry month:1501
[Js] Journal subset:IM
[Da] Date of entry for processing:140905
[St] Status:MEDLINE

  7 / 5458 MEDLINE  
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[PMID]: 24859493
[Au] Autor:Ziegler A; Guichet A; Pinson L; Barth M; Levade T; Bonneau D; Colin E
[Ad] Address:aDepartment of Biochemistry and Genetics, Angers University Hospital bDepartment of Medical Genetics, Montpellier University Hospital cLaboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, Hôpital Purpan, Toulouse, France.
[Ti] Title:Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome).
[So] Source:Clin Dysmorphol;23(3):109-10, 2014 Jul.
[Is] ISSN:1473-5717
[Cp] Country of publication:England
[La] Language:eng
[Mh] MeSH terms primary: Chromosome Deletion
Chromosomes, Human, Pair 4/genetics
Developmental Disabilities/diagnosis
Mongolian Spot/diagnosis
Wolf-Hirschhorn Syndrome/diagnosis
[Mh] MeSH terms secundary: Child
Developmental Disabilities/genetics
Female
Humans
Infant
Mongolian Spot/genetics
Wolf-Hirschhorn Syndrome/genetics
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1501
[Js] Journal subset:IM
[Da] Date of entry for processing:140602
[St] Status:MEDLINE
[do] DOI:10.1097/MCD.0000000000000041

  8 / 5458 MEDLINE  
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[PMID]: 24668897
[Au] Autor:Kuroda Y; Ohashi I; Tominaga M; Saito T; Nagai J; Ida K; Naruto T; Masuno M; Kurosawa K
[Ad] Address:Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
[Ti] Title:De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
[So] Source:Am J Med Genet A;164A(6):1550-4, 2014 Jun.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:17p13.1 Deletion encompassing TP53 has been described as a syndrome characterized by intellectual disability and dysmorphic features. Only one case with a 17p13.1 duplication encompassing TP53 has been reported in a patient with intellectual disability, seizures, obesity, and diabetes mellitus. Here, we present a patient with a 17p13.1 duplication who exhibited obesity and intellectual disability, similar to the previous report. The 9-year-old proposita was referred for the evaluation of intellectual disability and obesity. She also exhibited insulin resistance and liver dysfunction. She had wide palpebral fissures, upturned nostrils, a long mandible, short and slender fingers, and skin hyperpigmentation. Array comparative genomic hybridization (array CGH) detected a 3.2 Mb duplication of 17p13.1-p13.2 encompassing TP53, FXR2, NLGN2, and SLC2A4, which encodes the insulin-responsive glucose transporter 4 (GLUT4) associated with insulin-stimulated glucose uptake in adipocytes and muscle. We suggest that 17p13.1 duplication may represent a clinically recognizable condition characterized partially by a characteristic facial phenotype, developmental delay, and obesity.
[Mh] MeSH terms primary: Chromosome Duplication/genetics
Chromosomes, Human, Pair 17/genetics
Intellectual Disability/genetics
Obesity/genetics
[Mh] MeSH terms secundary: Cell Adhesion Molecules, Neuronal/genetics
Child
Comparative Genomic Hybridization
Developmental Disabilities/genetics
Facies
Female
Glucose Transporter Type 4/genetics
Humans
Insulin Resistance/genetics
Liver Diseases
Nerve Tissue Proteins/genetics
RNA-Binding Proteins/genetics
Tumor Suppressor Protein p53/genetics
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Cell Adhesion Molecules, Neuronal); 0 (FXR2 protein, human); 0 (Glucose Transporter Type 4); 0 (Nerve Tissue Proteins); 0 (RNA-Binding Proteins); 0 (SLC2A4 protein, human); 0 (TP53 protein, human); 0 (Tumor Suppressor Protein p53); 0 (neuroligin 2)
[Em] Entry month:1501
[Js] Journal subset:IM
[Da] Date of entry for processing:140508
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.36477

  9 / 5458 MEDLINE  
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[PMID]: 24668879
[Au] Autor:Goodwin AF; Oberoi S; Landan M; Charles C; Massie JC; Fairley C; Rauen KA; Klein OD
[Ad] Address:Program in Craniofacial and Mesenchymal Biology, and Division of Craniofacial Anomalies, Department of Orofacial Sciences, University of California San Francisco, San Francisco, California.
[Ti] Title:Craniofacial and dental development in Costello syndrome.
[So] Source:Am J Med Genet A;164A(6):1425-30, 2014 Jun.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein kinase (MAPK) signaling. Specifically, CS is caused by activating mutations in HRAS. Although receptor tyrosine kinase (RTK) signaling, which is upstream of Ras/MAPK, is known to play a critical role in craniofacial and dental development, the craniofacial and dental features of CS have not been systematically defined in a large group of individuals. In order to address this gap in our understanding and fully characterize the CS phenotype, we evaluated the craniofacial and dental phenotype in a large cohort (n = 41) of CS individuals. We confirmed that the craniofacial features common in CS include macrocephaly, bitemporal narrowing, convex facial profile, full cheeks, and large mouth. Additionally, CS patients have a characteristic dental phenotype that includes malocclusion with anterior open bite and posterior crossbite, enamel hypo-mineralization, delayed tooth development and eruption, gingival hyperplasia, thickening of the alveolar ridge, and high palate. Comparison of the craniofacial and dental phenotype in CS with other RASopathies, such as cardio-facio-cutaneous syndrome (CFC), provides insight into the complexities of Ras/MAPK signaling in human craniofacial and dental development.
[Mh] MeSH terms primary: Costello Syndrome/genetics
Craniofacial Abnormalities/embryology
Craniofacial Abnormalities/genetics
MAP Kinase Signaling System/genetics
Proto-Oncogene Proteins p21(ras)/genetics
[Mh] MeSH terms secundary: Abnormalities, Multiple/embryology
Abnormalities, Multiple/genetics
Adolescent
Adult
Child
Dental Enamel Hypoplasia/embryology
Dental Enamel Hypoplasia/genetics
Ectodermal Dysplasia/embryology
Ectodermal Dysplasia/genetics
Facies
Failure to Thrive/embryology
Failure to Thrive/genetics
Female
Gingival Hyperplasia/embryology
Gingival Hyperplasia/genetics
Heart Defects, Congenital/embryology
Heart Defects, Congenital/genetics
Humans
Male
Malocclusion/embryology
Malocclusion/genetics
Mitogen-Activated Protein Kinases/genetics
Mutation
Phosphatidylinositol 3-Kinases/genetics
Tooth/embryology
Tooth Abnormalities/embryology
Tooth Abnormalities/genetics
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Name of substance:EC 2.7.1.- (Phosphatidylinositol 3-Kinases); EC 2.7.11.24 (Mitogen-Activated Protein Kinases); EC 3.6.5.2 (HRAS protein, human); EC 3.6.5.2 (Proto-Oncogene Proteins p21(ras))
[Em] Entry month:1501
[Js] Journal subset:IM
[Da] Date of entry for processing:140508
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.36475

  10 / 5458 MEDLINE  
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[PMID]: 24668828
[Au] Autor:Huarte NM; Santos-Simarro F; Abascal IP; García-Miñaur S; Omeñaca F
[Ad] Address:Neonatology Department, Hospital Universitario La Paz, Madrid, Spain.
[Ti] Title:Chondrodysplasia punctata associated with maternal Sjögren syndrome.
[So] Source:Am J Med Genet A;164A(6):1606-10, 2014 Jun.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Autoantibodies/immunology
Chondrodysplasia Punctata/genetics
Pregnancy Complications/immunology
Sjogren´s Syndrome/immunology
[Mh] MeSH terms secundary: Child, Preschool
Facies
Female
Humans
Maternal-Fetal Exchange/immunology
Pregnancy
Sjogren's Syndrome/genetics
[Pt] Publication type:LETTER
[Nm] Name of substance:0 (Autoantibodies)
[Em] Entry month:1501
[Js] Journal subset:IM
[Da] Date of entry for processing:140508
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.36470


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