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[PMID]: 27186810
[Au] Autor:Delarue F; Rouzaud JN; Derenne S; Bourbin M; Westall F; Kremer B; Sugitani K; Deldicque D; Robert F
[Ad] Address:1 IMPMC Sorbonne Universités-MNHN , UPMC Univ Paris 06, UMR CNRS 7590, IRD UMR 206, Paris, France ....
[Ti] Title:The Raman-Derived Carbonization Continuum: A Tool to Select the Best Preserved Molecular Structures in Archean Kerogens.
[So] Source:Astrobiology;16(6):407-17, 2016 Jun.
[Is] ISSN:1557-8070
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:UNLABELLED: The search for indisputable traces of life in Archean cherts is of prime importance. However, their great age and metamorphic history pose constraints on the study of molecular biomarkers. We propose a quantitative criterion to document the thermal maturity of organic matter in rocks in general, and Archean rocks in particular. This is definitively required to select the best candidates for seeking non-altered sample remnants of life. Analysis of chemical (Raman spectroscopy, (13)C NMR, elemental analysis) and structural (HRTEM) features of Archean and non-Archean carbonaceous matter (CM) that was submitted to metamorphic grades lower than, or equal to, that of greenschist facies showed that these features had all undergone carbonization but not graphitization. Raman-derived quantitative parameters from the present study and from literature spectra, namely, R1 ratio and FWHM-D1, were used to draw a carbonization continuum diagram showing two carbonization stages. While non-Archean samples can be seen to dominate the first stage, the second stage mostly consists of the Archean samples. In this diagram, some Archean samples fall at the boundary with non-Archean samples, which thus demonstrates a low degree of carbonization when compared to most Archean CM. As a result, these samples constitute candidates that may contain preserved molecular signatures of Archean CM. Therefore, with regard to the search for the oldest molecular traces of life on Earth, we propose the use of this carbonization continuum diagram to select the Archean CM samples. KEY WORDS: Archean-Early life-Kerogen-Raman spectroscopy-Carbonization. Astrobiology 16, 407-417.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1606
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1089/ast.2015.1392

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[PMID]: 26519726
[Au] Autor:Korgaonkar S; Vundinti BR
[Ad] Address:National Institute of Immunohaematology (ICMR), KEM Hospital Campus, Parel, Mumbai, India. vundintib_rao@yahoo.com.
[Ti] Title:Trisomy 8 Mosaicism in a Boy with Dysmorphic Features.
[So] Source:Indian Pediatr;52(9):812-3, 2015 Sep.
[Is] ISSN:0974-7559
[Cp] Country of publication:India
[La] Language:eng
[Mh] MeSH terms primary: Trisomy
Uniparental Disomy
[Mh] MeSH terms secundary: Child
Chromosomes, Human, Pair 8
Cytogenetic Analysis
Facies
Humans
Male
Mosaicism
[Pt] Publication type:CASE REPORTS; LETTER
[Em] Entry month:1606
[Js] Journal subset:IM
[Da] Date of entry for processing:151101
[St] Status:MEDLINE

  3 / 6086 MEDLINE  
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[PMID]: 26097216
[Au] Autor:Stevens CA
[Ad] Address:Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.
[Ti] Title:Intestinal malrotation in Rubinstein-Taybi syndrome.
[So] Source:Am J Med Genet A;167A(10):2399-401, 2015 Oct.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome which may include malformations of the central nervous system, heart, genitourinary tract, and other organs. However, intestinal malrotation has not been previously known to be associated with RSTS. This report documents six persons with RSTS who also had malrotation of the intestine requiring surgical repair. This suggests a possible increased frequency of malrotation in RSTS. Diagnostic studies for malrotation should be considered if recurrent vomiting, abdominal pain, and other symptoms of possible malrotation are present.
[Mh] MeSH terms primary: Digestive System Abnormalities/pathology
Intestinal Volvulus/pathology
Intestines/pathology
Rubinstein-Taybi Syndrome/pathology
[Mh] MeSH terms secundary: Digestive System Abnormalities/diagnosis
Digestive System Abnormalities/radiography
Digestive System Abnormalities/surgery
Female
Humans
Infant
Infant, Newborn
Intestinal Volvulus/diagnosis
Intestinal Volvulus/radiography
Intestinal Volvulus/surgery
Intestines/surgery
Male
Rubinstein-Taybi Syndrome/diagnosis
Rubinstein-Taybi Syndrome/radiography
Rubinstein-Taybi Syndrome/surgery
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1606
[Js] Journal subset:IM
[Da] Date of entry for processing:150911
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37167

  4 / 6086 MEDLINE  
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[PMID]: 26033841
[Au] Autor:Afifi HH; Fukai R; Miyake N; Gamal El Din AA; Eid MM; Eid OM; Thomas MM; El-Badry TH; Tosson AM; Abdel-Salam GM; Matsumoto N
[Ad] Address:Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt....
[Ti] Title:De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
[So] Source:Am J Med Genet A;167A(10):2418-24, 2015 Oct.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Generalized hypertrichosis is a feature of several genetic disorders, and the nosology of these entities is still provisional. Recent studies have implicated chromosome 17q24.2-q24.3 microdeletion and the reciprocal microduplication in a very rare form of congenital generalized hypertrichosis terminalis (CGHT) with or without gingival hyperplasia. Here, we report on a 5-year-old Egyptian girl born to consanguineous parents. The girl presented with CGHT and gingival hyperplasia for whom we performed detailed clinical, pathological, and molecular studies. The girl had coarse facies characterized by bilateral epicanthic folds, thick and abundant eyelashes, a broad nose, full cheeks, and lips that constituted the distinctive facial features for this syndrome. Biopsy of the gingiva showed epithelial marked acanthosis and hyperkeratosis with hyperplastic thick collagen bundles and dense fibrosis in the underlying tissues. Array analysis indicated a 17q24.2-q24.3 chromosomal microdeletion. We validated this microdeletion by real-time quantitative PCR and confirmed a perfect co-segregation of the disease phenotype within the family. In summary, this study indicates that 17q24.2-q24.3 microdeletion caused CGHT with gingival hyperplasia and distinctive facies, which should be differentiated from the autosomal recessive type that lacks the distinctive facies.
[Mh] MeSH terms primary: Facies
Fibromatosis, Gingival/diagnosis
Fibromatosis, Gingival/genetics
Hypertrichosis/diagnosis
Hypertrichosis/genetics
[Mh] MeSH terms secundary: Base Sequence
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 17/genetics
Consanguinity
DNA Mutational Analysis
Female
Fibromatosis, Gingival/pathology
Genotype
Humans
Hypertrichosis/pathology
Molecular Sequence Data
Phenotype
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1606
[Js] Journal subset:IM
[Da] Date of entry for processing:150911
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37185

  5 / 6086 MEDLINE  
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[PMID]: 26012591
[Au] Autor:Murray SB; Spangler BB; Helm BM; Vergano SS
[Ad] Address:Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia....
[Ti] Title:Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.
[So] Source:Am J Med Genet A;167A(10):2402-5, 2015 Oct.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, seizures, microcephaly, and distinct facial features. Additional findings include structural brain abnormalities, eye defects, congenital heart defects, Hirschsprung disease (HSCR), and genitourinary anomalies. It is caused by de novo heterozygous mutations or deletions of the ZEB2 gene on chromosome 2q21-q23. We report here on a 10-month-old boy with typical features of MWS who presented with the novel finding of polymicrogyria on brain magnetic resonance imaging. We also review the current literature regarding central nervous system anomalies in MWS.
[Mh] MeSH terms primary: Hirschsprung Disease/diagnosis
Homeodomain Proteins/genetics
Intellectual Disability/diagnosis
Microcephaly/diagnosis
Mutation
Polymicrogyria/diagnosis
Repressor Proteins/genetics
[Mh] MeSH terms secundary: Abnormalities, Multiple/pathology
Chromosomes, Human, Pair 2
Facies
Gene Expression
Heterozygote
Hirschsprung Disease/complications
Hirschsprung Disease/genetics
Hirschsprung Disease/pathology
Humans
Infant
Intellectual Disability/complications
Intellectual Disability/genetics
Intellectual Disability/pathology
Magnetic Resonance Imaging
Male
Microcephaly/complications
Microcephaly/genetics
Microcephaly/pathology
Polymicrogyria/complications
Polymicrogyria/genetics
Polymicrogyria/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Homeodomain Proteins); 0 (Repressor Proteins); 0 (ZEB2 protein, human)
[Em] Entry month:1606
[Js] Journal subset:IM
[Da] Date of entry for processing:150911
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37171

  6 / 6086 MEDLINE  
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[PMID]: 26336158
[Au] Autor:Chen JH; Segni M; Payne F; Huang-Doran I; Sleigh A; Adams C; Savage DB; O'Rahilly S; Semple RK; Barroso I; UK10K Consortium
[Ad] Address:The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group...
[Ti] Title:Truncation of POC1A associated with short stature and extreme insulin resistance.
[So] Source:J Mol Endocrinol;55(2):147-58, 2015 Oct.
[Is] ISSN:1479-6813
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three protein products of the gene. POC1A encodes a protein associated with centrioles throughout the cell cycle and implicated in both mitotic spindle and primary ciliary function. Three homozygous mutations affecting all isoforms of POC1A have recently been implicated in a similar syndrome of primordial dwarfism, although no detailed metabolic phenotypes were described. Primary cells from the proband we describe exhibited increased centrosome amplification and multipolar spindle formation during mitosis, but showed normal DNA content, arguing against mitotic skipping, cleavage failure or cell fusion. Despite evidence of increased DNA damage in cells with supernumerary centrosomes, no aneuploidy was detected. Extensive centrosome clustering both at mitotic spindles and in primary cilia mitigated the consequences of centrosome amplification, and primary ciliary formation was normal. Although further metabolic studies of patients with POC1A mutations are warranted, we suggest that POC1A may be added to ALMS1 and PCNT as examples of centrosomal or pericentriolar proteins whose dysfunction leads to extreme dyslipidaemic insulin resistance. Further investigation of links between these molecular defects and adipose tissue dysfunction is likely to yield insights into mechanisms of adipose tissue maintenance and regeneration that are critical to metabolic health.
[Mh] MeSH terms primary: Body Height/genetics
Centrioles/genetics
Dwarfism/genetics
Insulin Resistance/genetics
Proteins/genetics
[Mh] MeSH terms secundary: Adult
Amino Acid Sequence
Cell Cycle/genetics
Cell Cycle Proteins/genetics
Centrosome/physiology
Facies
Fatty Liver/genetics
Female
Frameshift Mutation/genetics
Humans
Mitosis/genetics
Molecular Sequence Data
Protein Isoforms/genetics
Sequence Alignment
Spindle Apparatus/physiology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Cell Cycle Proteins); 0 (POC1A protein, human); 0 (Protein Isoforms); 0 (Proteins)
[Em] Entry month:1606
[Cu] Class update date: 160412
[Lr] Last revision date:160412
[Js] Journal subset:IM
[Da] Date of entry for processing:150904
[St] Status:MEDLINE
[do] DOI:10.1530/JME-15-0090

  7 / 6086 MEDLINE  
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[PMID]: 25898814
[Au] Autor:Esplin ED; Chaib H; Haney M; Martin B; Homeyer M; Urban AE; Bernstein JA
[Ad] Address:Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California....
[Ti] Title:46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
[So] Source:Am J Med Genet A;167(6):1360-4, 2015 Jun.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been previously described with and without other congenital anomalies. Literature review identified five cases of 46,XY DSD associated with CDH and other congenital anomalies. These five cases share characteristics including CDH, 46,XY karyotype with external female appearing or ambiguous genitalia, cardiac anomalies, and decreased life span. The present case had novel features including truncus arteriosus, bifid thymus, gut malrotation, and limb anomalies consisting of rhizomelia and adactyly. With this case report, we present a review of the literature of cases of 46,XY DSD and CDH in association with multiple congenital abnormalities. This case may represent a unique syndrome of 46,XY DSD and diaphragmatic hernia or a more severe presentation of a syndrome represented in the previously reported cases.
[Mh] MeSH terms primary: 46, XY Disorders of Sex Development/genetics
Abnormalities, Multiple/genetics
Digestive System Abnormalities/genetics
Hand Deformities, Congenital/genetics
Heart Defects, Congenital/genetics
Hernias, Diaphragmatic, Congenital/genetics
Intestinal Volvulus/genetics
[Mh] MeSH terms secundary: 46, XY Disorders of Sex Development/pathology
Abnormalities, Multiple/pathology
Digestive System Abnormalities/pathology
Facies
Fatal Outcome
Female
Hand Deformities, Congenital/pathology
Heart Defects, Congenital/pathology
Hernias, Diaphragmatic, Congenital/pathology
Humans
Infant
Infant, Newborn
Intestinal Volvulus/pathology
Male
Thymus Gland/metabolism
Thymus Gland/pathology
Truncus Arteriosus/metabolism
Truncus Arteriosus/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Entry month:1602
[Cu] Class update date: 160608
[Lr] Last revision date:160608
[Js] Journal subset:IM
[Da] Date of entry for processing:150528
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37037

  8 / 6086 MEDLINE  
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[PMID]: 26488163
[Au] Autor:Carrillo-Briceño JD; Maxwell E; Aguilera OA; Sánchez R; Sánchez-Villagra MR
[Ad] Address:Paleontological Institute and Museum, University of Zurich, Zürich, Switzerland....
[Ti] Title:Sawfishes and Other Elasmobranch Assemblages from the Mio-Pliocene of the South Caribbean (Urumaco Sequence, Northwestern Venezuela).
[So] Source:PLoS One;10(10):e0139230, 2015.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The Urumaco stratigraphic sequence, western Venezuela, preserves a variety of paleoenvironments that include terrestrial, riverine, lacustrine and marine facies. A wide range of fossil vertebrates associated with these facies supports the hypothesis of an estuary in that geographic area connected with a hydrographic system that flowed from western Amazonia up to the Proto-Caribbean Sea during the Miocene. Here the elasmobranch assemblages of the middle Miocene to middle Pliocene section of the Urumaco sequence (Socorro, Urumaco and Codore formations) are described. Based on new findings, we document at least 21 taxa of the Lamniformes, Carcharhiniformes, Myliobatiformes and Rajiformes, and describe a new carcharhiniform species (†Carcharhinus caquetius sp. nov.). Moreover, the Urumaco Formation has a high number of well-preserved fossil Pristis rostra, for which we provide a detailed taxonomic revision, and referral in the context of the global Miocene record of Pristis as well as extant species. Using the habitat preference of the living representatives, we hypothesize that the fossil chondrichthyan assemblages from the Urumaco sequence are evidence for marine shallow waters and estuarine habitats.
[Mh] MeSH terms primary: Biological Evolution
Elasmobranchii/anatomy & histology
Elasmobranchii/classification
Fossils
Phylogeny
[Mh] MeSH terms secundary: Animals
Caribbean Region
Venezuela
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1606
[Cu] Class update date: 151030
[Lr] Last revision date:151030
[Js] Journal subset:IM
[Da] Date of entry for processing:151022
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0139230

  9 / 6086 MEDLINE  
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[PMID]: 25741831
[Au] Autor:Vieira GM; Franco EJ; da Rocha DF; de Oliveira LA; Amorim RF
[Ad] Address:Brazilian Dental Association....
[Ti] Title:Alternative treatment for open bite Class III malocclusion in a child with Williams-Beuren syndrome.
[So] Source:Dental Press J Orthod;20(1):97-107, 2015 Jan-Feb.
[Is] ISSN:2177-6709
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract:Williams-Beuren syndrome (WBS) is a rare genetic condition that affects approximately 1 in every 20,000 - 50,000 live births. WBS children have specific skeletal deformities, dental malformations and rare lingual muscle dysfunction. The need for orthodontic and orthognathic therapy has arisen and has been considered a real clinical challenge even for experienced professionals, once it requires a complex and individualized treatment plan. This study reports a case of orthopedic expansion of the maxilla, in which a modified facial mask was used for protraction of the maxillary complex associated with clockwise rotation of the maxilla. In addition, special considerations about treatment time and orthopedic outcomes are discussed.
[Mh] MeSH terms primary: Malocclusion, Angle Class III/therapy
Open Bite/therapy
Patient Care Planning
Williams Syndrome/complications
[Mh] MeSH terms secundary: Anodontia/pathology
Cephalometry/methods
Child
Diastema/pathology
Diastema/therapy
Extraoral Traction Appliances
Follow-Up Studies
Humans
Macroglossia/pathology
Male
Maxilla/abnormalities
Orthodontic Appliance Design
Orthodontics, Interceptive/instrumentation
Palatal Expansion Technique/instrumentation
Rotation
Tooth Abnormalities/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1606
[Cu] Class update date: 150327
[Lr] Last revision date:150327
[Js] Journal subset:D; IM
[Da] Date of entry for processing:150306
[St] Status:MEDLINE

  10 / 6086 MEDLINE  
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[PMID]: 26363895
[Au] Autor:Bouguila J; Besbes G; Khochtali H
[Ad] Address:Department of ENT, Maxillofacial and Aesthetic Surgery, La Rabta University Hospital, Tunis, Tunisia; Department of Maxillofacial, Plastic and Aesthetic Surgery, Sahloul University Hospital, Sousse, Tunisia; Laboratory of Oral Health and Facial Rehabilitation, Mounastir University, Tunisia. Electronic address: bouguila_jed@yahoo.fr.
[Ti] Title:Skeletal facial deformity in patients with ß thalassemia major: Report of one Tunisian case and a review of the literature.
[So] Source:Int J Pediatr Otorhinolaryngol;79(11):1955-8, 2015 Nov.
[Is] ISSN:1872-8464
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract:ß Thalassemia is an inherited genetic disorder of hemoglobin synthesis characterized by a reduction of ß chains of globin. Typical features of patients with ß thalassemia are skeletal modifications, particularly in the skull and in the facial bones. In thalassemia major, involvement of the facial skeleton can result in severe disfigurement, often referred to as "rodent facies". Various surgical approaches to correct the facial deformity have been advocated; however, treatment remains controversial. The worse the patient's systemic condition, the more unstable and more complicated the surgical procedure. Patient with multisystemic disorder and severe deformity, such as in our case, with a complete lack of cortical bone for bone fixation, might not be amenable to such procedures. Thorough knowledge of the multiple systemic manifestations, therapy, and prognosis of this syndrome is necessary to formulate a safe, comprehensive surgical plan for these patients.
[Mh] MeSH terms primary: Craniofacial Abnormalities/etiology
Facies
beta-Thalassemia/complications
beta-Thalassemia/pathology
[Mh] MeSH terms secundary: Adult
Craniofacial Abnormalities/pathology
Craniofacial Abnormalities/radiography
Female
Humans
Tunisia
beta-Thalassemia/radiography
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1606
[Js] Journal subset:IM
[Da] Date of entry for processing:151005
[St] Status:MEDLINE


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