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[PMID]: 25610342
[Au] Autor:Shiraiwa K; Cong Q; Grishin NV
[Ad] Address:12416 Picrus Street, San Diego, CA, USA 92129.
[Ti] Title:A new Heraclides swallowtail (Lepidoptera, Papilionidae) from North America is recognized by the pattern on its neck.
[So] Source:Zookeys;(468):85-135, 2014.
[Is] ISSN:1313-2989
[Cp] Country of publication:Bulgaria
[La] Language:eng
[Ab] Abstract:Heraclidesrumiko Shiraiwa & Grishin, sp. n. is described from southwestern United States, Mexico, and Central America (type locality: USA, Texas, Duval County). It is closely allied to Heraclidescresphontes (Cramer, 1777) and the two species are sympatric in central Texas. The new species is diagnosed by male genitalia and exhibits a nearly 3% difference from Heraclidescresphontes in the COI DNA barcode sequence of mitochondrial DNA. The two Heraclides species can usually be told apart by the shape and size of yellow spots on the neck, by the wing shape, and the details of wing patterns. "Western Giant Swallowtail" is proposed as the English name for Heraclidesrumiko. To stabilize nomenclature, neotype for Papiliocresphontes Cramer, 1777, an eastern United States species, is designated from Brooklyn, New York, USA; and lectotype for Papiliothoas Linnaeus, 1771 is designated from Suriname. We sequenced DNA barcodes and ID tags of nearly 400 Papilionini specimens completing coverage of all Heraclides species. Comparative analyses of DNA barcodes, genitalia, and facies suggest that Heraclidesoviedo (Gundlach, 1866), reinstated status, is a species-level taxon rather than a subspecies of Heraclidesthoas (Linnaeus, 1771); and Heraclidespallas (G. Gray, [1853]), reinstated status, with its subspecies HeraclidesPapiliobajaensis (J. Brown & Faulkner, 1992), comb. n., and Heraclidesanchicayaensis Constantino, Le Crom & Salazar, 2002, stat. n., are not conspecific with Heraclidesastyalus (Godart, 1819).
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1501
[Cu] Class update date: 150124
[Lr] Last revision date:150124
[Da] Date of entry for processing:150122
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.3897/zookeys.468.8565

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[PMID]: 25070745
[Au] Autor:Nofal A; Assaf M; Ghonemy S; Nofal E; Yosef A
[Ad] Address:Department of Dermatology, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
[Ti] Title:Generalized eruptive keratoacanthoma: a diagnostic and therapeutic challenge.
[So] Source:Int J Dermatol;54(2):160-7, 2015 Feb.
[Is] ISSN:1365-4632
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Generalized eruptive keratoacanthoma (GEKA) is an extremely rare variant of keratoacanthoma that poses significant diagnostic and therapeutic challenges. PATIENTS: The study included three patients presenting with highly pruritic, generalized eruption of numerous small skin and flesh-colored follicular papules. They were mainly distributed on the face, neck, and trunk. Few larger nodules were also present. Mask-like facies, mucosal involvement, and ectropion were evident in two patients. Family history was irrelevant, and general examination was unremarkable. RESULTS: Histopathological examination revealed typical features of keratoacanthoma, particularly in the larger lesions. Routine laboratory tests were normal, and ultrasonography and computed tomography revealed no evidence of malignancy. Based on the clinicopathological correlation, the diagnosis of our cases was GEKA of Grzybowski. Acitretin 1 mg/kg per day and methotrexate 15 mg/week for three months were associated with mild or no response. Cyclophosphamide pulse therapy 1 g/month for six months was associated with complete clearance of the lesions in the first two patients, while the third was lost to follow-up after failure of acitretin therapy. CONCLUSION: Because of the extreme rarity of reported cases, the common absence of classic large lesions of keratoacanthoma, the atypical histological presentations in some cases, and absence of a uniformly effective therapeutic approach, we believe that GEKA still represents a diagnostic and therapeutic challenge. Cyclophosphamide pulse therapy is a promising alternative to oral retinoids.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1501
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1111/ijd.12308

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[PMID]: 25520359
[Au] Autor:Sansom RS; Randle E; Donoghue PC
[Ad] Address:Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, UK School of Earth Sciences, University of Bristol, Life Sciences Building, 24 Tyndall Avenue, Bristol BS8 1TQ, UK robert.sansom@manchester.ac.uk.
[Ti] Title:Discriminating signal from noise in the fossil record of early vertebrates reveals cryptic evolutionary history.
[So] Source:Proc Biol Sci;282(1800), 2015 Feb 7.
[Is] ISSN:1471-2954
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The fossil record of early vertebrates has been influential in elucidating the evolutionary assembly of the gnathostome bodyplan. Understanding of the timing and tempo of vertebrate innovations remains, however, mired in a literal reading of the fossil record. Early jawless vertebrates (ostracoderms) exhibit restriction to shallow-water environments. The distribution of their stratigraphic occurrences therefore reflects not only flux in diversity, but also secular variation in facies representation of the rock record. Using stratigraphic, phylogenetic and palaeoenvironmental data, we assessed the veracity of the fossil records of the jawless relatives of jawed vertebrates (Osteostraci, Galeaspida, Thelodonti, Heterostraci). Non-random models of fossil recovery potential using Palaeozoic sea-level changes were used to calculate confidence intervals of clade origins. These intervals extend the timescale for possible origins into the Upper Ordovician; these estimates ameliorate the long ghost lineages inferred for Osteostraci, Galeaspida and Heterostraci, given their known stratigraphic occurrences and stem-gnathostome phylogeny. Diversity changes through the Silurian and Devonian were found to lie within the expected limits predicted from estimates of fossil record quality indicating that it is geological, rather than biological factors, that are responsible for shifts in diversity. Environmental restriction also appears to belie ostracoderm extinction and demise rather than competition with jawed vertebrates.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1412
[Cu] Class update date: 150122
[Lr] Last revision date:150122
[Js] Journal subset:IM
[St] Status:In-Data-Review

  4 / 5469 MEDLINE  
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[PMID]: 24700710
[Au] Autor:Cooper PE; Reutter H; Woelfle J; Engels H; Grange DK; van Haaften G; van Bon BW; Hoischen A; Nichols CG
[Ad] Address:Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri.
[Ti] Title:Cantú syndrome resulting from activating mutation in the KCNJ8 gene.
[So] Source:Hum Mutat;35(7):809-13, 2014 Jul.
[Is] ISSN:1098-1004
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:ATP-sensitive potassium (KATP ) channels, composed of inward-rectifying potassium channel subunits (Kir6.1 and Kir6.2, encoded by KCNJ8 and KCNJ11, respectively) and regulatory sulfonylurea receptor (SUR1 and SUR2, encoded by ABCC8 and ABCC9, respectively), couple metabolism to excitability in multiple tissues. Mutations in ABCC9 cause Cantú syndrome (CS), a distinct multiorgan disease, potentially via enhanced KATP channel activity. We screened KCNJ8 in an ABCC9 mutation-negative patient who also exhibited clinical hallmarks of CS (hypertrichosis, macrosomia, macrocephaly, coarse facial appearance, cardiomegaly, and skeletal abnormalities). We identified a de novo missense mutation encoding Kir6.1[p.Cys176Ser] in the patient. Kir6.1[p.Cys176Ser] channels exhibited markedly higher activity than wild-type channels, as a result of reduced ATP sensitivity, whether coexpressed with SUR1 or SUR2A subunits. Our results identify a novel causal gene in CS, but also demonstrate that the cardinal features of the disease result from gain of KATP channel function, not from a Kir6-independent SUR2 function.
[Mh] MeSH terms primary: Cardiomegaly/genetics
Genetic Diseases, X-Linked/genetics
Hypertrichosis/genetics
KATP Channels/genetics
Mutation
Osteochondrodysplasias/genetics
[Mh] MeSH terms secundary: Adolescent
Cardiomegaly/diagnosis
DNA Mutational Analysis
Facies
Genetic Diseases, X-Linked/diagnosis
Humans
Hypertrichosis/diagnosis
KATP Channels/chemistry
KATP Channels/metabolism
Male
Membrane Potentials
Models, Molecular
Mutation, Missense
Osteochondrodysplasias/diagnosis
Phenotype
Protein Conformation
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (KATP Channels); 0 (uK-ATP-1 potassium channel)
[Em] Entry month:1501
[Cu] Class update date: 141229
[Lr] Last revision date:141229
[Js] Journal subset:IM
[Da] Date of entry for processing:140611
[St] Status:MEDLINE
[do] DOI:10.1002/humu.22555

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[PMID]: 24503149
[Au] Autor:Valdes-Miranda JM; Soto-Alvarez JR; Toral-Lopez J; González-Huerta L; Perez-Cabrera A; Gonzalez-Monfil G; Messina-Bass O; Cuevas-Covarrubias S
[Ad] Address:Servicio de Genética, Hospital General de México, Dr. Balmis 148 Col Doctores, México D.F., Mexico....
[Ti] Title:A novel microdeletion involving the 13q31.3-q32.1 region in a patient with normal intelligence.
[So] Source:Eur J Med Genet;57(2-3):60-4, 2014 Feb.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Microdeletions of the long arm of chromosome 13 lead to a characteristic facial appearance with systemic affection; 13q deletion shows a wide phenotypic spectrum that varies with respect to the location and size of the deletion region. The main clinical features are mental retardation, growth retardation, craniofacial dysmorphy and various congenital defects. In the present study we describe the case of an adult female of Mexican origin with microcephaly, facial dysmorphism, short stature, hand anomalies and normal intelligence associated with a de novo 13q31.3-q32.1 microdeletion that involved several genes including the MIR17HG and the GPC5 genes.
[Mh] MeSH terms primary: Chromosome Deletion
Chromosome Disorders/diagnosis
Chromosome Disorders/genetics
Chromosomes, Human, Pair 13
[Mh] MeSH terms secundary: Abnormalities, Multiple
Adult
Chromosome Banding
Comparative Genomic Hybridization
Facies
Female
Humans
In Situ Hybridization, Fluorescence
Phenotype
Polymorphism, Single Nucleotide
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1501
[Js] Journal subset:IM
[Da] Date of entry for processing:140401
[St] Status:MEDLINE

  6 / 5469 MEDLINE  
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[PMID]: 24462885
[Au] Autor:Dasouki M; Roberts J; Santiago A; Saadi I; Hovanes K
[Ad] Address:Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia. Electronic address: madasouki@kfshrc.edu.sa....
[Ti] Title:Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.
[So] Source:Eur J Med Genet;57(2-3):76-80, 2014 Feb.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Recently, 3 unrelated children with a potentially novel 3q26.33-3q27.2 microdeletion syndrome were reported. We now report a new 9 ½ years old Caucasian boy with a 2 Mb deletion of the same genomic region in combination with Klinefelter syndrome. He presented with facial dysmorphism, developmental delay, Asperger syndrome, thrombocytopenia, recurrent infections and hypogammaglobulinemia. The deletion in our patient improves upon the minimum region of the novel 3q26.33-3q27.2 microdeletion, and provides additional insights into the underlying genetic basis of the observed phenotypes. Consistent with two of three previously described patients, our patient also presents with thrombocytopenia, which we postulate is caused by haploinsufficiency of THPO. In addition, haploinsufficiency of LAMP3, a lymphoid and dendritic cell expressed protein that is implicated in bacterial and viral infections, pulmonary surfactant protein transport and amelogenin degradation, may be a novel cause for the immune deficiency, lung disease and dental abnormalities respectively as seen in these patients.
[Mh] MeSH terms primary: Chromosome Deletion
Chromosome Disorders/diagnosis
Chromosome Disorders/genetics
Chromosomes, Human, Pair 3
[Mh] MeSH terms secundary: Child
Comparative Genomic Hybridization
Facies
Humans
In Situ Hybridization, Fluorescence
Male
Syndrome
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1501
[Js] Journal subset:IM
[Da] Date of entry for processing:140401
[St] Status:MEDLINE

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[PMID]: 24462883
[Au] Autor:Rao A; O'Donnell S; Bain N; Meldrum C; Shorter D; Goel H
[Ad] Address:University of Newcastle, Newcastle - School of Medicine and Public Health, Faculty of Health, Level 1, Bowman Building, Callaghan, NSW 2308, Australia; Hunter Genetics, Newcastle, PO Box 84, Waratah, NSW 2298, Australia....
[Ti] Title:An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
[So] Source:Eur J Med Genet;57(2-3):65-70, 2014 Feb.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: Chromosome 1p31 deletion (OMIM #613735) involving the NFIA gene (OMIM 600727) is characterised by variable defects in the formation of the corpus callosum, craniofacial abnormalities and urinary tract defects. A review of current literature suggests only seven cases have been reported, none of which had an isolated NFIA gene defect. METHODS: We submit the clinical and molecular features of an 8-year-old female patient with a microdeletion of chromosome 1p31.3 who has developmental delay, metopic synostosis and macroscopic haemoglobinuria. She was investigated with karyotyping, subtelomeric FISH and microarray CGH. RESULTS: Array CGH identified a single 120 kb microdeletion of 1p31.3 involving exons 4-9 of the NFIA gene. Her brain MRI showed hypoplasia of the corpus callosum especially in the posterior areas. Karyotype was normal, ruling out structural chromosomal abnormalities. CONCLUSION: In this study, we confirmed that a microdeletion in the chromosome region 1p31.3 involving the NFIA gene is associated with hypoplasia of the corpus callosum, developmental delay, metopic synostosis and urinary tract abnormalities. Furthermore, we propose a mechanism by which disruptions in the NFIA gene causes craniofacial abnormalities. This report presents the first case of an intragenic deletion within the NFIA gene that is still consistent with classic clinical phenotypes present in previously reported cases of chromosome 1p31.3 related deletion. This finding will help clarify the role of the NFIA gene in the normal formation of parts of the CNS, the craniofacial complex and the urinary tract.
[Mh] MeSH terms primary: Abnormalities, Multiple/diagnosis
Abnormalities, Multiple/genetics
Chromosome Deletion
Corpus Callosum/pathology
Craniofacial Abnormalities/genetics
NFI Transcription Factors/genetics
Urinary Tract/abnormalities
[Mh] MeSH terms secundary: Child
Chromosome Mapping
Chromosomes, Human, Pair 1
Comparative Genomic Hybridization
Craniofacial Abnormalities/diagnosis
Facies
Female
Humans
Magnetic Resonance Imaging
Phenotype
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (NFI Transcription Factors); 0 (NFIA protein, human)
[Em] Entry month:1501
[Js] Journal subset:IM
[Da] Date of entry for processing:140401
[St] Status:MEDLINE

  8 / 5469 MEDLINE  
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[PMID]: 24380767
[Au] Autor:Di Donato N; Isidor B; Lopez Cazaux S; Le Caignec C; Klink B; Kraus C; Schrock E; Hackmann K
[Ad] Address:Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Fetscherstrasse 74, 01307 Dresden, Germany. Electronic address: nataliya.didonato@uniklinikum-dresden.de....
[Ti] Title:Distinct phenotype of PHF6 deletions in females.
[So] Source:Eur J Med Genet;57(2-3):85-9, 2014 Feb.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:We report on two female patients carrying small overlapping Xq26.2 deletions of 100 kb and 270 kb involving the PHF6 gene. Mutations in PHF6 have been reported in individuals with Borjeson-Forssman-Lehmann syndrome, a condition present almost exclusively in males. Two very recent papers revealed de novo PHF6 defects in seven female patients with intellectual disability and a phenotype resembling Coffin-Siris syndrome (sparse hair, bitemporal narrowing, arched eyebrows, synophrys, high nasal root, bulbous nasal tip, marked clinodactyly with the hypoplastic terminal phalanges of the fifth fingers and cutaneous syndactyly of the toes, Blaschkoid linear skin hyperpigmentation, dental anomalies and occasional major malformations). The clinical presentation of these patients overlaps completely with our first patient, who carries a germline deletion involving PHF6. The second patient has a mosaic deletion and presented with a very mild phenotype of PHF6 loss in females. Our report confirms that PHF6 loss in females results in a recognizable phenotype overlapping with Coffin-Siris syndrome and distinct from Borjeson-Forssman-Lehmann syndrome. We expand the clinical spectrum and provide the first summary of the recommended medical evaluation.
[Mh] MeSH terms primary: Carrier Proteins/genetics
Chromosome Disorders/diagnosis
Chromosome Disorders/genetics
Gene Deletion
Phenotype
[Mh] MeSH terms secundary: Abnormalities, Multiple/diagnosis
Chromosome Deletion
Chromosomes, Human, X
Comparative Genomic Hybridization
Epilepsy/diagnosis
Face/abnormalities
Facies
Female
Fingers/abnormalities
Growth Disorders/diagnosis
Hand Deformities, Congenital/diagnosis
Humans
Hypogonadism/diagnosis
In Situ Hybridization, Fluorescence
Infant
Intellectual Disability/diagnosis
Mental Retardation, X-Linked/diagnosis
Micrognathism/diagnosis
Neck/abnormalities
Obesity/diagnosis
X Chromosome Inactivation
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Carrier Proteins); 0 (PHF6 protein, human)
[Em] Entry month:1501
[Js] Journal subset:IM
[Da] Date of entry for processing:140401
[St] Status:MEDLINE

  9 / 5469 MEDLINE  
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[PMID]: 25608121
[Au] Autor:Paz JA; Kim CA; Goossens M; Giurgea I; Marques-Dias MJ
[Ad] Address:Unidade de Neurologia e Genética, Instituto da Criança, Hospital das Clínicas, Universidade de São Paulo, Sao Paulo, SP, Brazil....
[Ti] Title:Mowat-Wilson syndrome: neurological and molecular study in seven patients.
[So] Source:Arq Neuropsiquiatr;73(1):12-7, 2015 Jan.
[Is] ISSN:1678-4227
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract:Objective To present a seven-cases serie of Mowat-Wilson syndrome (MWS). Method All patients with positive mutation for the ZEB2 were evaluated by a geneticist and a neurologist, with clinical and laboratorial characterization. Results A peculiar facies and mental retardation were present in all patients. The Denver II scale showed intense delay in all aspects, especially fine motor and adaptive. Acquired microcephaly was observed in five patients. Only one patient did not present epilepsy. Epilepsy was focal and predominating in sleep, with status epilepticus in three patients. The initial seizure was associated with fever in most patients (4/6). The EEG showed epileptic focal activity (5/7). The imaging studies revealed total agenesis (4/7) and partial agenesis of the corpus callosum (1/7). Conclusion Physicians who care for patients with mental retardation and epilepsy should be aware of SMW.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1501
[Js] Journal subset:IM
[St] Status:In-Data-Review

  10 / 5469 MEDLINE  
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[PMID]: 25027363
[Au] Autor:Bethou A
[Ad] Address:Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.
[Ti] Title:Unmasking a mask-like face.
[So] Source:J Pediatr;165(4):873, 2014 Oct.
[Is] ISSN:1097-6833
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Blepharoptosis/physiopathology
Facies
Mobius Syndrome/physiopathology
[Mh] MeSH terms secundary: Brain/pathology
Child
Facial Expression
Humans
Magnetic Resonance Imaging
Male
Strabismus/physiopathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1501
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:140926
[St] Status:MEDLINE


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