Database : MEDLINE Search on : Facies [Words] References found : 4752 [refine] Displaying: 1 .. 10   in format [Detailed]

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[PMID]: 22569110 [Au] Autor: Reis LM; Tyler RC; Volkmann Kloss BA; Schilter KF; Levin AV; Lowry RB; Zwijnenburg PJ; Stroh E; Broeckel U; Murray JC; Semina EV [Ad] Address: Department of Pediatrics and Children's Research Institute, Milwaukee, WI, USA. [Ti] Title: PITX2 and FOXC1 spectrum of mutations in ocular syndromes. [So] Source: Eur J Hum Genet;20(12):1224-33, 2012 Dec. [Is] ISSN: 1476-5438 [Cp] Country of publication: England [La] Language: eng [Ab] Abstract: Anterior segment dysgenesis (ASD) encompasses a broad spectrum of developmental conditions affecting anterior ocular structures and associated with an increased risk for glaucoma. Various systemic anomalies are often observed in ASD conditions such as Axenfeld-Rieger syndrome (ARS) and De Hauwere syndrome. We report DNA sequencing and copy number analysis of PITX2 and FOXC1 in 76 patients with syndromic or isolated ASD and related conditions. PITX2 mutations and deletions were found in 24 patients with dental and/or umbilical anomalies seen in all. Seven PITX2-mutant alleles were novel including c.708_730del, the most C-terminal mutation reported to date. A second case of deletion of the distant upstream but not coding region of PITX2 was identified, highlighting the importance of this recently discovered mechanism for ARS. FOXC1 deletions were observed in four cases, three of which demonstrated hearing and/or heart defects, including a patient with De Hauwere syndrome; no nucleotide mutations in FOXC1 were identified. Review of the literature identified several other patients with 6p25 deletions and features of De Hauwere syndrome. The 1.3-Mb deletion of 6p25 presented here defines the critical region for this phenotype and includes the FOXC1, FOXF2, and FOXQ1 genes. In summary, PITX2 or FOXC1 disruptions explained 63% of ARS and 6% of other ASD in our cohort; all affected patients demonstrated additional systemic defects with PITX2 mutations showing a strong association with dental and/or umbilical anomalies and FOXC1 with heart and hearing defects. FOXC1 deletion was also found to be associated with De Hauwere syndrome. [Mh] MeSH terms primary: Eye Abnormalities/genetics Forkhead Transcription Factors/genetics Homeodomain Proteins/genetics Mutation Transcription Factors/genetics [Mh] MeSH terms secundary: Alleles Anterior Eye Segment/abnormalities Bone and Bones/abnormalities DNA Copy Number Variations Eye Abnormalities/diagnosis Facies Female Gene Deletion Hearing Loss, Sensorineural/diagnosis Hearing Loss, Sensorineural/genetics Humans Hydrocephalus/diagnosis Hydrocephalus/genetics Hypertelorism/diagnosis Hypertelorism/genetics Joint Instability/diagnosis Joint Instability/genetics Male Muscle Hypotonia/diagnosis Muscle Hypotonia/genetics Oculomotor Muscles/abnormalities [Pt] Publication type: JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Name of substance: 0 (FOXC1 protein, human); 0 (Forkhead Transcription Factors); 0 (Homeodomain Proteins); 0 (Transcription Factors); 184787-43-7 (homeobox protein PITX2) [Em] Entry month: 1304 [Cu] Class update date: 130513 [Lr] Last revision date: 130513 [Js] Journal subset: IM [Da] Date of entry for processing: 121115 [St] Status: MEDLINE [do] DOI: 10.1038/ejhg.2012.80

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[PMID]: 23047070 [Au] Autor: Kennedy DP; Adolphs R [Ad] Address: California Institute of Technology, 1200 E. California Blvd, HSS 228-77, Caltech, Pasadena, CA 91125, USA. dpk@indiana.edu [Ti] Title: The social brain in psychiatric and neurological disorders. [So] Source: Trends Cogn Sci;16(11):559-72, 2012 Nov. [Is] ISSN: 1879-307X [Cp] Country of publication: England [La] Language: eng [Ab] Abstract: Psychiatric and neurological disorders have historically provided key insights into the structure-function relationships that subserve human social cognition and behavior, informing the concept of the 'social brain'. In this review, we take stock of the current status of this concept, retaining a focus on disorders that impact social behavior. We discuss how the social brain, social cognition, and social behavior are interdependent, and emphasize the important role of development and compensation. We suggest that the social brain, and its dysfunction and recovery, must be understood not in terms of specific structures, but rather in terms of their interaction in large-scale networks. [Mh] MeSH terms primary: Brain/physiopathology Cognition Disorders/physiopathology Nervous System Diseases/physiopathology Social Behavior Social Perception [Mh] MeSH terms secundary: Agenesis of Corpus Callosum/physiopathology Amygdala/physiopathology Child Child Development Disorders, Pervasive/etiology Child Development Disorders, Pervasive/physiopathology Humans Neuroimaging Williams Syndrome/etiology Williams Syndrome/physiopathology [Pt] Publication type: JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; REVIEW [Em] Entry month: 1303 [Cu] Class update date: 130513 [Lr] Last revision date: 130513 [Js] Journal subset: IM [Da] Date of entry for processing: 121026 [St] Status: MEDLINE

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[PMID]: 23547065 [Au] Autor: Beck NL; Morales AE; Buchmann RF; Birusingh RJ [Ad] Address: Division of Endocrinology, Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock, TX, USA. [Ti] Title: Obese 11-month-old female with round facies. [So] Source: Pediatr Rev;34(4):185-91, 2013 Apr. [Is] ISSN: 1526-3347 [Cp] Country of publication: United States [La] Language: eng [Pt] Publication type: JOURNAL ARTICLE [Em] Entry month: 1304 [Js] Journal subset: IM [St] Status: In-Process [do] DOI: 10.1542/pir.34-4-185

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[PMID]: 23658922 [Au] Autor: Kulakova KV; Sherbatyuk TG; Davidenko DV; Klintsova ES; Makusheva MA [Ad] Address: Group of Pathomorphology and Electron Microscopy, Nizhny Novgorod Research Institute of Traumatology and Orthopedics, Ministry of Health and Social Development of the Russian Federation; Department of Biology, Nizhny Novgorod State Medical Academy, Ministry of Health and Social Development of the Russian Federation, Russia. kulakova-k@yandex.ru. [Ti] Title: Dynamics of oxidative modification of proteins and specific structural features of blood plasma from animals with pliss lymphosarcoma. [So] Source: Bull Exp Biol Med;154(6):778-80, 2013 Mar. [Is] ISSN: 1573-8221 [Cp] Country of publication: United States [La] Language: eng; rus [Ab] Abstract: The growth of Pliss lymphosarcoma in experimental animals was followed by accumulation oxidative protein modification products and structural simplification of blood plasma facies pattern in the central and peripheral zones. A correlation was found between the tumor volume, blood content of aldehyde and ketone dinitrophenylhydrazones, and structural characteristics of the peripheral and central facies zone. [Pt] Publication type: JOURNAL ARTICLE [Em] Entry month: 1305 [Js] Journal subset: IM [St] Status: In-Data-Review

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[PMID]: 22378661 [Au] Autor: Ghosh PS; Friedman NR; Ghosh D [Ad] Address: Center for Pediatric Neurology, Cleveland Clinic, Cleveland, OH 44195, USA. ghoshp3@ccf.org [Ti] Title: Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. [So] Source: J Child Neurol;27(12):1602-6, 2012 Dec. [Is] ISSN: 1708-8283 [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: Pitt-Hopkins syndrome is characterized by marked intellectual impairment, hyperventilation episodes, and dysmorphic facial features. This article reports a boy who presented with developmental delay, facial dysmorphism, microcephaly, hypotonia, and areflexia. He was initially diagnosed with Charcot Marie Tooth disease type 1A based on family history and genetic testing. However, severe mental impairment was atypical of Charcot Marie Tooth disease type 1A. Over the next few years he developed characteristic breathing abnormality, hand stereotypies, seizures, and marked constipation. The evolution of these manifestations coupled with the characteristic facial appearance suggested the additional diagnosis of Pitt-Hopkins syndrome, which was confirmed by the genetic defect of the transcription factor 4 on chromosome 18. This case demonstrates the rare co-occurrence of 2 genetic disorders in the same individual. [Mh] MeSH terms primary: Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics Charcot-Marie-Tooth Disease/genetics Hyperventilation/genetics Intellectual Disability/genetics Transcription Factors/genetics [Mh] MeSH terms secundary: Charcot-Marie-Tooth Disease/complications Electroencephalography Facies Humans Hyperventilation/complications Infant Intellectual Disability/complications Magnetic Resonance Imaging Male [Pt] Publication type: CASE REPORTS; JOURNAL ARTICLE [Nm] Name of substance: 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors); 0 (TCF4 protein, human); 0 (Transcription Factors) [Em] Entry month: 1305 [Js] Journal subset: IM [Da] Date of entry for processing: 121127 [St] Status: MEDLINE [do] DOI: 10.1177/0883073812437242

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[PMID]: 23118870 [Au] Autor: Porter MA; Dobson-Stone C; Kwok JB; Schofield PR; Beckett W; Tassabehji M [Ad] Address: Psychology Department, Macquarie University, Sydney, Australia. melanie.porter@mq.edu.au [Ti] Title: A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome. [So] Source: PLoS One;7(10):e47457, 2012. [Is] ISSN: 1932-6203 [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: Executive functions are amongst the most heritable cognitive traits with twin studies indicating a strong genetic origin. However genes associated with this domain are unknown. Our research into the neurodevelopmental disorder Williams-Beuren syndrome (WBS) has identified a gene within the causative recurrent 1.5/1.6 Mb heterozygous microdeletion on chromosome 7q11.23, which may be involved in executive functioning. Comparative genome array screening of 55 WBS patients revealed a larger ∼1.8 Mb microdeletion in 18% of cases, which results in the loss of an additional gene, the transcription factor GTF2IRD2. The GTF gene family of transcription factors (GTF2I, GTF2IRD1 and GTF2IRD2) are all highly expressed in the brain, and GTF2I and GTF2IRD1 are involved in the pathogenesis of the cognitive and behavioural phenotypes associated with WBS. A multi-level analysis of cognitive, behavioural and psychological functioning in WBS patients showed that those with slightly larger deletions encompassing GTF2IRD2 were significantly more cognitively impaired in the areas of spatial functioning, social reasoning, and cognitive flexibility (a form of executive functioning). They also displayed significantly more obsessions and externalizing behaviours, a likely manifestation of poor cognitive flexibility and executive dysfunction. We provide the first evidence for a role for GTF2IRD2 in higher-level (executive functioning) abilities and highlight the importance of integrating detailed molecular characterisation of patients with comprehensive neuropsychological profiling to uncover additional genotype-phenotype correlations. The identification of specific genes which contribute to executive function has important neuropsychological implications in the treatment of patients with conditions like WBS, and will allow further studies into their mechanism of action. [Mh] MeSH terms primary: Cognition Genetic Association Studies Muscle Proteins/genetics Nuclear Proteins/genetics Trans-Activators/genetics Williams Syndrome [Mh] MeSH terms secundary: Amino Acid Sequence Chromosome Deletion Chromosomes, Human, Pair 7 Cognition/physiology Executive Function Female Humans Male Muscle Proteins/metabolism Muscle Proteins/physiology Nuclear Proteins/metabolism Nuclear Proteins/physiology Sequence Alignment Trans-Activators/metabolism Trans-Activators/physiology Transcription Factors, TFII/genetics Transcription Factors, TFII/metabolism Williams Syndrome/genetics Williams Syndrome/physiopathology Williams Syndrome/psychology [Pt] Publication type: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Name of substance: 0 (GTF2IRD2 protein, human); 0 (Muscle Proteins); 0 (Nuclear Proteins); 0 (Trans-Activators); 0 (Transcription Factors, TFII) [Em] Entry month: 1305 [Js] Journal subset: IM [Da] Date of entry for processing: 121102 [St] Status: MEDLINE [do] DOI: 10.1371/journal.pone.0047457

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[PMID]: 22914687 [Au] Autor: Ge X; Ren Y; Bartulos O; Lee MY; Yue Z; Kim KY; Li W; Amos PJ; Bozkulak EC; Iyer A; Zheng W; Zhao H; Martin KA; Kotton DN; Tellides G; Park IH; Yue L; Qyang Y [Ad] Address: YCVRC Section of Cardiovascular Medicine, Department of Internal Medicine, Yale School of Medicine, Yale Stem Cell Center, Ste 773A, 300 George St, New Haven, CT 06510, USA. [Ti] Title: Modeling supravalvular aortic stenosis syndrome with human induced pluripotent stem cells. [So] Source: Circulation;126(14):1695-704, 2012 Oct 2. [Is] ISSN: 1524-4539 [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: BACKGROUND: Supravalvular aortic stenosis (SVAS) is caused by mutations in the elastin (ELN) gene and is characterized by abnormal proliferation of vascular smooth muscle cells (SMCs) that can lead to narrowing or blockage of the ascending aorta and other arterial vessels. Having patient-specific SMCs available may facilitate the study of disease mechanisms and development of novel therapeutic interventions. METHODS AND RESULTS: Here, we report the development of a human induced pluripotent stem cell (iPSC) line from a patient with SVAS caused by the premature termination in exon 10 of the ELN gene resulting from an exon 9 four-nucleotide insertion. We showed that SVAS iPSC-derived SMCs (iPSC-SMCs) had significantly fewer organized networks of smooth muscle α-actin filament bundles, a hallmark of mature contractile SMCs, compared with control iPSC-SMCs. The addition of elastin recombinant protein or enhancement of small GTPase RhoA signaling was able to rescue the formation of smooth muscle α-actin filament bundles in SVAS iPSC-SMCs. Cell counts and BrdU analysis revealed a significantly higher proliferation rate in SVAS iPSC-SMCs than control iPSC-SMCs. Furthermore, SVAS iPSC-SMCs migrated at a markedly higher rate to the chemotactic agent platelet-derived growth factor compared with the control iPSC-SMCs. We also provided evidence that elevated activity of extracellular signal-regulated kinase 1/2 is required for hyperproliferation of SVAS iPSC-SMCs. The phenotype was confirmed in iPSC-SMCs generated from a patient with deletion of elastin owing to Williams-Beuren syndrome. CONCLUSIONS: SVAS iPSC-SMCs recapitulate key pathological features of patients with SVAS and may provide a promising strategy to study disease mechanisms and to develop novel therapies. [Mh] MeSH terms primary: Aortic Stenosis, Supravalvular/pathology Induced Pluripotent Stem Cells/pathology Williams Syndrome/pathology [Mh] MeSH terms secundary: Adult Animals Cells, Cultured Child Humans Male Mice [Pt] Publication type: JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T [Em] Entry month: 1212 [Cu] Class update date: 130508 [Lr] Last revision date: 130508 [Js] Journal subset: AIM; IM [Da] Date of entry for processing: 121002 [St] Status: MEDLINE [do] DOI: 10.1161/CIRCULATIONAHA.112.116996

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[PMID]: 22924605 [Au] Autor: Blouin M; Martel R; Gloaguen E [Ad] Address: Département des Sciences de la Terre, INRS-ETE, 490 rue de la Couronne, Québec, Qc, Canada, G1K 9A9. [Ti] Title: Accounting for aquifer heterogeneity from geological data to management tools. [So] Source: Ground Water;51(3):421-31, 2013 May. [Is] ISSN: 1745-6584 [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: A nested workflow of multiple-point geostatistics (MPG) and sequential Gaussian simulation (SGS) was tested on a study area of 6 km(2) located about 20 km northwest of Quebec City, Canada. In order to assess its geological and hydrogeological parameter heterogeneity and to provide tools to evaluate uncertainties in aquifer management, direct and indirect field measurements are used as inputs in the geostatistical simulations to reproduce large and small-scale heterogeneities. To do so, the lithological information is first associated to equivalent hydrogeological facies (hydrofacies) according to hydraulic properties measured at several wells. Then, heterogeneous hydrofacies (HF) realizations are generated using a prior geological model as training image (TI) with the MPG algorithm. The hydraulic conductivity (K) heterogeneity modeling within each HF is finally computed using SGS algorithm. Different K models are integrated in a finite-element hydrogeological model to calculate multiple transport simulations. Different scenarios exhibit variations in mass transport path and dispersion associated with the large- and small-scale heterogeneity respectively. Three-dimensional maps showing the probability of overpassing different thresholds are presented as examples of management tools. [Pt] Publication type: JOURNAL ARTICLE [Em] Entry month: 1305 [Js] Journal subset: IM [St] Status: In-Data-Review [do] DOI: 10.1111/j.1745-6584.2012.00982.x

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[PMID]: 22707356 [Au] Autor: Zatz M; Pavanello Rde C; Lourenço NC; Cerqueira A; Lazar M; Vainzof M [Ad] Address: Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Universidade de São Paulo, Rua do Matão, 106, Cidade Universitária, São Paulo, SP, 05508-090, Brazil. mayazatz@usp.br [Ti] Title: Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals. [So] Source: Neuromolecular Med;14(4):281-4, 2012 Dec. [Is] ISSN: 1559-1174 [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: Improvement in DNA technology is increasingly revealing unexpected/unknown mutations in healthy persons and generating anxiety due to their still unknown health consequences. We report a 44-year-old healthy father of a 10-year-old daughter with bilateral coloboma and hearing loss, but without muscle weakness, in whom a whole-genome CGH revealed a deletion of exons 38-44 in the dystrophin gene. This mutation was inherited from her asymptomatic father, who was further clinically and molecularly evaluated for prognosis and genetic counseling (GC). This deletion was never identified by us in 982 Duchenne/Becker patients. To assess whether the present case represents a rare case of non-penetrance, and aiming to obtain more information for prognosis and GC, we suggested that healthy older relatives submit their DNA for analysis, to which several complied. Mutation analysis revealed that his mother, brother, and 56-year-old maternal uncle also carry the 38-44 deletion, suggesting it an unlikely cause of muscle weakness. Genome sequencing will disclose mutations and variants whose health impact are still unknown, raising important problems in interpreting results, defining prognosis, and discussing GC. We suggest that, in addition to family history, keeping the DNA of older relatives could be very informative, in particular for those interested in having their genome sequenced. [Mh] MeSH terms primary: Biological Specimen Banks Chromosomes, Human, X/genetics Coloboma/genetics DNA/genetics Dystrophin/genetics Facies Genetic Variation/genetics Hearing Loss, Bilateral/genetics Hearing Loss, Sensorineural/genetics Sequence Deletion [Mh] MeSH terms secundary: Adult Asymptomatic Diseases Biopsy Causality Child Child Behavior Disorders/genetics Cognition Disorders/genetics Comparative Genomic Hybridization Dystrophin/physiology Exons/genetics Female Humans Incidental Findings Male Middle Aged Muscle, Skeletal/pathology Pedigree [Pt] Publication type: CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Name of substance: 0 (DMD protein, human); 0 (Dystrophin); 9007-49-2 (DNA) [Em] Entry month: 1305 [Js] Journal subset: IM [Da] Date of entry for processing: 121126 [St] Status: MEDLINE [do] DOI: 10.1007/s12017-012-8186-x

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[PMID]: 23053755 [Au] Autor: Kaissi AA; Chehida FB; Ghachem MB; Klaushofer K; Grill F [Ad] Address: First Medical Department, Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, Heinrich Collin Str. 30, 1140, Vienna, Austria, ali.alkaissi@osteologie.at. [Ti] Title: Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV). [So] Source: Eur Spine J;22 Suppl 3:409-15, 2013 May. [Is] ISSN: 1432-0932 [Cp] Country of publication: Germany [La] Language: eng [Ab] Abstract: We describe a male patient, who was seen for the first time at the age of 8 years because of short trunk dwarfism. Spine radiographs showed platyspondyly with irregular areas of increased and decreased mineralization (irregular spotted appearance within lytic lesions located along the posterior vertebral bodies of the entire spine). Skeletal survey showed no enchondromatous lesions of the short/long tubular bones. At the age of 17, progressive spine stiffness associated with stooping posture developed. 3DCT scanning showed pathological transformation of the spinal enchondromas into generalized ossification and thickening of the posterior vertebral elements (vertebral laminae, supraspinal, and interspinal ligaments, respectively) causing effectively the development of a diffuse posterior spinal ankylosis. We report what might be a unique subtype of spondyloenchondrodysplasia (Spranger type IV). [Pt] Publication type: JOURNAL ARTICLE [Em] Entry month: 1305 [Js] Journal subset: IM [St] Status: In-Data-Review [do] DOI: 10.1007/s00586-012-2518-2

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