Database : MEDLINE
Search on : Facies [Words]
References found : 5641 [refine]
Displaying: 1 .. 10   in format [Detailed]

page 1 of 565 go to page                         

  1 / 5641 MEDLINE  
              next record last record
select
to print
Photocopy
Full text

[PMID]: 26090456
[Au] Autor:Honjo RS; Dutra RL; Furusawa EA; Zanardo EA; Costa LS; Kulikowski LD; Bertola DR; Kim CA
[Ad] Address:Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, 05403-000 São Paulo, SP, Brazil....
[Ti] Title:Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.
[So] Source:Biomed Res Int;2015:903175, 2015.
[Is] ISSN:2314-6141
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Williams-Beuren syndrome (WBS) is a genetic disease caused by a microdeletion in the 7q11.23 region. It is characterized by congenital heart disease, mainly supravalvular aortic stenosis, mental retardation, mild short stature, facial dysmorphisms, and variable abnormalities in different systems. Objectives. To report the clinical findings of 55 Brazilian patients confirmed by multiplex ligation-dependent probe amplification (MLPA). Methods. Patients were followed up for 4 years at the Genetics Unit of the Instituto da Criança of the Hospital das Clínicas, FMUSP, Brazil. A kit specific for WBS was used to detect the 7q11.23 microdeletion. Results. Two patients with negative FISH results had positive MLPA results for WBS. The characteristics of the patients with the deletion were as follows: typical WBS facies (98.2%), neuropsychomotor delay (98.2%), hypersocial behavior (94.5%), hyperacusis (94.5%), and congenital heart disease (81.8%). Conclusions. MLPA was effective in detecting the microdeletion in the 7q11.23 region to confirm the diagnosis of WBS. MLPA was also able to confirm the diagnosis of WBS in two patients with typical clinical characteristics but negative FISH results. Thus, MLPA is a promising method in the diagnostic investigation of WBS. WBS is a multisystemic disorder and therefore requires multidisciplinary care and specific follow-up to prevent complications.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1506
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1155/2015/903175

  2 / 5641 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 26083612
[Au] Autor:Bernardi M; Klein H; Petti FM; Ezcurra MD
[Ad] Address:MuSe-Museo delle Scienze, Trento, Italy; School of Earth Sciences, University of Bristol, Bristol, United Kingdom....
[Ti] Title:The Origin and Early Radiation of Archosauriforms: Integrating the Skeletal and Footprint Record.
[So] Source:PLoS One;10(6):e0128449, 2015.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We present a holistic approach to the study of early archosauriform evolution by integrating body and track records. The ichnological record supports a Late Permian-Early Triassic radiation of archosauriforms not well documented by skeletal material, and new footprints from the Upper Permian of the southern Alps (Italy) provide evidence for a diversity not yet sampled by body fossils. The integrative study of body fossil and footprint data supports the hypothesis that archosauriforms had already undergone substantial taxonomic diversification by the Late Permian and that by the Early Triassic archosauromorphs attained a broad geographical distribution over most parts of Pangea. Analysis of body size, as deduced from track size, suggests that archosauriform average body size did not change significantly from the Late Permian to the Early Triassic. A survey of facies yielding both skeletal and track record indicate an ecological preference for inland fluvial (lacustrine) environments for early archosauromorphs. Finally, although more data is needed, Late Permian chirotheriid imprints suggest a shift from sprawling to erect posture in archosauriforms before the end-Permian mass extinction event. We highlight the importance of approaching palaeobiological questions by using all available sources of data, specifically through integrating the body and track fossil record.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1506
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1371/journal.pone.0128449

  3 / 5641 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 25742478
[Au] Autor:Kratz CP; Franke L; Peters H; Kohlschmidt N; Kazmierczak B; Finckh U; Bier A; Eichhorn B; Blank C; Kraus C; Kohlhase J; Pauli S; Wildhardt G; Kutsche K; Auber B; Christmann A; Bachmann N; Mitter D; Cremer FW; Mayer K; Daumer-Haas C; Nevinny-Stickel-Hinzpeter C; Oeffner F; Schlüter G; Gencik M; Überlacker B; Lissewski C; Schanze I; Greene MH; Spix C; Zenker M
[Ad] Address:Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Carl-Neuberg-Str. 1, Hannover 30625, Germany....
[Ti] Title:Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
[So] Source:Br J Cancer;112(8):1392-7, 2015 Apr 14.
[Is] ISSN:1532-1827
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Somatic mutations affecting components of the Ras-MAPK pathway are a common feature of cancer, whereas germline Ras pathway mutations cause developmental disorders including Noonan, Costello, and cardio-facio-cutaneous syndromes. These 'RASopathies' also represent cancer-prone syndromes, but the quantitative cancer risks remain unknown. METHODS: We investigated the occurrence of childhood cancer including benign and malignant tumours of the central nervous system in a group of 735 individuals with germline mutations in Ras signalling pathway genes by matching their information with the German Childhood Cancer Registry. RESULTS: We observed 12 cases of cancer in the entire RASopathy cohort vs 1.12 expected (based on German population-based incidence rates). This corresponds to a 10.5-fold increased risk of all childhood cancers combined (standardised incidence ratio (SIR)=10.5, 95% confidence interval=5.4-18.3). The specific cancers included juvenile myelomonocytic leukaemia=4; brain tumour=3; acute lymphoblastic leukaemia=2; rhabdomyosarcoma=2; and neuroblastoma=1. The childhood cancer SIR in Noonan syndrome patients was 8.1, whereas that for Costello syndrome patients was 42.4. CONCLUSIONS: These data comprise the first quantitative evidence documenting that the germline mutations in Ras signalling pathway genes are associated with increased risks of both childhood leukaemia and solid tumours.
[Mh] MeSH terms primary: Costello Syndrome/genetics
Ectodermal Dysplasia/genetics
Failure to Thrive/genetics
Heart Defects, Congenital/genetics
Neoplasms/epidemiology
Noonan Syndrome/genetics
ras Proteins/genetics
[Mh] MeSH terms secundary: Adolescent
Child
Child, Preschool
Costello Syndrome/pathology
Ectodermal Dysplasia/pathology
Facies
Failure to Thrive/pathology
Female
Germ-Line Mutation
Germany/epidemiology
Heart Defects, Congenital/pathology
Humans
Infant
Male
Neoplasms/etiology
Neoplasms/pathology
Noonan Syndrome/pathology
Registries
Risk Factors
Signal Transduction
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., INTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:EC 3.6.5.2 (ras Proteins)
[Em] Entry month:1506
[Cu] Class update date: 150427
[Lr] Last revision date:150427
[Js] Journal subset:IM
[Da] Date of entry for processing:150415
[St] Status:MEDLINE
[do] DOI:10.1038/bjc.2015.75

  4 / 5641 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
SciELO Brazil full text

[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.
[Mh] MeSH terms primary: Hirschsprung Disease/genetics
Homeodomain Proteins/genetics
Intellectual Disability/genetics
Microcephaly/genetics
Mutation
Repressor Proteins/genetics
[Mh] MeSH terms secundary: Child
Child, Preschool
Facies
Female
Hirschsprung Disease/physiopathology
Humans
Infant
Intellectual Disability/physiopathology
Male
Microcephaly/physiopathology
Retrospective Studies
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Homeodomain Proteins); 0 (Repressor Proteins); 0 (ZEB2 protein, human)
[Em] Entry month:1506
[Js] Journal subset:IM
[Da] Date of entry for processing:150122
[St] Status:MEDLINE

  5 / 5641 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
SciELO Brazil full text

[PMID]: 25608118
[Au] Autor:Steiner CE
[Ad] Address:Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
[Ti] Title:Mowat-Wilson syndrome.
[So] Source:Arq Neuropsiquiatr;73(1):1-2, 2015 Jan.
[Is] ISSN:1678-4227
[Cp] Country of publication:Brazil
[La] Language:eng
[Mh] MeSH terms primary: Facies
Hirschsprung Disease
Intellectual Disability
Microcephaly
[Mh] MeSH terms secundary: Hirschsprung Disease/genetics
Hirschsprung Disease/psychology
Humans
Intellectual Disability/genetics
Intellectual Disability/psychology
Microcephaly/genetics
Microcephaly/psychology
[Pt] Publication type:EDITORIAL; INTRODUCTORY JOURNAL ARTICLE
[Em] Entry month:1506
[Js] Journal subset:IM
[Da] Date of entry for processing:150122
[St] Status:MEDLINE

  6 / 5641 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 25836705
[Au] Autor:Adams DJ; Clark DA
[Ad] Address:Atlantic Health System, Morristown, NJ, USA; Albany Medical Center, Albany, NY, USA. Electronic address: Darius.adams@atlantichealth.org.
[Ti] Title:Common genetic and epigenetic syndromes.
[So] Source:Pediatr Clin North Am;62(2):411-26, 2015 Apr.
[Is] ISSN:1557-8240
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Cytogenetic anomalies should be considered in individuals with multiple congenital anomalies. DNA methylation analysis is the most sensitive initial test in evaluating for Prader-Willi and Angelman syndromes. The timely identification of cytogenetic anomalies allows for prompt initiation of early intervention services to maximize the potential of every individual as they grow older. Although many of these conditions are rare, keeping them in mind can have a profound impact on the clinical course of affected individuals. This article reviews some of the more common genetic syndromes.
[Mh] MeSH terms primary: Chromosome Disorders/diagnosis
Epigenesis, Genetic
[Mh] MeSH terms secundary: Alagille Syndrome/diagnosis
Alagille Syndrome/genetics
Angelman Syndrome/diagnosis
Angelman Syndrome/genetics
Beckwith-Wiedemann Syndrome/diagnosis
Beckwith-Wiedemann Syndrome/genetics
Chromosome Deletion
Chromosome Disorders/genetics
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 18
Classical Lissencephalies and Subcortical Band Heterotopias/diagnosis
Classical Lissencephalies and Subcortical Band Heterotopias/genetics
DNA Methylation
DiGeorge Syndrome/diagnosis
DiGeorge Syndrome/genetics
Down Syndrome/diagnosis
Genetic Counseling
Humans
Klinefelter Syndrome/diagnosis
Klinefelter Syndrome/genetics
Prader-Willi Syndrome/diagnosis
Prader-Willi Syndrome/genetics
Smith-Magenis Syndrome/diagnosis
Smith-Magenis Syndrome/genetics
Trisomy/diagnosis
Turner Syndrome/diagnosis
Turner Syndrome/genetics
WAGR Syndrome/diagnosis
WAGR Syndrome/genetics
Williams Syndrome/diagnosis
Williams Syndrome/genetics
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1506
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:150403
[St] Status:MEDLINE

  7 / 5641 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 24246242
[Au] Autor:Euteneuer J; Carvalho CM; Kulkarni S; Vineyard M; Grady RM; Lupski JR; Shinawi M
[Ad] Address:Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
[Ti] Title:Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
[So] Source:Clin Genet;86(5):487-91, 2014 Nov.
[Is] ISSN:1399-0004
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:Williams-Beuren syndrome (WBS) is a multisystemic genomic disorder typically caused by a recurrent ˜1.5-1.8 Mb deletion on 7q11.23. Atypical deletions can provide important insight into the genotype-phenotype correlations. Here, we report the phenotypic and molecular characterization of a girl with a de novo 81.8 kb deletion in the WBS critical region, which involves the ELN and LIMK1 genes only. The patient presented at 2 months of age with extensive vascular abnormalities, mild facial dysmorphism and delays in her fine motor skills. We discuss potential molecular mechanisms and the role of ELN and LIMK1 in the different phenotypic features. We compare the findings in our patient with previously reported overlapping deletions. The phenotypic variability among these patients suggests that other factors are important in the phenotype and possibly include: position effects related to copy number variation size, variations in the non-deleted alleles, genetic modifiers elsewhere in the genome, or reduced penetrance for specific phenotypes.
[Mh] MeSH terms primary: Genetic Association Studies
Williams Syndrome/genetics
Williams Syndrome/pathology
[Mh] MeSH terms secundary: Base Sequence
Chromosome Breakage
Chromosomes, Human/genetics
Comparative Genomic Hybridization
Female
Gene Deletion
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Male
Molecular Sequence Data
Oligonucleotide Array Sequence Analysis
Sequence Analysis, DNA
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1506
[Js] Journal subset:IM
[Da] Date of entry for processing:141017
[St] Status:MEDLINE
[do] DOI:10.1111/cge.12305

  8 / 5641 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 25234063
[Au] Autor:Lacombe D; Morice-Picard F
[Ad] Address:Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, 33076, Bordeaux, France. didier.lacombe@chu-bordeaux.fr.
[Ti] Title:Rare genetic diseases, signalling pathways, and keloid scar formation.
[So] Source:Br J Dermatol;171(3):452-3, 2014 Sep.
[Is] ISSN:1365-2133
[Cp] Country of publication:England
[La] Language:eng
[Mh] MeSH terms primary: Keloid/pathology
Rubinstein-Taybi Syndrome/pathology
[Mh] MeSH terms secundary: Female
Humans
Male
[Pt] Publication type:COMMENT; JOURNAL ARTICLE
[Em] Entry month:1506
[Js] Journal subset:IM
[Da] Date of entry for processing:140919
[St] Status:MEDLINE
[do] DOI:10.1111/bjd.13257

  9 / 5641 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy

[PMID]: 25872300
[Au] Autor:Jinliang Z; Xun L; Yujun J; Shanshan X; Xiaohua D; Yuanping C
[Ti] Title:[Using Coben analysis to evaluate the therapeutic effect of maxillary protraction on maxillary maldevelopment].
[So] Source:Hua Xi Kou Qiang Yi Xue Za Zhi;33(1):58-62, 2015 Feb.
[Is] ISSN:1000-1182
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: We aims to evaluate the therapeutic effect of maxillary protraction on maxillary maldevelopment using Coben analysis to illustrate the advantages of Coben analysis in identifying pathogenic mechanisms and in designing treatment plans for Class III malocclusions. METHODS: A total of 120 patients were diagnosed to have skeletal Class I maloc- clusions with maxillary maldevelopment. These patients were selected as the subjects of the present research. Maxillary protraction was exerted to promote maxilla growth. Cephalometric analysis was conducted by using Coben analysis and angle analyses of Beijing Medical University to collect data before and after maxillary protraction. RESULTS: According to Coben analysis measurements, the height of facies cranii increased after maxillary protraction. The depth of lower face decreased, whereas that of mid-face increased and the Ptm-A value increased significantly in the mid-face (P < 0.001). In the angle ana- lysis of Beijing Medical University, SNA, ANB, U1/NA, U1/SN, MP/SN, and Y-axis angles increased significantly (P < 0.001), whereas SNB, U1/L1 (P < 0.001), and L1/MP (P < 0.05) decreased. CONCLUSION: Maxillary protraction has a significant effect on growing skeletal Class III malocclusions withthe chief mechanism of Ptm-A value just diagnosed as minor by Coben analysis. Coben analysis is visual and clear in identifying pathogenic mechanisms of Class III malocclusions.
[Mh] MeSH terms primary: Malocclusion, Angle Class III
Maxilla
[Mh] MeSH terms secundary: Cephalometry
Face
Humans
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1506
[Js] Journal subset:D; IM
[Da] Date of entry for processing:150415
[St] Status:MEDLINE

  10 / 5641 MEDLINE  
              first record previous record
select
to print
Photocopy
Full text

[PMID]: 25132000
[Au] Autor:van de Kar AL; Houge G; Shaw AC; de Jong D; van Belzen MJ; Peters DJ; Hennekam RC
[Ad] Address:Department of Plastic Surgery, Academic Medical Center, University of Amsterdam, Amsterdam, 1105 AZ, The Netherlands; Department of Plastic Surgery, Onze Lieve Vrouwe Gasthuis, Amsterdam, The Netherlands.
[Ti] Title:Keloids in Rubinstein-Taybi syndrome: a clinical study.
[So] Source:Br J Dermatol;171(3):615-21, 2014 Sep.
[Is] ISSN:1365-2133
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies-intellectual disability syndrome. One of the complications is keloid formation. Keloids are proliferative fibrous growths resulting from excessive tissue response to skin trauma. OBJECTIVES: To describe the clinical characteristics of keloids in individuals with RSTS reported in the literature and in a cohort of personally evaluated individuals with RSTS. PATIENTS AND METHODS: We performed a literature search for descriptions of RSTS individuals with keloids. All known individuals with RSTS in the Netherlands filled out three dedicated questionnaires. All individuals with (possible) keloids were personally evaluated. A further series of individuals with RSTS from the U.K. was personally evaluated. RESULTS: Reliable data were available for 62 of the 83 Dutch individuals with RSTS and showed 15 individuals with RSTS (24%) to have keloids. The 15 Dutch and 12 U.K. individuals with RSTS with keloids demonstrated that most patients have multiple keloids (n > 1: 82%; n > 5: 30%). Mean age of onset is 11·9 years. The majority of keloids are located on the shoulders and chest. The mean length × width of the largest keloid was 7·1 × 2·8 cm, and the mean thickness was 0·7 cm. All affected individuals complained of itching. Generally, treatment results were disappointing. CONCLUSIONS: Keloids occur in 24% of individuals with RSTS, either spontaneously or after a minor trauma, usually starting in early puberty. Management schedules have disappointing results. RSTS is a Mendelian disorder with a known molecular basis, and offers excellent opportunities to study the pathogenesis of keloids in general and to search for possible treatments.
[Mh] MeSH terms primary: Keloid/pathology
Rubinstein-Taybi Syndrome/pathology
[Mh] MeSH terms secundary: Age of Onset
Cohort Studies
Female
Humans
Keloid/etiology
Male
Questionnaires
Rubinstein-Taybi Syndrome/etiology
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1506
[Js] Journal subset:IM
[Da] Date of entry for processing:140919
[St] Status:MEDLINE
[do] DOI:10.1111/bjd.13124


page 1 of 565 go to page                         
   


Refine the search
  Database : MEDLINE Advanced form   

    Search in field  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/PAHO/WHO - Latin American and Caribbean Center on Health Sciences Information