WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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1. 周期性発熱症候群およびその他の自己炎症性疾患：概要 periodic fever syndromes and other autoinflammatory diseases an overview
2. 尋常性ざ瘡の病因、臨床症状、および診断 pathogenesis clinical manifestations and diagnosis of acne vulgaris
3. 壊疽性膿皮症：病因、臨床症状、および診断 pyoderma gangrenosum pathogenesis clinical features and diagnosis

English Journal

Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome.

Abdalla EM, Morsy Abd Elkader H.
Clinical genetics.Clin Genet.2013 Sep;84(3):300-1. doi: 10.1111/cge.12068. Epub 2012 Dec 21.
PMID 23278251

Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.

Gripp KW1, Ennis S, Napoli J.
American journal of medical genetics. Part A.Am J Med Genet A.2013 May;161A(5):1058-63. doi: 10.1002/ajmg.a.35913.
Exome analysis has had a dramatic impact on genetic research. We present the application of such newly generated information to patient care. The patient was a female, born with normal growth parameters to nonconsanguineous parents after an uneventful pregnancy. She had bilateral cleft lip/palate an
PMID 23610050

Phosphorylation of Dishevelled by protein kinase RIPK4 regulates Wnt signaling.

Huang X1, McGann JC, Liu BY, Hannoush RN, Lill JR, Pham V, Newton K, Kakunda M, Liu J, Yu C, Hymowitz SG, Hongo JA, Wynshaw-Boris A, Polakis P, Harland RM, Dixit VM.
Science (New York, N.Y.).Science.2013 Mar 22;339(6126):1441-5. doi: 10.1126/science.1232253. Epub 2013 Jan 31.
Receptor-interacting protein kinase 4 (RIPK4) is required for epidermal differentiation and is mutated in Bartsocas-Papas syndrome. RIPK4 binds to protein kinase C, but its signaling mechanisms are largely unknown. Ectopic RIPK4, but not catalytically inactive or Bartsocas-Papas RIPK4 mutants, induc
PMID 23371553

Related Links

Bartsocas-Papas syndrome - RightDiagnosis.com

Bartsocas-Papas syndrome symptoms, causes, diagnosis, and treatment information for Bartsocas-Papas syndrome (Bartsocas Papa syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...

Bartsocas-Papas Syndrome: Unusual Findings in the First ...

Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared ...