Profile of BRAF V600E, BRAF K601E, NRAS, HRAS, and KRAS Mutational Status, and Clinicopathological Characteristics of Papillary Thyroid Carcinoma in Indonesian National Referral Hospital [0.03%]
印度尼西亚国家级转诊医院乳头状甲状腺癌BRAF V600E、BRAF K601E、NRAS、HRAS和KRAS突变状态及临床病理特征分析
Agnes Stephanie Harahap,Imam Subekti,Sonar Soni Panigoro et al.
Agnes Stephanie Harahap et al.
Introduction: BRAFV600E and RAS mutations are the most common gene mutations in papillary thyroid carcinoma (PTC) that may be correlated with its biological behavior. There are still limited data about BRAFV600E and RAS m...
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing [0.03%]
prenatal exome sequencing的产前外显子组测序孕前和产后遗传咨询的挑战与实用解决方案
Karin E M Diderich,Jasmijn E Klapwijk,Vyne van der Schoot et al.
Karin E M Diderich et al.
The yield of genetic prenatal diagnosis has been notably improved by introducing whole genome chromosomal microarray (CMA) and prenatal exome sequencing (pES). However, together with increased numbers of diagnoses made, the need to manage c...
A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report [0.03%]
年轻乳腺癌患者新的BRCA1基因脱 novo突变一例报告
Amina Scherz,Susanna Stoll,Benno Rothlisberger et al.
Amina Scherz et al.
Background: BRCA1 and BRCA2 genes represent the most investigated breast and ovarian cancer predisposition genes. Ten cases of pathogenic de novo BRCA1 variations and six cases of pathogenic de novo BRCA2 variation have b...
Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache [0.03%]
Sturge-Weber 综合征：病理生理、遗传学、临床表现和当前治疗的综述
Luis Fernando Sánchez-Espino,Marta Ivars,Javier Antoñanzas et al.
Luis Fernando Sánchez-Espino et al.
Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma, and neurological manifestations including leptomeningeal angiomatosis an...
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas [0.03%]
哥伦比亚MUTYH基因 germline突变患者非结直肠癌的发病特征研究
Lisa Ximena Rodriguez-Rojas,Estephania Candelo,Harry Pachajoa et al.
Lisa Ximena Rodriguez-Rojas et al.
Background: Protein MUTYH, encoded by the gene MUTYH, is an important mismatch repair enzyme in the base-excision repair pathway of DNA repair. When genetically altered, different neoplastic conditions can arise. One of t...
Van K Ma,Rong Mao,Jessica N Toth et al.
Van K Ma et al.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic imprinting disorders resulting from absent or reduced expression of paternal or maternal genes in chromosome 15q11q13 region, respectively. The most common etiology is delet...
Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives [0.03%]
遗传性蔗糖-isomaltase功能丧失：机制、影响及未来展望
Ninna Karsbæk Senftleber,Stina Ramne,Ida Moltke et al.
Ninna Karsbæk Senftleber et al.
Genetic variants causing loss of sucrase-isomaltase (SI) function result in malabsorption of sucrose and starch components and the condition congenital sucrase-isomaltase deficiency (CSID). The identified genetic variants causing CSID are v...
Divyani Garg,Shekeeb Mohammad,Anju Shukla et al.
Divyani Garg et al.
Episodic or paroxysmal movement disorders (PxMD) are conditions, which occur episodically, are transient, usually have normal interictal periods, and are characterized by hyperkinetic disorders, including ataxia, chorea, dystonia, and balli...
Donor Safety, Discrepancies Between Practice and Theory: Analysis of the Polish Supreme Audit Office's Report [0.03%]
捐赠人安全问题：理论与实践的差异——波兰审计总局报告分析
Rafał Patryn,Anna Zagaja,Mariola Drozd
Rafał Patryn
The introduction and development of genetic testing has caused the emergence of numerous dilemmas, which pertain to the performed tests, their results, and the influence they have on an individual person. To minimize potential doubts, it is...
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations [0.03%]
巴西罕见病研究中心注册的雷尔氏综合症患者队列：一种新颖的LZTR1家族性变异和反复出现的突变
Natana Chaves Rabelo,Maria Eduarda Gomes,Isabelle de Oliveira Moraes et al.
Natana Chaves Rabelo et al.
Purpose: Noonan syndrome and related disorders are genetic conditions affecting 1:1000-2000 individuals. Variants causing hyperactivation of the RAS/MAPK pathway lead to phenotypic overlap between syndromes, in addition t...