Search Results

Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history.

• Authors : De Houwer JFH; Department of Neurology and Alzheimer Centre, Erasmus MC University Medical Centre (Erasmus MC), Dr. Molenwaterplein 40, 3015 CE, Rotterdam, The Netherlands.; Dopper EGP

Subjects: Progranulins*/Progranulins*/Progranulins*/genetics ; Genetic Testing* ; DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics

• Source: Journal of neurology [J Neurol] 2024 Dec 16; Vol. 272 (1), pp. 64. Date of Electronic Publication: 2024 Dec 16.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459

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A Rapid and Scalable Multiplex PCR-Based Next-Generation Amplicon Sequencing Method for Familial Hypercholesterolemia Genetic Screening.

• Authors : Imran M; CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India.

Subjects: Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/diagnosis ; Multiplex Polymerase Chain Reaction*/Multiplex Polymerase Chain Reaction*/Multiplex Polymerase Chain Reaction*/methods

• Source: The journal of applied laboratory medicine [J Appl Lab Med] 2024 Nov 04; Vol. 9 (6), pp. 871-885.Publisher: Oxford University Press Country of Publication: England NLM ID: 101693884 Publication Model: Print Cited Medium: Print ISSN: 2576-9456

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Experiences across a genetic screening and testing programme pathway: a qualitative study of mammogram patient perspectives.

• Authors : Devine C; Center for Outcomes Research and Education (CORE), Providence Health and Services Oregon, Portland, Oregon, USA.; Emery KR

Subjects: Genetic Testing* ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/diagnosis

• Source: BMJ open [BMJ Open] 2024 Oct 23; Vol. 14 (10), pp. e089884. Date of Electronic Publication: 2024 Oct 23.Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN:

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Diagnostic yield of prenatal exome sequencing in the genetic screening of fetuses with brain anomalies detected by MRI and ultrasonography: A systematic review and meta-analysis.

• Authors : Moradi B; Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences, Tehran, Iran.; Department of Radiology, Yas Complex Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Subjects: Brain*/Brain*/Brain*/diagnostic imaging ; Brain*/Brain*/Brain*/abnormalities ; Exome Sequencing*

• Source: BJOG : an international journal of obstetrics and gynaecology [BJOG] 2024 Oct; Vol. 131 (11), pp. 1435-1443. Date of Electronic Publication: 2023 Nov 06.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 100935741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Women's preferences for genetic screening in routine care: A qualitative study.

• Authors : Madeo AC; Huntsman Cancer Institute, University of Utah Health, Salt Lake City, UT, USA; Department of Population Health Sciences, University of Utah, Salt Lake City, UT, USA. Electronic address: .

Subjects: Genetic Testing* ; Qualitative Research* ; Patient Preference*

• Source: Patient education and counseling [Patient Educ Couns] 2025 Jan; Vol. 130, pp. 108439. Date of Electronic Publication: 2024 Sep 15.Publisher: Elsevier Country of Publication: Ireland NLM ID: 8406280 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5134

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Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program.

• Authors : Ruan Y; Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Deafness*/Deafness*/Deafness*/genetics ; Deafness*/Deafness*/Deafness*/diagnosis

• Source: Bioscience trends [Biosci Trends] 2024 Sep 16; Vol. 18 (4), pp. 303-314. Date of Electronic Publication: 2024 Aug 25.Publisher: International Research and Cooperation Association for Bio & Socio-Sciences Advancement Country of Publication: Japan NLM ID: 101502754 Publication

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Neonatal Filaggrin Genetic Screening and Counseling to Prevent Atopic Dermatitis in High-Risk Infants.

• Authors : Chen HY; From the Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.; Program for Precision Health and Intelligent Medicine, Graduate School of Advanced Technology, National Taiwan University, Taipei, Taiwan.

Subjects: Filaggrin Proteins* ; Dermatitis, Atopic*/Dermatitis, Atopic*/Dermatitis, Atopic*/genetics ; Dermatitis, Atopic*/Dermatitis, Atopic*/Dermatitis, Atopic*/prevention & control

• Source: Dermatitis : contact, atopic, occupational, drug [Dermatitis] 2024 Sep-Oct; Vol. 35 (5), pp. 483-488. Date of Electronic Publication: 2024 Apr 02.Publisher: Mary Ann Liebert Country of Publication: United States NLM ID: 101207335 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Eugenics and genetic screening in television medical dramas.

• Authors : Eilmus A; Division of Medical Ethics, New York University Grossman School of Medicine, New York, New York, USA.; Center for Genetic Privacy and Identity in Community Settings, Vanderbilt University, Nashville, Tennessee, USA.

Subjects: Eugenics* ; Television*/Television*/Television*/ethics ; Genetic Testing*/Genetic Testing*/Genetic Testing*/ethics

• Source: Medical humanities [Med Humanit] 2024 Aug 14; Vol. 50 (2), pp. 408-416. Date of Electronic Publication: 2024 Aug 14.Publisher: BMJ Pub. Group Country of Publication: United States NLM ID: 100959585 Publication Model: Electronic Cited Medium: Internet ISSN:

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Every baby deserves access to genetic screening.

Subjects: Genetic Testing*; Humans ; Infant, Newborn

• Source: Nature medicine [Nat Med] 2024 Aug; Vol. 30 (8), pp. 2095-2096.Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN:

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Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population.

• Authors : Hu X; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China; Henan Key Laboratory of Inherited Metabolic Diseases, Pediatric Research Institute of Zhengzhou Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, China.

Subjects: Genetic Testing* ; Hermanski-Pudlak Syndrome*/Hermanski-Pudlak Syndrome*/Hermanski-Pudlak Syndrome*/genetics ; Hermanski-Pudlak Syndrome*/Hermanski-Pudlak Syndrome*/Hermanski-Pudlak Syndrome*/epidemiology

• Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Jul 15; Vol. 561, pp. 119813. Date of Electronic Publication: 2024 Jun 12.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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