Works matching Genetic disorder diagnosis

Results: 3493

Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders.

Published in:

2021

By:

Legati, Andrea;
Giacopuzzi, Edoardo;
Spinazzi, Marco;
Lek, Monkol

Publication type:

Editorial

Analysis of Attitude of Public Towards Prenatal Screening for Diagnosis of Genetic Disorders.

Published in:

Egyptian Academic Journal of Biological Sciences. B, Zoology, 2023, v. 15, n. 1, p. 287, doi. 10.21608/EAJBSZ.2023.306575

By:

Shoba, S. Prakash;
Anusha, V. Princy;
Varshaa, T. B.;
Anitha, C.

Publication type:

Article

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.

Published in:

Acta Neuropathologica, 2013, v. 125, n. 2, p. 173, doi. 10.1007/s00401-012-1072-7

By:

Vasli, Nasim;
Laporte, Jocelyn

Publication type:

Article

Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment.

Published in:

2011

By:

JARZEMBOWSKI, JASON

Publication type:

Book Review

Preimplantation genetic diagnosis to prevent genetic disorders in children.

Published in:

British Journal of Nursing, 2005, v. 14, n. 2, p. 64, doi. 10.12968/bjon.2005.14.2.17433

By:

Lashwood, Alison

Publication type:

Article

High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.

Published in:

Canadian Journal of Psychiatry, 2020, v. 65, n. 12, p. 865, doi. 10.1177/0706743720931234

By:

So, Joyce;
Sriretnakumar, Venuja;
Suddaby, Jessica;
Barsanti-Innes, Brianna;
Faghfoury, Hanna;
Gofine, Timothy

Publication type:

Article

G3DMS: Design and Implementation of a Data Management System for the Diagnosis of Genetic Disorders.

Published in:

Healthcare (2227-9032), 2020, v. 8, n. 3, p. 196, doi. 10.3390/healthcare8030196

By:

Samra, Halima;
Li, Alice;
Soh, Ben

Publication type:

Article

Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.

Published in:

Tremor & Other Hyperkinetic Movements, 2022, v. 12, p. 1, doi. 10.5334/tohm.678

By:

MILLAR VERNETTI, PATRICIO;
RUIZ YANZI, MARÍA AGUSTINA;
ROSSI, MALCO;
MERELLO, MARCELO

Publication type:

Article

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00238-9

By:

Liu, Yanqiu;
Mao, Liangwei;
Huang, Hui;
Li, Wei;
Man, Jianfen;
Zhang, Wenqian;
Wang, Lina;
Li, Long;
Sun, Yan;
Zhai, Teng;
Guo, Xueqin;
Du, Lique;
Huang, Jin;
Li, Hao;
Wan, Yang;
Wei, Xiaoming

Publication type:

Article

유전성 질환에서 차세대 염기서열 분석의 임상적 활 용 및 가족 검사를 위한 제언.

Published in:

Journal of the Korean Medical Association / Taehan Uisa Hyophoe Chi, 2023, v. 66, n. 10, p. 613, doi. 10.5124/jkma.2023.66.10.613

By:

윤 지 훈;
김 만 진;
권 용 진;
채 종 희

Publication type:

Article

Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next—Generation Sequencing.

Published in:

Indian Pediatrics, 2020, v. 57, n. 6, p. 549, doi. 10.1007/s13312-020-1853-3

By:

Narayanan, Dhanya Lakshmi;
Girisha, Katta Mohan

Publication type:

Article

Genomics in nephrology: identifying informatics opportunities to improve diagnosis of genetic kidney disorders using a human-centered design approach.

Published in:

Journal of the American Medical Informatics Association, 2024, v. 31, n. 6, p. 1247, doi. 10.1093/jamia/ocae053

By:

Romagnoli, Katrina M;
Salvati, Zachary M;
Johnson, Darren K;
Ramey, Heather M;
Chang, Alexander R;
Williams, Marc S

Publication type:

Article

Spot Diagnosis of a Daedalian Genetic Disorder: Bardet-Biedl Syndrome.

Published in:

Journal of Clinical & Diagnostic Research, 2016, v. 10, n. 5, p. 1, doi. 10.7860/JCDR/2016/18321.7754

By:

CHHABRIA, BHARATH;
NAMPOOTHIRI, RAM;
SURI, VIKAS;
JAIN, SANJAY

Publication type:

Article

Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 513, doi. 10.1111/cge.14313

By:

Rezapour, Aziz;
Souresrafil, Aghdas;
Barzegar, Mohammad;
Sheikhy‐Chaman, Mohammadreza;
Tatarpour, Parvin

Publication type:

Article

Preimplantation genetic diagnosis of single gene disorders: outcome from over 200 cases.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-30

By:

J., Sánchez;
C., Gutiérrez;
D., Wells;
J., Fischer;
S., Tormasi;
S., Munné;
J., Cohen

Publication type:

Article

Health Professionals' Preferences for Next-Generation Sequencing in the Diagnosis of Suspected Genetic Disorders in the Paediatric Population.

Published in:

Journal of Personalized Medicine, 2025, v. 15, n. 1, p. 25, doi. 10.3390/jpm15010025

By:

Nurchis, Mario Cesare;
Altamura, Gerardo;
Raspolini, Gian Marco;
Capobianco, Enrico;
Salmasi, Luca;
Damiani, Gianfranco

Publication type:

Article

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1387598

By:

Chen Jiali;
Peng Huifang;
Jiang Yuqing;
Zeng Xiantao;
Jiang Hongwei

Publication type:

Article

Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis.

Published in:

Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01268-2

By:

Xiao, Hui;
Chen, Huiyao;
Chen, Xiang;
Lu, Yulan;
Wu, Bingbing;
Wang, Huijun;
Cao, Yun;
Hu, Liyuan;
Dong, Xinran;
Zhou, Wenhao;
Yang, Lin

Publication type:

Article

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10375, doi. 10.3390/ijms221910375

By:

Xiol, Clara;
Heredia, Maria;
Pascual-Alonso, Ainhoa;
Oyarzabal, Alfonso;
Armstrong, Judith

Publication type:

Article

Prenatal Genetic diagnosis in Neurological Disorders and its use in prevention of neurological illness; our experience.

Published in:

2007

By:

Iyer, R. S.;
Nair, S.;
Menon, M. G.

Publication type:

Abstract

Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.

Published in:

Human Genetics, 2022, v. 141, n. 7, p. 1269, doi. 10.1007/s00439-021-02358-0

By:

Mergnac, Jean-Philippe;
Wiedemann, Arnaud;
Chery, Céline;
Ravel, Jean-Marie;
Namour, Farès;
Guéant, Jean-Louis;
Feillet, François;
Oussalah, Abderrahim

Publication type:

Article

A Comprehensive Approach to Design, Selection and Optimization of Short Tandem Repeat Used in Preimplantation Genetic Diagnosis of Single Gene Disorders.

Published in:

Knowledge & Health / Dānish va Tandurustī, 2015, v. 10, n. 1, p. 31, doi. 10.1234/knh.v0i0.506

By:

Shayannia, Asghar;
Amanpour, Saeed;
Ghaffari, Saeed Reza

Publication type:

Article

Identification of the first homozygous 1‐bp deletion in <italic>GDF9</italic> gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 408, doi. 10.1111/cge.13156

By:

França, M. M.;
Funari, M. F. A.;
Nishi, M. Y.;
Narcizo, A. M.;
Domenice, S.;
Costa, E. M. F.;
Lerario, A. M.;
Mendonca, B. B.

Publication type:

Article

Genetic Diagnosis in a Cohort of Adult Patients with Inherited Metabolic Diseases: A Single-Center Experience.

Published in:

Biomolecules (2218-273X), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/biom12070920

By:

Lenzini, Livia;
Carraro, Gianni;
Avogaro, Angelo;
Vitturi, Nicola

Publication type:

Article

Advances in genetic diagnosis of neurological disorders.

Published in:

Acta Neurologica Scandinavica, 2014, v. 129, p. 20, doi. 10.1111/ane.12232

By:

Toft, M.

Publication type:

Article

diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype.

Published in:

Bioinformatics, 2023, v. 39, n. 9, p. 1, doi. 10.1093/bioinformatics/btad517

By:

Huang, Daoyi;
Jiang, Jianping;
Zhao, Tingting;
Wu, Shengnan;
Li, Pin;
Lyu, Yongfen;
Feng, Jincai;
Wei, Mingyue;
Zhu, Zhixing;
Gu, Jianlei;
Ren, Yongyong;
Yu, Guangjun;
Lu, Hui

Publication type:

Article

Value of a café‐au‐lait macules screening clinic: Experience from The Hospital for Sick Children in Toronto.

Published in:

Pediatric Dermatology, 2022, v. 39, n. 2, p. 205, doi. 10.1111/pde.14947

By:

Albaghdadi, Mohammed;
Berseneva, Maria;
Pennal, Alexandra;
Wan, Stephanie;
Matviychuk, Diana;
Shugar, Andrea;
Kannu, Peter;
Lara‐Corrales, Irene

Publication type:

Article

Familial and genetic association with neurodevelopmental disorders caused by a heterozygous variant in the SRRM2 gene.

Published in:

Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1240168

By:

Tao Zhang;
Lei Xu;
Hongdan Zhu;
Yuyi Ying;
Jinlong Ding;
Haigang Ding;
Xiaoliang Shi;
Yao He;
Xin Jin;
Guiyu Xia

Publication type:

Article

Problems of prenatal testing.

Published in:

Nature, 1985, p. 211, doi. 10.1038/314211a0

By:

Beardsley, Tim

Publication type:

Article

Implications of Genomic Newborn Screening for Infant Mortality.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 12, doi. 10.3390/ijns9010012

By:

Wojcik, Monica H.;
Gold, Nina B.

Publication type:

Article

How the diagnosis and the management of genetic renal phosphate leak impact the life of kidney stone formers?

Published in:

Urolithiasis, 2022, v. 50, n. 3, p. 319, doi. 10.1007/s00240-022-01316-3

By:

Tostivint, Isabelle N.;
Araman, Rita G.;
Castiglione, Vincent;
Alkouri, Rana;
Vargas-Poussou, Rosa;
Conort, Pierre;
Inaoui, Rachida;
Dousseaux, Marie-Paule;
Merazga, Sihem;
Lalmi, Ziad;
Chaoui, Imane;
Pieroni, Laurence;
Deray, Gilbert;
Isnard-Bagnis, Corinne;
Izzedine, Hassan

Publication type:

Article

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.

Published in:

Genes, 2023, v. 14, n. 1, p. 119, doi. 10.3390/genes14010119

By:

De Falco, Alessandro;
De Brasi, Daniele;
Della Monica, Matteo;
Cesario, Claudia;
Petrocchi, Stefano;
Novelli, Antonio;
D'Alterio, Giuseppe;
Iolascon, Achille;
Capasso, Mario;
Piscopo, Carmelo

Publication type:

Article

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Published in:

Genes, 2021, v. 12, n. 4, p. 560, doi. 10.3390/genes12040560

By:

Arteche-López, Ana;
Gómez Rodríguez, Maria José;
Sánchez Calvin, Maria Teresa;
Quesada-Espinosa, Juan Francisco;
Lezana Rosales, Jose Miguel;
Palma Milla, Carmen;
Gómez-Manjón, Irene;
Hidalgo Mayoral, Irene;
Pérez de la Fuente, Rubén;
Díaz de Bustamante, Arancha;
Darnaude, María Teresa;
Gil-Fournier, Belén;
Ramiro León, Soraya;
Ramos Gómez, Patricia;
Sierra Tomillo, Olalla;
Juárez Rufián, Alexandra;
Arranz Cano, Maria Isabel;
Villares Alonso, Rebeca;
Morales-Pérez, Pablo;
Segura-Tudela, Alejandro

Publication type:

Article

Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.

Published in:

Genes, 2020, v. 11, n. 6, p. 619, doi. 10.3390/genes11060619

By:

Bienvenu, Thierry;
Lopez, Maureen;
Girodon, Emmanuelle

Publication type:

Article

Genetic Counselling: the biomedical bridge between molecular diagnosis and precision treatment.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00297-7

By:

Banerjee, Emili;
Bhattacharjee, Koutilya

Publication type:

Article

Silver-Russell syndrome and Turner syndrome in a girl with short stature treated with growth hormone - case report.

Published in:

2022

By:

Wikiera, Beata;
Nocoń-Bohusz, Julita;
Noczyńska, Anna

Publication type:

Case Study

Gyermekkori genetikai rendellenességek diagnosztikája újgenerációs szekvenálással.

Published in:

Hungarian Medical Journal / Orvosi Hetilap, 2022, v. 163, n. 51, p. 2027, doi. 10.1556/650.2022.32688

By:

Menyhárt, Otília;
Győrffy, Balázs;
Szabó, András

Publication type:

Article

Clinical genome interpretation.

Published in:

Nature Genetics, 2014, v. 46, n. 5, p. 423, doi. 10.1038/ng.2975

By:

Bahcall, Orli

Publication type:

Article

Dealing with uncertainties: ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders.

Published in:

Human Reproduction Update, 2008, v. 14, n. 1, p. 83, doi. 10.1093/humupd/dmm037

By:

A.L. Bredenoord;
G. Pennings;
H.J. Smeets;
G. de Wert

Publication type:

Article

Successful bone marrow transplantation in a patient with Omenn syndrome, a rare variant of severe combined immunodeficiency syndrome: A case report.

Published in:

2024

By:

Khan, Ubaid;
Umer, Muhammad;
Muhammad, Aiman;
Iltaf, Arej;
Nashwan, Abdulqadir J.

Publication type:

Case Study

A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1331676

By:

Ouboukss, Fatima;
El Amrani, Zhour;
Bouchahta, Hicham;
Ratbi, Ilham;
Sbiti, Aziza;
Liehr, Thomas;
Sefiani, Abdelaziz;
Natiq, Abdelhafid

Publication type:

Article

The Narrative of a Patient with Leptin Receptor Deficiency: Personalized Medicine for a Rare Genetic Obesity Disorder.

Published in:

Obesity Facts: The European Journal of Obesity, 2023, v. 16, n. 5, p. 514, doi. 10.1159/000531529

By:

Welling, Mila S.;
Kleinendorst, Lotte;
van Haelst, Mieke M.;
van den Akker, Erica L.T.

Publication type:

Article

Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient.

Published in:

2022

By:

Verhoeven, Willem;
Zuijdam, José;
Scheick, Anneke;
van Nieuwenhuijsen, Frederiek;
Zwemer, Anne-Suus;
Pfundt, Rolph;
Egger, Jos

Publication type:

Case Study

ADHD in Patients With Bipolar Disorder: Genetics, Diagnosis, and Treatment.

Published in:

Psychiatric Times, 2021, v. 38, n. 1, p. 25

By:

Osser, David N.

Publication type:

Article

A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00920-3

By:

Chen, Jing;
Xia, Zhongmin;
Zhou, Yulin;
Ma, Xiaomin;
Wang, Xudong;
Guo, Qiwei

Publication type:

Article

Asmenų su intelektine negalia genetinio ištyrimo gairės.

Published in:

Neurologijos Seminarai, 2012, v. 16, n. 4, p. 283

By:

Preikšaitienė, E.;
Kasnauskienė, J.;
Utkus, A.;
Kučinskas, V.

Publication type:

Article

Hope for genetic test for autism.

Published in:

Chemistry & Industry, 2010, n. 12, p. 9

By:

Dorey, Emma

Publication type:

Article

A novel two-staged deep learning based workflow for analyzable metaphase detection.

Published in:

Multimedia Tools & Applications, 2024, v. 83, n. 17, p. 52305, doi. 10.1007/s11042-023-17509-w

By:

Turkmen, H. Irem

Publication type:

Article

Yield of genetic evaluation in non-syndromic pediatric moyamoya patients.

Published in:

Child's Nervous System, 2024, v. 40, n. 3, p. 801, doi. 10.1007/s00381-023-06167-w

By:

Slingerland, Anna L.;
Keusch, Dylan S.;
Lehman, Laura L.;
Smith, Edward R.;
Srivastava, Siddharth;
See, Alfred P.

Publication type:

Article

Optimal timing for blastomere biopsy of 8-cell embryos for preimplantation genetic diagnosis.

Published in:

2018

By:

Kalma, Y.;
Bar-El, L.;
Asaf-Tisser, S.;
Malcov, M.;
Reches, A.;
Hasson, J.;
Amir, H.;
Azem, F.;
Ben-Yosef, D.

Publication type:

journal article