Works matching Genetic disorder diagnosis

Results: 3549

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

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

Published in:

2011

By:

JARZEMBOWSKI, JASON

Publication type:

Book Review

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

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

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

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

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

Transcriptional Biomarkers in the Diagnosis of Genetic Disorders: Opportunities, Challenges, and Prospects for Application.

Published in:

Biochemistry (00062979), 2025, v. 90, n. 6, p. 683, doi. 10.1134/S0006297925600383

By:

Nefedova, Lidia N.;
Krasnova, Tatiana N.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Problems of prenatal testing.

Published in:

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

By:

Beardsley, Tim

Publication type:

Article

Investigating knowledge and attitudes toward genetic testing and counseling among palestinians.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-024-84733-1

By:

Ghanim, Mustafa;
Rabayaa, Maha;
Alqub, Malik;
Hanani, Ahmad;
Abuawad, Mohammad;
Rahhal, Belal;
Qadous, Shurouq;
Barahmeh, Myassar;
Atout, Sameeha;
Al-Lahham, Saad;
Aref, Aseel;
Dwikat, Majdi;
Alkhaldi, Samar;
Makhamreh, Ahmad

Publication type:

Article

A systematic review evaluating non-invasive techniques to diagnose genetic disorders in a human fetus and the ethical implications of their use.

Published in:

Australian Medical Student Journal, 2013, v. 4, n. 2, p. 16

By:

Irwin, Matthew

Publication type:

Article

A systematic review evaluating non-invasive techniques to diagnose genetic disorders in a human fetus and the ethical implications of their use.

Published in:

Australian Medical Student Journal, 2013, v. 4, n. 2, p. 16

By:

Irwin, Matthew

Publication type:

Article

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.

Published in:

Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.602979

By:

Charif, Majida;
Bris, Céline;
Goudenège, David;
Desquiret-Dumas, Valérie;
Colin, Estelle;
Ziegler, Alban;
Procaccio, Vincent;
Reynier, Pascal;
Bonneau, Dominique;
Lenaers, Guy;
Amati-Bonneau, Patrizia

Publication type:

Article

Functional study of SCCD pathogenic gene UBIAD1.

Published in:

Molecular Medicine Reports, 2021, v. 24, n. 4, p. N.PAG, doi. 10.3892/mmr.2021.12345

By:

Xie, Jumin;
Li, Lingxing

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

Prediction and in silico validation of MYH7 gene missense variants in the Iranian population: a bioinformatics analysis based on Iranome database.

Published in:

Egyptian Journal of Medical Human Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s43042-020-00058-4

By:

Shahbazi, Shirin

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

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

Genetic Hair Disorders: A Review.

Published in:

Dermatology & Therapy, 2019, v. 9, n. 3, p. 421, doi. 10.1007/s13555-019-0313-2

By:

Ahmed, Azhar;
Almohanna, Hind;
Griggs, Jacob;
Tosti, Antonella

Publication type:

Article

A Japanese Patient with Gaucher Disease Treated with the Oral Drug Eliglustat as Substrate Reducing Therapy.

Published in:

2021

By:

Komada, Naoto;
Fujiwara, Toshinari;
Yoshizumi, Hideyuki;
Ida, Hiroyuki;
Shimoda, Kazuya

Publication type:

Case Study

Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 620, doi. 10.1111/cge.14694

By:

Garg, Neha;
Lakshmi, Pragna;
Singh, Suzena M.;
Kulshreshta, Samarth;
Ranganath, Prajnya;
Moirangthem, Amita;
Dalal, Ashwin;
Gahlot, Aakanksha;
Puri, Ratna Dua

Publication type:

Article

Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis.

Published in:

Clinical Genetics, 2024, v. 106, n. 1, p. 95, doi. 10.1111/cge.14522

By:

Parobek, Christian M.;
Zemet, Roni;
Shanahan, Matthew A.;
Burnett, Brian A.;
Mizerik, Elizabeth;
Rosenfeld, Jill A.;
Vossaert, Liesbeth;
Clark, Steven L.;
Hunter, Jill V.;
Lalani, Seema R.

Publication type:

Article

DNA methylation signature classification of rare disorders using publicly available methylation data.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 688, doi. 10.1111/cge.14304

By:

Hildonen, Mathis;
Ferilli, Marco;
Hjortshøj, Tina Duelund;
Dunø, Morten;
Risom, Lotte;
Bak, Mads;
Ek, Jakob;
Møller, Rikke S.;
Ciolfi, Andrea;
Tartaglia, Marco;
Tümer, Zeynep

Publication type:

Article

A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome‐related disorders.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 908, doi. 10.1111/cge.13728

By:

Vogt, Julie;
Al‐Saedi, Atif;
Willis, Tracey;
Male, Alison;
McKie, Arthur;
Kiely, Nigel;
Maher, Eamonn R.

Publication type:

Article

Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 35, doi. 10.1111/j.1399-0004.2012.01879.x

By:

Arboleda, VA;
Lee, H;
Sánchez, FJ;
Délot, EC;
Sandberg, DE;
Grody, WW;
Nelson, SF;
Vilain, E

Publication type:

Article

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

Published in:

PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0240795

By:

França, Monica M.;
Funari, Mariana F. A.;
Lerario, Antonio M.;
Santos, Mariza G.;
Nishi, Mirian Y.;
Domenice, Sorahia;
Moraes, Daniela R.;
Costalonga, Everlayny F.;
Maciel, Gustavo A. R.;
Maciel-Guerra, Andrea T.;
Guerra-Junior, Gil;
Mendonca, Berenice B.

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

An algorithm to identify patients aged 0–3 with rare genetic disorders.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03188-9

By:

Webb, Bryn D.;
Lau, Lisa Y.;
Tsevdos, Despina;
Shewcraft, Ryan A.;
Corrigan, David;
Shi, Lisong;
Lee, Seungwoo;
Tyler, Jonathan;
Li, Shilong;
Wang, Zichen;
Stolovitzky, Gustavo;
Edelmann, Lisa;
Chen, Rong;
Schadt, Eric E.;
Li, Li

Publication type:

Article

Preimplantation diagnosis of genetic diseases.

Published in:

Journal of Postgraduate Medicine, 2010, v. 56, n. 4, p. 317

By:

Adiga, S. K.;
Kalthur, G.;
Kumar, P.;
Girisha, K. M.

Publication type:

Article