Works matching DE "GENETIC disorder diagnosis"

Results: 2904

Yield of Hearing Loss Gene Panel and Audiometric Findings in a Retrospective Cohort of Children With Permanent Childhood Hearing Impairment.

Published in:

Clinical Otolaryngology, 2025, v. 50, n. 4, p. 780, doi. 10.1111/coa.14316

By:

Kulkarni, Alpana M.;
Majeithia, Henna;
Busby, Louise

Publication type:

Article

Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-03492-9

By:

Pantea, Cristina-Loredana;
Bataneant, Mihaela;
Zimbru, Cristian G.;
Dragulescu, Bogdan;
Munteanu, Catalin Vasile;
Chirita-Emandi, Adela

Publication type:

Article

Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.

Published in:

Neurology India, 2025, v. 73, n. 3, p. 513, doi. 10.4103/neurol-india.Neurol-India-D-24-00552

By:

Kumar, Hari Shankar;
Shah, Nidhi;
Shah, Parth;
Kotecha, Udhaya;
Mistri, Mehul;
Jarullah, Bushra

Publication type:

Article

Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort.

Published in:

Clinical & Experimental Nephrology, 2025, v. 29, n. 6, p. 788, doi. 10.1007/s10157-025-02629-4

By:

Tanaka, Yu;
Nagano, China;
Sakakibara, Nana;
Okada, Eri;
Aoyama, Shuhei;
Kimura, Yuka;
Inoki, Yuta;
Ichikawa, Yuta;
Ueda, Chika;
Kitakado, Hideaki;
Horinouchi, Tomoko;
Yamamura, Tomohiko;
Ishimori, Shingo;
Iijima, Kazumoto;
Nozu, Kandai;
Morisada, Naoya

Publication type:

Article

Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss.

Published in:

Archives of Iranian Medicine (AIM), 2025, v. 28, n. 5, p. 313, doi. 10.34172/aim.33542

By:

Najafabadi, Shima Zamanian;
Ghorbanoghli, Zeinab;
Ghaderi, Zhila;
Afroozan, Fariba;
Talea, Ali;
Ahangari, Fatemeh;
Makvand, Mina;
Najmabadi, Hossein;
Kariminejad, Ariana

Publication type:

Article

Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4843, doi. 10.3390/ijms26104843

By:

Sabau, Iulia Maria;
Bacos-Cosma, Iuliu Stefan;
Streata, Ioana;
Dragulescu, Bogdan;
Puiu, Maria;
Chirita-Emandi, Adela

Publication type:

Article

Friedreich ataxia--update on pathogenesis and possible therapies.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 1, doi. 10.1007/s10048-003-0170-z

By:

Voncken, Max;
Ioannou, Panos;
Delatycki, Martin B.

Publication type:

Article

Genetic testing in the European Union: does economic evaluation matter?

Published in:

European Journal of Health Economics, 2012, v. 13, n. 5, p. 651, doi. 10.1007/s10198-011-0319-x

By:

Antoñanzas, Fernando;
Rodríguez-Ibeas, R.;
Hutter, M.;
Lorente, R.;
Juárez, C.;
Pinillos, M.

Publication type:

Article

Familial Mediterranean Fever and psychiatric disorders: three case reports.

Published in:

2013

By:

Alici, Soner;
Babalioglu, Merve;
Maner, Ayse Fulya;
Ulukaya, Sema;
Cetinkaya, Ozlem Girit;
Ersen, Huriye

Publication type:

Abstract

A Pediatric Genetic Disorder Diagnosed in Adulthood.

Published in:

PLoS Medicine, 2006, v. 3, n. 1, p. e15, doi. 10.1371/journal.pmed.0030015

By:

Church, Joseph A.

Publication type:

Article

Multifocal Pediatric Tumoral Calcinosis: a Diagnostic Conundrum in a 4-Year-Old Child.

Published in:

Indian Journal of Surgery, 2024, v. 86, n. 1, p. 217, doi. 10.1007/s12262-023-03829-6

By:

Osama, Md Ali;
Chatterjee, Priti;
Sahoo, Sarada Prasad;
Mendiratta, Vibhu

Publication type:

Article

Laparoscopic Repair of Larrey (Left-Sided Morgagni) Hernia: Technical Considerations.

Published in:

Indian Journal of Surgery, 2018, v. 80, n. 4, p. 395, doi. 10.1007/s12262-018-1774-8

By:

Rajkumar, J. S.;
Tadimari, Hema;
Akbar, S.;
Rajkumar, Anirudh;
Kothari, Aanchal;
Sai Vishnupriya, V.;
Rajkumar, Shreya;
Aluru, Jayakrishna Reddy

Publication type:

Article

Morgagni’s Hernia: Analysis of 21 Patients with Our Clinical Experience in Diagnosis and Treatment.

Published in:

Indian Journal of Surgery, 2018, v. 80, n. 3, p. 239, doi. 10.1007/s12262-016-1580-0

By:

Arikan, Soykan;
Dogan, Mehmet Baki;
Kocakusak, Ahmet;
Ersoz, Feyzullah;
Sari, Serkan;
Duzkoylu, Yigit;
Nayci, Ali Emre;
Ozoran, Emre;
Tozan, Emine;
Dubus, Turkan

Publication type:

Article

Current Concepts in the Management of Congenital Diaphragmatic Hernia in Infants.

Published in:

Indian Journal of Surgery, 2015, v. 77, n. 4, p. 313, doi. 10.1007/s12262-015-1286-8

By:

Kumar, Vasanth

Publication type:

Article

Amniotic Band Syndrome.

Published in:

Indian Journal of Surgery, 2013, v. 75, n. 5, p. 401, doi. 10.1007/s12262-012-0468-x

By:

Shetty, Prathvi;
Menezes, Leo;
Tauro, Leo;
Diddigi, Kumar

Publication type:

Article

Laparoscopic Repair of Right Sided Bochdalek Hernia - A Case Report.

Published in:

2013

By:

Patle, Nirmal;
Tantia, Om;
Prasad, Parmanand;
Das, Prakhar;
Khanna, Shashi

Publication type:

Report

Congenital Right Bochdalek Hernia Presenting as Emergency in Old Age: A Case Report.

Published in:

2013

By:

Shenoy K, Rajgopal;
Johri, Goonj

Publication type:

Report

Rare Case Report - Congenital Diaphragmatic Hernia Presentation in Adult.

Published in:

2013

By:

Gujar, Ajay;
Rodrigues, Dale;
Patil, Kundan;
Tambe, Uday;
Sinha, Shubha;
Bhushan, Abhishek

Publication type:

Report

Diverticulocystoplasty with Bilateral Ureteric Reimplantation: Management in a Rare Case of Combined Congenital Large Paraureteric Diverticulum with Bilateral Obstructive Megaureter.

Published in:

2013

By:

Nayyar, Rishi;
Khattar, Nikhil;
Sood, Rajeev;
Kumar, Manoj

Publication type:

Report

Novel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family.

Published in:

2022

By:

Yuan, Jing;
Zhanga, Canling;
Qiao, Shan;
Wang, Aihua;
Zhang, Shanchao

Publication type:

journal article

Two siblings with atypical pantothenate-kinase-associated neurodegeneration.

Published in:

2019

By:

K, Gunasekaran;
S, Sivakumar;
K, Thiruvarutchelvan

Publication type:

Case Study

Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU).

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 3, p. 1015, doi. 10.1007/s10815-024-03358-5

By:

Grati, Francesca Romana;
Capalbo, Antonio;
Gabbiato, Ilaria;
Battaglia, Paola;
Pittalis, Maria Carla;
Bizzoco, Domenico;
Cardarelli, Laura;
Gatta, Valentina;
Lonardo, Fortunato;
Novelli, Antonio;
Bernardini, Laura;
Zuccarello, Daniela

Publication type:

Article

First case report of a successful delivery of a healthy boy by preimplantation genetic testing for Beckwith-Wiedemann syndrome.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 10, p. 2771, doi. 10.1007/s10815-024-03186-7

By:

Banti, Maria;
Kafetzis, Dimitrios

Publication type:

Article

Evaluation of non-invasive gene detection in preimplantation embryos: a systematic review and meta-analysis.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 6, p. 1243, doi. 10.1007/s10815-023-02760-9

By:

Huang, Bingbing;
Luo, Xiangmin;
Wu, Ruiyun;
Qiu, Lingling;
Lin, Shu;
Huang, Xiaolan;
Wu, Jinxiang

Publication type:

Article

Blocker displacement amplification-based genetic diagnosis for autosomal dominant polycystic kidney disease and the clinical outcomes of preimplantation genetic testing.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 4, p. 783, doi. 10.1007/s10815-023-02722-1

By:

Lin, Tingting;
Luo, Junfeng;
Yu, Haibing;
Dong, Bohao;
Zhang, Qi;
Zhang, Wei;
Chen, Ke;
Xiang, Yezhou;
Liu, Dongyun;
Huang, Guoning

Publication type:

Article

A novel homozygous missense mutation in AK7 causes multiple morphological anomalies of the flagella and oligoasthenoteratozoospermia.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 1, p. 261, doi. 10.1007/s10815-021-02363-2

By:

Xiang, Mingfei;
Wang, Yu;
Xu, Weilong;
Zheng, Na;
Deng, Hongshi;
Zhang, Jingjing;
Duan, Zongliu;
Zha, Xiaomin;
Zhang, Wenjun;
Song, Gaojie;
Shi, Xuanming;
Wang, Fengsong;
Cao, Yunxia;
Zhu, Fuxi

Publication type:

Article

Morphokinetic analysis of cleavage stage embryos and its relationship to aneuploidy in a retrospective time-lapse imaging study.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 1, p. 69, doi. 10.1007/s10815-014-0372-3

By:

Chawla, Monika;
Fakih, Michael;
Shunnar, Amal;
Bayram, Asina;
Hellani, Ali;
Perumal, Vanamail;
Divakaran, Jayprakash;
Budak, Erdal

Publication type:

Article

Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article.

Published in:

2011

By:

Bingol, Banu;
Tasdemir, Seval;
Gunenc, Ziya;
Abike, Faruk;
Esenkaya, Semra;
Tavukcuoglu, Safak;
Berkil, Hakan

Publication type:

Report

Cryopreservation of whole ovaries with vascular pedicles: vitrification or conventional freezing?

Published in:

Journal of Assisted Reproduction & Genetics, 2011, v. 28, n. 5, p. 445, doi. 10.1007/s10815-011-9539-3

By:

Zhang, Jian-Min;
Sheng, Yan;
Cao, Yong-Zhi;
Wang, Hong-Yan;
Chen, Zi-Jiang

Publication type:

Article

Primary male infertility in Izmir/Turkey: a cytogenetic and molecular study of 187 infertile Turkish patients.

Published in:

Journal of Assisted Reproduction & Genetics, 2011, v. 28, n. 5, p. 419, doi. 10.1007/s10815-011-9542-8

By:

Akin, Haluk;
Onay, Huseyin;
Turker, Emre;
Ozkinay, Ferda

Publication type:

Article

Nanosurgical interventions in the practice of human ARTs.

Published in:

2011

By:

Albertini, David

Publication type:

Editorial

Quantitative decision-making in preimplantation genetic (aneuploidy) screening (PGS).

Published in:

Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 9/10, p. 487, doi. 10.1007/s10815-009-9352-4

By:

Summers, Michael C.;
Foland, Andrew D.

Publication type:

Article

From the Editor.

Published in:

2009

By:

Albertini, David F.

Publication type:

Editorial

Preconceptional diagnosis for Robertsonian translocation as an alternative to preimplantation genetic diagnosis in two situations: a pilot study.

Published in:

Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 2/3, p. 113, doi. 10.1007/s10815-009-9293-y

By:

Gomes, D. Molina;
Hammoud, I.;
Bailly, M.;
Bergere, M.;
Wainer, R.;
Selva, J.;
Vialard, F.

Publication type:

Article

Predictive value of preimplantation genetic diagnosis for aneuploidy screening in repeated IVF-ET cycles among women with recurrent implantation failure.

Published in:

Journal of Assisted Reproduction & Genetics, 2008, v. 25, n. 2/3, p. 103, doi. 10.1007/s10815-008-9200-y

By:

Pagidas, K.;
Ying, Y.;
Keefe, D.

Publication type:

Article

Birth after transfer of frozen-thawed vitrified biopsied blastocysts.

Published in:

Journal of Assisted Reproduction & Genetics, 2007, v. 24, n. 4, p. 147, doi. 10.1007/s10815-006-9094-5

By:

Parriego, M.;
Solé, M.;
Aurell, R.;
Barri, P. N.;
Veiga, A.

Publication type:

Article

Discordance among blastomeres renders preimplantation genetic diagnosis for aneuploidy ineffective.

Published in:

Journal of Assisted Reproduction & Genetics, 2007, v. 24, n. 1, p. 37, doi. 10.1007/s10815-006-9073-x

By:

Coulam, C. B.;
Jeyendran, R. S.;
Fiddler, M.;
Pergament, E.

Publication type:

Article

The "Spanning Protocol": A new DNA extraction method for efficient single-cell genetic diagnosis.

Published in:

Journal of Assisted Reproduction & Genetics, 2005, v. 22, n. 11/12, p. 407, doi. 10.1007/s10815-005-7482-x

By:

Shinichi Tsuchiya;
Kou Sueoka;
Noriko Matsuda;
Reiko Tanigaki;
Hironori Asada;
Tsuyoshi Hashiba;
Shinya Kato;
Yasunori Yoshimura

Publication type:

Article

spectrum.

Published in:: Government Technology, 2015, v. 28, n. 4, p. 53
Publication type:: Article

California Screening.

Published in:

Government Technology, 2007, v. 20, n. 2, p. 44

By:

Douglas, Merrill

Publication type:

Article

Factors affecting mothers’ knowledge of genetic screening.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2004, v. 44, n. 1, p. 30, doi. 10.1111/j.1479-828X.2004.00171.x

By:

Suriadi, Christine;
Jovanovska, Mirjana;
Quinlivan, Julie A.

Publication type:

Article

Factoring Them In: Shining the Spotlight on Women and Girls with Congenital Bleeding Disorders.

Published in:

Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 608, doi. 10.1089/jwh.2019.8255

By:

Carpenter, Shannon L.

Publication type:

Article

A Cross-Sectional Study of Women and Girls with Congenital Bleeding Disorders: The American Thrombosis and Hemostasis Network Cohort.

Published in:

Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 670, doi. 10.1089/jwh.2019.7930

By:

Haley, Kristina M.;
Sidonio Jr., Robert F.;
Abraham, Shirley;
Dunlei Cheng;
Recht, Michael;
Kulkarni, Roshni

Publication type:

Article

Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.

Published in:

Chromosome Research, 2024, v. 32, n. 3, p. 1, doi. 10.1007/s10577-024-09754-y

By:

Jiang, Xiali;
Liang, Bin;
Chen, Bilian;
Wu, Xiaoqing;
Wang, Yan;
Lin, Na;
Huang, Hailong;
Xu, Liangpu

Publication type:

Article

12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.

Published in:

Chromosome Research, 2014, v. 22, n. 4, p. 453, doi. 10.1007/s10577-014-9431-y

By:

Izumi, Kosuke;
Zhang, Zhe;
Kaur, Maninder;
Krantz, Ian

Publication type:

Article

TTR Val142Ile: Bystander Genetic Finding or Diagnosis? Response to Editor.

Published in:

Pediatric Cardiology, 2023, v. 44, n. 2, p. 501, doi. 10.1007/s00246-022-03086-6

By:

Torpoco Rivera, Diana Milagros;
Williams, Celeste T.;
Karpawich, Peter P.

Publication type:

Article

TTR Val142Ile: Bystander Genetic Finding or Diagnosis?

Published in:

Pediatric Cardiology, 2023, v. 44, n. 2, p. 499, doi. 10.1007/s00246-022-03085-7

By:

Kontorovich, Amy R.;
Abul-Husn, Noura S.

Publication type:

Article

Rotational Position of the Aortic Root is Associated with Increased Aortic Dimensions in Marfan and Loeys–Dietz Syndrome.

Published in:

Pediatric Cardiology, 2021, v. 42, n. 5, p. 1157, doi. 10.1007/s00246-021-02594-1

By:

Powell, Shannon K.;
Almeneisi, Hassan;
Alsaied, Tarek;
Shikany, Amy;
Riley, Laura;
Miller, Erin;
Belonis, Alyce;
Weaver, Kathryn Nicole;
Brown, Nicole;
Mori, Shumpei;
Tretter, Justin T.

Publication type:

Article

Genetic diagnosis of acute aortic dissection in South China Han population using next-generation sequencing.

Published in:

International Journal of Legal Medicine, 2018, v. 132, n. 5, p. 1273, doi. 10.1007/s00414-018-1890-9

By:

Huang, Lei;
Wu, Qiuping;
Yin, Kun;
Quan, Li;
Zhao, Qianhao;
Cheng, Jianding;
Zheng, Jinxiang;
Guo, Jian;
Wang, Lin;
Zhang, Tongda

Publication type:

Article

A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.

Published in:

Amino Acids, 2012, v. 43, n. 2, p. 993, doi. 10.1007/s00726-011-1146-1

By:

Wada, Takahito;
Shimbo, Hiroko;
Osaka, Hitoshi

Publication type:

Article