Works matching DE "GENETIC disorder diagnosis"

Results: 2924

Are we ACE-ing the early treatment of Alport syndrome?

Published in:

2025

By:

Williamson, Samantha J.;
Liebau, Max;
Lennon, R.Rachel

Publication type:

Letter

Psychosocial and Behavioral Impact of Genetic Counseling and Testing.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 97

By:

Peshkin, Beth N.;
Vadaparampil, Susan Thomas;
Miree, Cheryl A.;
Wilson, Crystal;
Jacobsen, Paul. B.

Publication type:

Article

Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease.

Published in:

Journal of Parkinson's Disease, 2019, v. 9, n. 1, p. 203, doi. 10.3233/JPD-171292

By:

Cali, Francesco;
Cantone, Mariagiovanna;
Cosentino, Filomena Irene Ilaria;
Lanza, Giuseppe;
Ruggeri, Giuseppa;
Chiavetta, Valeria;
Salluzzo, Roberto;
Ragalmuto, Alda;
Vinci, Mirella;
Ferri, Raffaele

Publication type:

Article

Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2025, v. 100, n. 1, p. 86, doi. 10.5114/polp.2025.149052

By:

Ręka, Gabriela;
Górecki, Mateusz;
Wojciechowska, Katarzyna;
Lejman, Monika

Publication type:

Article

The role of genetic testing in adult patients with unexplained epilepsy.

Published in:

Epileptic Disorders, 2024, v. 26, n. 6, p. 814, doi. 10.1002/epd2.20286

By:

Chung, Chi‐Ting;
Lee, Ni‐Chung;
Lin, I‐Ting;
Chen, Pin‐Yu;
Jao, Tun

Publication type:

Article

Diagnostic evaluation of patients with epileptic spasms in the era of next‐generation sequencing.

Published in:

Epileptic Disorders, 2024, v. 26, n. 5, p. 651, doi. 10.1002/epd2.20259

By:

Mir, Ali;
AlQahtani, Mohammed;
Amer, Fawzia;
AlBaradie, Raidah;
AlOtaibi, Wajd;
AlGhamdi, Fouad;
Khallaf, Hamoud;
Bashir, Shahid;
Costain, Gregory;
Aljouda, Liali;
Housawi, Yousef

Publication type:

Article

Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01895-x

By:

Sharma, Saniya;
Basu, Suprit;
Goyal, Taru;
Sharma, Madhubala;
Barman, Prabal;
Kaur, Gurjit;
Shandilya, Jitendra K.;
Vignesh, Pandiarajan;
Pilania, Rakesh Kumar;
Jindal, Ankur Kumar;
Dhaliwal, Manpreet;
Bhatia, Prateek;
Sreedharanunni, Sreejesh;
Rastogi, Pulkit;
Mallik, Nabhajit;
Sharma, Prashant;
Kaur, Anupriya;
Suri, Deepti;
Rawat, Amit;
Singh, Surjit

Publication type:

Article

Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin.

Published in:

Nephrology Dialysis Transplantation, 2025, v. 40, n. 6, p. 1225, doi. 10.1093/ndt/gfae270

By:

Haan, Amber de;
Eijgelsheim, Mark;
Vogt, Liffert;
Hoorn, Ewout J;
Rotmans, Joris I;
Fortrie, Gijs;
Marsman, Roos F J;
Rothuizen, Tonia C;
Spijker, H Siebe;
Claus, Laura R;
Konings, Constantijn J A M;
Waanders, Femke;
Doornebal, Joan;
Kramer, Andrea B;
Adema, Aaltje Y;
van der Zwaag, Bert;
Eerde, Albertien M van;
Knoers, Nine V A M;
Borst, Martin H de

Publication type:

Article

Variants in ATP6V0C are associated with Dravet‐like developmental and epileptic encephalopathy.

Published in:

Epilepsia (Series 4), 2025, v. 66, n. 6, p. 2046, doi. 10.1111/epi.18346

By:

Rong, Marlene;
Marques, Paula T.;
Ali, Quratulain Zulfiqar;
Morcos, Ricardo;
Chandran, Ilakkiah;
Qaiser, Farah;
Møller, Rikke S.;
Bayat, Allan;
Rubboli, Guido;
Gardella, Elena;
Reuter, Miriam S.;
Sands, Tristan T.;
Scheffer, Ingrid E.;
Schneider, Amy;
Poduri, Annapurna;
Wirrell, Elaine;
Nabbout, Rima;
Sullivan, Joseph;
Valente, Kette;
Auvin, Stéphane

Publication type:

Article

Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1594636

By:

Agrebi, Nourhen;
Mackeh, Rafah;
Alsabbagh, Mohamed;
Elmi, Asha;
Al-Marri, Amnah A.;
Hubrack, Satanay Z.;
Purayil, Saleema C.;
Karim, Mohammed Yousuf;
Hassan, Amel;
Lo, Bernice

Publication type:

Article

On‐site genetic diagnosis for the invasive pest Hylurgus ligniperda (Fabricius) and its possible application.

Published in:

Pest Management Science, 2025, v. 81, n. 7, p. 3899, doi. 10.1002/ps.8756

By:

Li, Chengjin;
Wang, Buxin;
Zhou, Zhongfu;
Lin, Ruozhu;
Huai, Wenxia;
Wang, Xiaoyi;
Zong, Shixiang;
Yao, Yanxia

Publication type:

Article

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

Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 612, doi. 10.1111/cge.14692

By:

Fattahi, Zohreh;
Shokouhian, Ebrahim;
Peymani, Fatemeh;
Babanejad, Mojgan;
Beheshtian, Maryam;
Edizadeh, Masoud;
Molaei, Negar;
Alagha, Parnian;
Ghodratpour, Fatemeh;
Keshavarzi, Fatemeh;
Moghadam, Masoumeh Goleyjani;
Arzhangi, Sanaz;
Kahrizi, Kimia;
Najmabadi, Hossein

Publication type:

Article

Visual Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD).

Published in:

Deutsches Ärzteblatt International, 2025, v. 122, n. 8, p. 210, doi. 10.3238/arztebl.m2024.0258

By:

Erdmann, H.;
Abicht, A.;
Becker, K.

Publication type:

Article

Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100038

By:

Mathur, Priyanshu;
Kaur, Ashmeet;
Agarwal, Kamlesh Kumar;
Agarwal, Lokesh Kumar;
Mathur, Avisha;
Choudhary, Deepti

Publication type:

Article

Research on Grounding Grid Corrosion Diagnosis Based on Genetic K‐Means Algorithm.

Published in:

Energy Science & Engineering, 2025, v. 13, n. 6, p. 3074, doi. 10.1002/ese3.70087

By:

Huang, Longsheng;
Xiao, Xianghui;
Huang, Mingxian;
Zhang, Zhenshan;
Song, Yunhao;
Guan, Luchang

Publication type:

Article

Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1565296

By:

Almeida, Julia V.;
Abdala, Bianca Barbosa;
Rabelo, Natana Chaves;
Gomes, Maria Eduarda;
Ferreira Bastos, Elenice;
Llerena Jr., Juan Clinton;
Gonzalez, Sayonara

Publication type:

Article

A challenging case of limb autoamputation.

Published in:

2025

By:

Aliyev, Emil;
Celep, Ismahan;
Cam, Veysel;
Ozen, Seza;
Sag, Erdal

Publication type:

Case Study

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A : case report.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1602107

By:

Boyarchuk, Oksana;
Volokha, Alla;
Yarema, Nataliia;
Dyvoniak, Olga;
Tomashivska, Tetyana;
Shymanska, Ivanna;
Makukh, Halyna;
Walter, Jolan E.

Publication type:

Article

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