Works matching X-linked genetic disorders

Results: 219

Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 4, p. 296, doi. 10.1038/jhg.2011.7

By:

Miura, Kiyonori;
Higashijima, Ai;
Shimada, Takako;
Miura, Shoko;
Yamasaki, Kentaro;
Abe, Shuhei;
Jo, Ozora;
Kinoshita, Akira;
Yoshida, Atsushi;
Yoshimura, Shuichiro;
Niikawa, Norio;
Yoshiura, Koh-ichiro;
Masuzaki, Hideaki

Publication type:

Article

Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.

Published in:

European Journal of Endocrinology, 2020, v. 183, n. 5, p. 497, doi. 10.1530/EJE-20-0275

By:

Thiele, Susanne;
Werner, Ralf;
Stubbe, Annika;
Hiort, Olaf;
Hoeppner, Wolfgang

Publication type:

Article

The Rare Presence of Two Genetic Disorders (Neurofibromatosis 1 and X-Linked Recessive Ichthyosis) in a Single Patient.

Published in:

2023

By:

Bansal, Shivani;
Singh, Sushama

Publication type:

Case Study

Genetics Corner: X-linked ZC4H2-Associated Rare Disorder in a Female with Arthrogryposis Multiplex Congenita.

Published in:

2024

By:

Shin, Jennifer;
Bottino, Hayley;
Wilson, Laura

Publication type:

Case Study

Effects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders.

Published in:

ASN Neuro (Sage Publications, Ltd.), 2017, v. 9, n. 4, p. 1, doi. 10.1177/1759091417720583

By:

Wight, Patricia A.

Publication type:

Article

ADRENALOLEUKODISTROFIJA.

Published in:

Medical Gazette / Medicinski Glasnik, 2016, v. 21, n. 61, p. 21

By:

Nišić, Tatjana;
Ćirić, Jasmina;
Dragašević-Mišković, N.;
Stojanović, Miloš;
Beleslin, Biljana;
Stojković, Mirjana;
Savić, Slavica;
Lalić, Tijana;
Barać, M.;
Žarković, Miloš

Publication type:

Article

Lesch-Nyhan syndrome: A treatment planning dilemma.

Published in:

Clinical Dentistry (0974-3979), 2022, v. 16, n. 1, p. 18, doi. 10.33882/ClinicalDent.15.30268

By:

Ram, Avaneeth

Publication type:

Article

Ganaxolone in seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: a profile of its use in the USA.

Published in:

Drugs & Therapy Perspectives, 2023, v. 39, n. 3, p. 81, doi. 10.1007/s40267-022-00976-w

By:

Keam, Susan J.;
Al-Salama, Zaina T.

Publication type:

Article

Duchenne muscular dystrophy in females: a rare genetic disorder and occupational therapy perspectives.

Published in:

2002

By:

Schroeder-Smith K;
Tischenkel C;
DeLange L;
Lou JQ

Publication type:

Journal Article

Cell based therapy for duchenne muscular dystrophy.

Published in:

Journal of Cellular Physiology, 2009, v. 221, n. 3, p. 526, doi. 10.1002/jcp.21895

By:

FARINI, ANDREA;
RAZINI, PAOLA;
ERRATICO, SILVIA;
TORRENTE, YVAN;
MEREGALLI, MIRELLA

Publication type:

Article

Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.

Published in:

Nephrology Dialysis Transplantation, 2008, v. 23, n. 5, p. 1600

By:

Alberto Ortiz;
João P. Oliveira;
Steven Waldek;
David G. Warnock;
Bruno Cianciaruso;
Christoph Wanner;
on behalf of the Fabry Registry

Publication type:

Article

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 6, p. 648, doi. 10.1002/acn3.203

By:

Kevelam, Sietske H.;
Taube, Jennifer R.;
Spaendonk, Rosalina M. L.;
Bertini, Enrico;
Sperle, Karen;
Tarnopolsky, Mark;
Tonduti, Davide;
Valente, Enza Maria;
Travaglini, Lorena;
Sistermans, Erik A.;
Bernard, Geneviève;
Catsman ‐ Berrevoets, Coriene E.;
Karnebeek, Clara D. M.;
Østergaard, John R.;
Friederich, Richard L.;
Fawzi Elsaid, Mahmoud;
Schieving, Jolanda H.;
Tarailo ‐ Graovac, Maja;
Orcesi, Simona;
Steenweg, Marjan E.

Publication type:

Article

Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1512070

By:

Zheng, Haoyang;
Chen, Gui;
Wang, Tingting;
Cheng, Weisheng;
Yuan, Jing;
Liu, Fang;
Xu, Yuanhong

Publication type:

Article

Multimodality imaging in Fabry cardiomyopathy: from early diagnosis to therapeutic targets.

Published in:

European Heart Journal - Cardiovascular Imaging, 2018, v. 19, n. 12, p. 1313, doi. 10.1093/ehjci/jey132

By:

Militaru, Sebastian;
Ginghină, Carmen;
Popescu, Bogdan A;
Săftoiu, Adrian;
Linhart, Ales;
Jurcuţ, Ruxandra

Publication type:

Article

Whole-body clearing, staining and screening of calcium deposits in the mdx mouse model of Duchenne muscular dystrophy.

Published in:

Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0168-8

By:

Bozycki, Lukasz;
Łukasiewicz, Kacper;
Matryba, Paweł;
Pikula, Slawomir

Publication type:

Article

Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report.

Published in:

Clinical, Cosmetic & Investigational Dermatology, 2023, v. 16, p. 3527, doi. 10.2147/CCID.S439288

By:

Rubaian, Nouf F Bin;
Al-Awam, Bashayer S;
Alluhaybi, Abdulelah Hassan;
Alsaati, Ahmed Abdulaziz

Publication type:

Article

Phytanic Acid and Very Long Chain Fatty Acids in Genetic Peroxisomal Disorders.

Published in:

Clinical Chemistry & Laboratory Medicine, 1989, v. 27, n. 5, p. 309

By:

Molzer, Brunhilde;
Kainz-Korschinsky, Marina;
Sundt-Heller, Regina;
Bernheimer, H.

Publication type:

Article

Rare variability in adrenoleukodystrophy: a case report.

Published in:

2018

By:

Chen, Yanming;
Polara, Farhana;
Pillai, Anjana

Publication type:

journal article

Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population.

Published in:

PLoS ONE, 2023, v. 18, n. 12, p. 1, doi. 10.1371/journal.pone.0294891

By:

Xuan-Rong Koh, Danny;
Zailani, Mohamed Afiq Hidayat;
Raja Sabudin, Raja Zahratul Azma;
Muniandy, Sanggari;
Muhamad Hata, Nur Awatif Akmal;
Mohd Noor, Siti Noor Baya;
Zakaria, Norhazilah;
Othman, Ainoon;
Ismail, Endom

Publication type:

Article

Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome.

Published in:

PLoS ONE, 2023, v. 18, n. 8, p. 1, doi. 10.1371/journal.pone.0290832

By:

Schweitzer, George G.;
Ditzenberger, Grace L.;
Hughey, Curtis C.;
Finck, Brian N.;
Martino, Michael R.;
Pacak, Christina A.;
Byrne, Barry J.;
Cade, William Todd

Publication type:

Article

Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-024-01848-w

By:

Gaikwad, Pallavi;
Bargir, Umair A.;
Jodhawat, Neha;
Dalvi, Aparna;
Shinde, Shweta;
Tamhankar, Parag;
Setia, Priyanka;
Kambli, Priyanka;
Dhawale, Amruta;
Temkar, Lavina;
Vedpathak, Disha;
Jose, Amrutha;
Gupta, Maya;
Yadav-Malik, Reetika;
Dutta, Shubhankar;
Bose, Kokoli;
Taur, Prasad;
Gowri, Vijaya;
Iyengar, Vaishnavi;
Chougule, Akshaya

Publication type:

Article

Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease.

Published in:

2008

By:

Gibas AL;
Klatt R;
Johnson J;
Clarke JT;
Katz J

Publication type:

Journal Article

Disease Rarity, Carrier Status, and Gender: A Triple Disadvantage for Women with Fabry Disease.

Published in:

Journal of Genetic Counseling, 2008, v. 17, n. 6, p. 528

By:

Regan Klatt;
Jack Johnson;
Joe Clarke

Publication type:

Article

Fungiform Papilla Number and Olfactory Threshold Assessment in Males With and Without Barth Syndrome.

Published in:

Chemosensory Perception, 2017, v. 10, n. 3, p. 60, doi. 10.1007/s12078-017-9228-4

By:

Reynolds, Stacey;
Burgess, M.;
Hymowitz, Nava;
Snyder, Derek;
Lane, Shelly

Publication type:

Article

Prevalence of G6PD deficiency and Plasmodium falciparum parasites in asymptomatic school children living in southern Ghana.

Published in:

Malaria Journal, 2016, v. 15, p. 1, doi. 10.1186/s12936-016-1440-1

By:

Amoah, Linda Eva;
Opong, Akua;
Ayanful-Torgby, Ruth;
Abankwa, Joana;
Acquah, Festus K.

Publication type:

Article

Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report.

Published in:

2020

By:

Hewavitharana, Hasani;
Jasinge, Eresha;
Abeysekera, Hiranya;
Wanigasinghe, Jithangi

Publication type:

journal article

Identification of a novel nonsense mutation in <italic>SH2D1A</italic> in a patient with X-linked lymphoproliferative syndrome type 1: a case report.

Published in:

2018

By:

Lyu, Xiaodong;
Guo, Zhen;
Li, Yangwei;
Fan, Ruihua;
Song, Yongping

Publication type:

Case Study

Airway management of a patient with coffin-lowry syndrome: a case report.

Published in:

BMC Anesthesiology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12871-024-02667-7

By:

Ghose, Shaarav;
Nisar, Faria;
Aleem, Bushra Abdul

Publication type:

Article

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.

Published in:

2017

By:

Huang, Xiaoyan;
Tian, Mao;
Li, Jiankang;
Cui, Ling;
Li, Min;
Zhang, Jianguo

Publication type:

journal article

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.

Published in:

Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00701-w

By:

Zanetti, Alessandra;
D'Avanzo, Francesca;
Tomanin, Rosella

Publication type:

Article

Age‐dependent changes in metabolite profile and lipid saturation in dystrophic mice.

Published in:

NMR in Biomedicine, 2019, v. 32, n. 5, p. N.PAG, doi. 10.1002/nbm.4075

By:

Lee‐McMullen, Brittany;
Chrzanowski, Stephen M.;
Vohra, Ravneet;
Forbes, Sean C.;
Vandenborne, Krista;
Edison, Arthur S.;
Walter, Glenn A.

Publication type:

Article

PRENATAL GENDER SELECTION: MEDICAL, ETHICAL AND PSYCHOLOGICAL ASPECTS.

Published in:

EUREKA: Life Sciences, 2023, n. 3, p. 3, doi. 10.21303/2504-5695.2023.002923

By:

Kovalyova, Olga;
Mykytenko, Dmytro

Publication type:

Article

PRENATAL GENDER SELECTION: MEDICAL, ETHICAL AND PSYCHOLOGICAL ASPECTS.

Published in:

EUREKA: Health Sciences, 2023, n. 3, p. 58, doi. 10.21303/2504-5679.2023.003005

By:

Kovalyova, Olga;
Mykytenko, Dmytro

Publication type:

Article

Х-свързана миотубуларна миопатия - клиничен случай.

Published in:

Pediatria, 2021, v. 61, n. 2, p. 38

By:

Александрова, В.;
Масларска, Р.;
Калайджиева, М.;
Денева, С.;
Константинова, В.;
Игова, Е.;
Иванова, Ж.;
Иванова, В.;
Керинова, Е.;
Чимева, В.;
Узунова, А.;
Хаджипантелеев&#, А.;
Тинчева, Р.

Publication type:

Article

Early Identification of DMD in the Setting of West Syndrome.

Published in:

Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211036546

By:

Razeq, Ahmed;
Ahmad, Samiya

Publication type:

Article

Early Identification of DMD in the Setting of West Syndrome.

Published in:

Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211036546

By:

Razeq, Ahmed;
Ahmad, Samiya

Publication type:

Article

Clinical development of novel therapies for Duchenne muscular dystrophy—Current and future.

Published in:

Neurology & Clinical Neuroscience, 2023, v. 11, n. 3, p. 111, doi. 10.1111/ncn3.12691

By:

Tominari, Tsukasa;
Aoki, Yoshitsugu

Publication type:

Article

Opportunistic Infections, Mortality Risk, and Prevention Strategies in Patients With Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic (VEXAS) Syndrome.

Published in:

Open Forum Infectious Diseases, 2024, v. 11, n. 7, p. 1, doi. 10.1093/ofid/ofae405

By:

Czech, Mary;
Cuellar-Rodriguez, Jennifer;
Patel, Bhavisha A;
Groarke, Emma M;
Cowen, Edward W;
Turturice, Benjamin;
Beck, David B;
Wilson, Lorena;
Goodspeed, Wendy;
Darden, Ivana;
Young, Neal S;
Hickstein, Dennis;
Ombrello, Amanda;
Hoffman, Patrycjia;
Arikan, Evsen Apaydin;
Sinaii, Ninet;
Hathaway, Londa;
Castelo-Soccio, Leslie;
Fike, Alice;
Kastner, Daniel B

Publication type:

Article

X-linked ichthyosis: an update.

Published in:

British Journal of Dermatology, 1999, v. 141, n. 4, p. 617, doi. 10.1046/j.1365-2133.1999.03098.x

By:

Hernández-Martín;
González-Sarmiento;
De Unamuno;
Hernández-Martín, Angela

Publication type:

Article

Challenges in the Dental Management of Rett Syndrome under General Anesthesia: A Rare Disease.

Published in:

2022

By:

Al-Hathlol, Wisam;
Bokhari, Raed;
Alzahrani, Nada;
Alkuwaiti, Elaf

Publication type:

Case Study

Gender Specific Issues in Hereditary Ocular Disorders.

Published in:

Current Eye Research, 2015, v. 40, n. 2, p. 128, doi. 10.3109/02713683.2014.932813

By:

Iragavarapu, Saradha;
Gorin, Michael B.

Publication type:

Article

Sunitinib inhibits STAT3 phosphorylation in cardiac muscle and prevents cardiomyopathy in the mdx mouse model of Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2358, doi. 10.1093/hmg/ddac042

By:

Oliveira-Santos, Ariany;
Dagda, Marisela;
Burkin, Dean J

Publication type:

Article

Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 11, p. 1006, doi. 10.1093/hmg/ddab100

By:

Nogami, Ken'ichiro;
Maruyama, Yusuke;
Sakai-Takemura, Fusako;
Motohashi, Norio;
Elhussieny, Ahmed;
Imamura, Michihiro;
Miyashita, Satoshi;
Ogawa, Megumu;
Noguchi, Satoru;
Tamura, Yuki;
Kira, Jun-ichi;
Aoki, Yoshitsugu;
Takeda, Shin'ichi;
Miyagoe-Suzuki, Yuko

Publication type:

Article

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2781, doi. 10.1093/hmg/ddx173

By:

Petrillo, Sara;
Pelosi, Laura;
Piemonte, Fiorella;
Travaglini, Lorena;
Forcina, Laura;
Catteruccia, Michela;
Petrini, Stefania;
Verardo, Margherita;
D'Amico, Adele;
Musarò, Antonio;
Bertini, Enrico

Publication type:

Article

MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2062, doi. 10.1093/hmg/ddx099

By:

Donnio, Lise-Marie;
Bidon, Baptiste;
Satoru Hashimoto;
May, Melanie;
Epanchintsev, Alexey;
Ryan, Colm;
Allen, William;
Hackett, Anna;
Gecz, Jozef;
Skinner, Cindy;
Stevenson, Roger E.;
de Brouwer, Arjan P. M.;
Coutton, Charles;
Francannet, Christine;
Jouk, Pierre-Simon;
Schwartz, Charles E.;
Egly, Jean-Marc

Publication type:

Article

A patient-centered qualitative evaluation of meaningful change on the NSAA and PUL in Duchenne Muscular Dystrophy.

Published in:

Frontiers in Neurology, 2025, p. 1, doi. 10.3389/fneur.2025.1509174

By:

Gillman, Aviva;
Ciobanu, Teofil;
Barrett, Louise;
Davies, Evan W.;
Murphy, Alexander P.;
Johnson, Alex;
Mills, Jessica;
Heinrich, Phoebe;
Przydzial, Krystian;
Ewens, Bethany;
Vandenberg, Gerrit;
Cano, Stefan;
Mayhew, Anna

Publication type:

Article

Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.754084

By:

Mindler, Gabriel T.;
Kranzl, Andreas;
Stauffer, Alexandra;
Kocijan, Roland;
Ganger, Rudolf;
Radler, Christof;
Haeusler, Gabriele;
Raimann, Adalbert

Publication type:

Article

Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency.

Published in:

Molecular Syndromology, 2010, v. 1, n. 6, p. 311, doi. 10.1159/000331323

By:

Joost, K.;
Tammur, P.;
Teek, R.;
Žilina, O.;
Peters, M.;
Kreile, M.;
Lace, B.;
Žordania, R.;
Talvik, I.;
Õunap, K.

Publication type:

Article

Dilemma in the Management of Duchenne Muscular Dystrophy in a Resource Limited Settings.

Published in:

Journal of Nepal Paediatric Society, 2018, v. 38, n. 2, p. 122, doi. 10.3126/jnps.v38i2.18623

By:

A. B., Usman;
P., Emmanuel;
E. O., Onimisi;
O. A., Oyinloye;
A., Nachanuya;
M. A., Abubakar;
H. A., Nggada

Publication type:

Article

Decline in health-related quality of life and foot and ankle patient reported outcomes measures in patients with haemophilia and ankle haemarthropathy.

Published in:

Journal of Foot & Ankle Research, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13047-023-00611-5

By:

Wilkins, Richard A.;
Siddle, Heidi J.;
Chapman, Graham J.;
Horn, Elizabeth;
Walwyn, Rebecca;
Redmond, Anthony C.

Publication type:

Article