Works matching X-linked genetic disorders

Results: 928

X-Linked Hypophosphatemia with Whole Aspects.

Published in:

Endocrinology Research & Practice, 2025, v. 29, n. 3, p. 235, doi. 10.5152/erp.2025.24622

By:

Basmaci, Nergis;
Gürlek, Alper

Publication type:

Article

Aspecte clinico-genetice în sindromul X fragil la copii.

Published in:

Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2025, v. 31, n. 1, p. 45

By:

Sprincean, Mariana;
Hadjiu, Svetlana;
Sprincean, Serghei;
CălcîI, Cornelia;
Vasilachi, Dorina;
Badan, Liliana;
Balica, Natalia;
Constantin, Olga;
Capestru, Elena;
Istratiuc, Irina;
Racoviță, Stela;
Dumitraș, Aliona;
Revenco, Ninel;
Groppa, St.

Publication type:

Article

Anesthesia management protocol for liver transplantation as treatment for ornithine transcarbamylase deficiency.

Published in:

Pediatric Anesthesia, 2023, v. 33, n. 8, p. 620, doi. 10.1111/pan.14691

By:

Baba, Chiaki;
Yukimasa, Sho;
Yasuno, Risa;
Ichiyanagi, Hiroki;
Ninagawa, Jun;
Kasuya, Shugo;
Kasahara, Mureo;
Horikawa, Reiko;
Nagasaka, Yasuko;
Suzuki, Yasuyuki

Publication type:

Article

Utilization of Glucose-6-Phosphate Dehydrogenase Test and the Prevalence of Enzyme Deficiency in Korea.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 9, p. 3179, doi. 10.3390/jcm12093179

By:

Choi, Rihwa;
Park, Wonseo;
Chun, Gayoung;
Lee, Sang Gon;
Lee, Eun Hee

Publication type:

Article

Prevalence and population genetic data of colour vision deficiency among students from selected tertiary institutions in Lagos State, Nigeria.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00287-9

By:

Fakorede, Samson Taiwo;
Akpan, Lydia Gift;
Adekoya, Khalid Olajide;
Oboh, Bola

Publication type:

Article

Prevalence and population genetic data of colour vision deficiency among students from selected tertiary institutions in Lagos State, Nigeria.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, p. 1, doi. 10.1186/s43042-022-00287-9

By:

Taiwo Fakorede, Samson;
Gift Akpan, Lydia;
Adekoya, Khalid Olajide;
Oboh, Bola

Publication type:

Article

Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2020, v. 34, n. 7, p. 1415, doi. 10.1111/jdv.16403

By:

Bodemer, C.;
Diociaiuti, A.;
Hadj‐Rabia, S.;
Robert, M.P.;
Desguerre, I.;
Manière, M.‐C.;
Dure‐Molla, M.;
De Liso, P.;
Federici, M.;
Galeotti, A.;
Fusco, F.;
Fraitag, S.;
Demily, C.;
Taieb, C.;
Valeria Ursini, M.;
El Hachem, M.;
Steffann, J.

Publication type:

Article

Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study.

Published in:

2019

By:

Mazar, Iyar;
Stokes, Jonathan;
Ollis, Sarah;
Love, Emily;
Espensen, Ashlee;
Barth, Peter G.;
Powers III, John H.;
Shields, Alan L.;
Powers, John H 3rd

Publication type:

journal article

X-Linked CGD Chorioretinitis in Two Young Girls.

Published in:

Biomedicines, 2025, v. 13, n. 2, p. 323, doi. 10.3390/biomedicines13020323

By:

Bailey, Johnathan Abraham;
Kong, Maximilian Daechul;
Piamjitchol, Chanakarn;
Hou, Baichun;
Exinor, Abdhel;
Nayak, Antara;
Heaps, Noah;
Demirkol, Aykut;
Tsang, Stephen H.

Publication type:

Article

Mechanisms of Chimeric Cell Therapy in Duchenne Muscular Dystrophy.

Published in:

Biomedicines, 2024, v. 12, n. 9, p. 1996, doi. 10.3390/biomedicines12091996

By:

Siemionow, Maria;
Ziemiecka, Anna;
Bożyk, Katarzyna;
Siemionow, Krzysztof

Publication type:

Article

Case Report: EBV-Positive Extra-Nodal Marginal Zone Lymphoma Associated With XMEN Disease Caused by a Novel Hemizygous Mutation in MAGT1.

Published in:

Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.653266

By:

Huang, Xin;
Liu, Dan;
Gao, Zifen;
Liu, Cuiling

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

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

Cutaneous clues for diagnosing X-chromosomal disorders.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 328, doi. 10.1111/cge.12162

By:

Vreeburg, M.;
Sallevelt, S.C.E.H.;
Stegmann, A.P.A.;
van Geel, M.;
Detisch, Y.J.H.A.;
Schrander‐Stumpel, C.T.R.M.;
van Steensel, M.A.M.;
Marcus‐Soekarman, D.

Publication type:

Article

Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in southeast Iran: implications for malaria elimination.

Published in:

Journal of Infection in Developing Countries, 2015, v. 9, n. 3, p. 289, doi. 10.3855/jidc.5572

By:

Tabatabaei, Seyed Mehdi;
Khorashad, Alireza Salimi;
Sakeni, Mohammad;
Raeisi, Ahmad;
Metanat, Zahra

Publication type:

Article

X-linked agammaglobulinemia in two siblings with a novel mutation in the BTK gene who presented with polyarticular juvenile idiopathic arthritis.

Published in:

Scandinavian Journal of Rheumatology, 2015, v. 44, n. 2, p. 168, doi. 10.3109/03009742.2014.995699

By:

Patiroglu, T;
Akar, HH;
Gunduz, Z;
Sisko, S;
Ng, YY

Publication type:

Article

Longitudinal assessment of physical function in adults with X-linked hypophosphatemia following initiation of burosumab therapy.

Published in:

Osteoporosis International, 2024, v. 35, n. 11, p. 2055, doi. 10.1007/s00198-024-07095-4

By:

Orlando, Giorgio;
Roy, Matthew;
Bubbear, Judith;
Clarke, Shane;
Keen, Richard;
Javaid, Muhammad Kassim;
Ireland, Alex

Publication type:

Article

Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR.

Published in:

Human Heredity, 2023, v. 88, n. 1, p. 1, doi. 10.1159/000527806

By:

Chen, Shiguo;
Gao, Jian;
Wu, Qunyan;
Li, Xi;
Lin, Sheng;
Su, Jindi;
Zheng, Kaifeng;
Guo, Zhaopeng;
Yao, Jilong;
Duan, Shan

Publication type:

Article

Whole Body, Whole Life, Whole Family: Patients' Perspectives on X-Linked Hypophosphatemia.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 8, p. 1, doi. 10.1210/jendso/bvac086

By:

Hamilton, Amber A;
Faitos, Susan;
Jones, Gin;
Kinsley, Athina;
Gupta, Rupal Naik;
Lewiecki, E Michael

Publication type:

Article

When sex matters: a complete model of X-linked diseases.

Published in:

International Journal of General Systems, 2018, v. 47, n. 6, p. 549, doi. 10.1080/03081079.2018.1473391

By:

Del Vecchio, C.;
Verrilli, F.;
Glielmo, L.

Publication type:

Article

Time to diagnosis of Duchenne muscular dystrophy in Austria and Germany.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-022-27289-2

By:

Hiebeler, Miriam;
Thiele, Simone;
Reilich, Peter;
Bernert, Günther;
Walter, Maggie C.

Publication type:

Article

Aarskog-Scott syndrome: An unusual cause of scoliosis.

Published in:

2017

By:

SARIYILMAZ, KERIM;
OZKUNT, OKAN;
KORKMAZ, MURAT;
DIKICI, FATIH;
DOMANIC, UNSAL

Publication type:

Case Study

49 Case Study: Cognitive Deficits Associated with Norrie Disease.

Published in:

2023

By:

LeRoy, Amy;
Indorewalla, Khushnoo K;
Phenis, Richard;
Ku, Joyce Yi Hsuan

Publication type:

Abstract

Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8645, doi. 10.3390/ijms22168645

By:

Fujiwara, Yuko;
Hama, Kotaro;
Shimozawa, Nobuyuki;
Yokoyama, Kazuaki

Publication type:

Article

Peroxisomal ABC Transporters: An Update.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6093, doi. 10.3390/ijms22116093

By:

Tawbeh, Ali;
Gondcaille, Catherine;
Trompier, Doriane;
Savary, Stéphane

Publication type:

Article

miRNA Profiling for Early Detection and Treatment of Duchenne Muscular Dystrophy.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4638, doi. 10.3390/ijms20184638

By:

Hrach, Heather C.;
Mangone, Marco

Publication type:

Article

Recurrence of vesicular stage lesions in an adult female patient with incontinentia pigmenti‐including molecular analysis.

Published in:

Australasian Journal of Dermatology, 2022, v. 63, n. 2, p. 258, doi. 10.1111/ajd.13837

By:

Kosidcanasap, Purich;
Tanabodee, Monton;
Bunnag, Thareena;
Chaowalit, Prapaipit;
Puangpet, Pailin;
Supsrisunjai, Chavalit

Publication type:

Article

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.

Published in:

Revista Paulista de Pediatria, 2023, v. 41, p. 1, doi. 10.1590/1984-0462/2023/41/2022057

By:

Patricia Migliavacca, Michele;
Ambrosio Fock, Rodrigo;
Almeida, Nadia;
Cavalcanti, Thereza;
Villela, Darine;
Alvarez Perez, Ana Beatriz;
Valle, David;
Wohler, Elizabeth;
Lygia de Macena Sobreira, Nara;
Raskin, Salmo

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

Restoration of mitophagy ameliorates cardiomyopathy in Barth syndrome.

Published in:

Autophagy, 2022, v. 18, n. 9, p. 2134, doi. 10.1080/15548627.2021.2020979

By:

Zhang, Jun;
Liu, Xueling;
Nie, Jia;
Shi, Yuguang

Publication type:

Article

Three Cases of Pigmentary Incontinence and Literature Review.

Published in:

Journal of Pediatrics Review, 2024, v. 12, n. 4, p. 359, doi. 10.32598/jpr.12.4.1212.2

By:

Yunfeng Zhang;
Yuan Wang;
Di Ma;
Jinpu Zhang;
Na Song

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

Nance-Horan Syndrome: A Rare Case Report.

Published in:

2017

By:

Sharma, Shambhu;
Datta, Pankaj;
Sabharwal, Janak Raj;
Datta, Sonia

Publication type:

Case Study

Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey.

Published in:

Annals of Hematology, 2023, v. 102, n. 11, p. 3177, doi. 10.1007/s00277-023-05363-7

By:

Sun, Xing-Hua;
Liu, Qin;
Wu, Sheng-Nan;
Xu, Wu-Hen;
Chen, Kai;
Shao, Jing-Bo;
Jiang, Hui

Publication type:

Article

Variations in native T1 values in patients with Duchenne muscular dystrophy with and without late gadolinium enhancement.

Published in:

International Journal of Cardiovascular Imaging, 2021, v. 37, n. 2, p. 635, doi. 10.1007/s10554-020-02031-z

By:

Lang, Sean M.;
Alsaied, Tarek;
Khoury, Philip R.;
Ryan, Thomas D.;
Taylor, Michael D.

Publication type:

Article

A Rare Cause of Acute Kidney Injury: G6PD Deficiency and Rhabdomyolysis.

Published in:

Revista de Nefrología Diálisis y Trasplante, 2025, v. 45, n. 1, p. 43

By:

Koç, Neriman Sıla

Publication type:

Article

Respiratory capacity is maintained despite Duchenne muscular dystrophy‐related diaphragm weakness.

Published in:

Journal of Physiology, 2019, v. 597, n. 12, p. 2973, doi. 10.1113/JP278100

By:

Gudmundson, Kelsey;
Kalra, Harsimran K.;
Tymko, Michael M.;
McElwee, Kaylie

Publication type:

Article

Recent Advances in Gene Therapy for Hemophilia: Projecting the Perspectives.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 7, p. 854, doi. 10.3390/biom14070854

By:

Chernyi, Nikita;
Gavrilova, Darina;
Saruhanyan, Mane;
Oloruntimehin, Ezekiel S.;
Karabelsky, Alexander;
Bezsonov, Evgeny;
Malogolovkin, Alexander

Publication type:

Article

Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1395287

By:

Germain, Dominique P.;
Linhart, Ales

Publication type:

Article

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

Endolymphatic Hydrop Phenotype in Familial Norrie Disease Caused by Large Fragment Deletion of NDP.

Published in:

Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.771328

By:

Gong, Yuerong;
Liu, Zhang;
Zhang, Xiaolin;
Shen, Shuang;
Xu, Qijun;
Zhao, Hongchun;
Shang, Jing;
Li, Weiguo;
Wang, Yanfei;
Chen, Jun;
Liu, Xiuzhen;
Zheng, Qing Yin

Publication type:

Article

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 205, doi. 10.2147/TACG.S498338

By:

Kałużewski, Tadeusz;
Pinkier, Iwona;
Wysocka, Urszula;
Sałamunia, Jordan;
Kępczyński, Łukasz;
Piotrowicz, Małgorzata;
Kałużewski, Bogdan;
Gach, Agnieszka

Publication type:

Article

Methemoglobinemia in an Elderly Patient with Glucose-6-Phosphate Dehydrogenase Deficiency: A Case Report.

Published in:

Oman Medical Journal, 2014, v. 29, n. 2, p. 135, doi. 10.5001/omj.2014.33

By:

Hassan, Kowthar S.;
Al-Riyami, Arwa Z.;
Al-Huneini, Mohamed;
Al-Farsi, Khalil;
Al-Khabori, Murtadha

Publication type:

Article

Prevalence and genotypic frequency of color vision defects among primary schoolchildren in Adama Town, Eastern Ethiopia.

Published in:

BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04529-0

By:

Gudeta, Temesgen Bedassa;
Asrat, Tiruneh

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

Electrochemical impedance biosensor based on Y chromosome–specific sequences for fetal sex determination.

Published in:

Microchimica Acta, 2023, v. 190, n. 12, p. 1, doi. 10.1007/s00604-023-06061-x

By:

Tahmasebi, Parisa;
Farokhi, Somayeh;
Ahmadi, Gelavizh;
Roushani, Mahmoud

Publication type:

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

Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease.

Published in:

Annals of Neurology, 2022, v. 91, n. 1, p. 158, doi. 10.1002/ana.26274

By:

Jokela, Manu;
Karhu, Jari;
Nurminen, Janne;
Martikainen, Mika H.

Publication type:

Article

The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 8, p. 1903, doi. 10.1007/s10815-020-01840-4

By:

Zuckerman, Shachar;
Gooldin, Sigal;
Zeevi, David A.;
Altarescu, Gheona

Publication type:

Article