Works matching DE "X-linked genetic disorders"

Results: 738

X-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children.

Published in:

Neurology India, 2022, v. 70, n. 4, p. 1643, doi. 10.4103/0028-3886.355110

By:

Rajeshwari, Madhu;
Dhiman, Neena;
Chakrabarty, Biswaroop;
Gulati, Sheffali;
Shamim, Uzma;
Faruq, Mohammed;
Suri, Vaishali;
Sharma, Mehar Chand

Publication type:

Article

Genetics and Molecular Pathogenesis of Human Hydrocephalus.

Published in:

2021

By:

Garcia-Bonilla, Maria;
McAllister, James;
Limbrick, David;
McAllister, James P;
Limbrick, David D

Publication type:

journal article

X-Linked Myopathy with Excessive Autophagy; A Case Report.

Published in:

2019

By:

Rao, Shilpa;
Chandra, S;
Narayanappa, Gayathri;
Chandra, S R

Publication type:

Case Study

Commonly available outcome measures for use in Indian boys with Duchenne muscular dystrophy.

Published in:

2018

By:

Arora, Harneet

Publication type:

journal 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

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

Lower limb bone geometry in adult individuals with X-linked hypophosphatemia: an observational study.

Published in:

Osteoporosis International, 2022, v. 33, n. 7, p. 1601, doi. 10.1007/s00198-022-06385-z

By:

Scorcelletti, Matteo;
Kara, Serhan;
Zange, Jochen;
Jordan, Jens;
Semler, Oliver;
Schönau, Eckhard;
Rittweger, Jörn;
Ireland, Alex;
Seefried, Lothar

Publication type:

Article

The efficacy and safety of different doses of calcitriol combined with neutral phosphate in X-linked hypophosphatemia: a prospective study.

Published in:

Osteoporosis International, 2022, v. 33, n. 6, p. 1385, doi. 10.1007/s00198-021-06221-w

By:

Jin, C.;
Zhang, C.;
Ni, X.;
Zhao, Z.;
Xu, L.;
Wu, B.;
Chi, Y.;
Jiajue, R.;
Jiang, Y.;
Wang, O.;
Li, Mei;
Xing, X.;
Meng, X.;
Xia, W.

Publication type:

Article

Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review.

Published in:

Osteoporosis International, 2021, v. 32, n. 10, p. 1937, doi. 10.1007/s00198-021-05997-1

By:

Giannini, S.;
Bianchi, M.L.;
Rendina, D.;
Massoletti, P.;
Lazzerini, D.;
Brandi, M.L.

Publication type:

Article

Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia.

Published in:

Osteoporosis International, 2021, v. 32, n. 9, p. 1825, doi. 10.1007/s00198-021-05875-w

By:

Jiménez, M.;
Ivanovic-Zuvic, D.;
Loureiro, C.;
Carvajal, C.A.;
Cavada, G.;
Schneider, P.;
Gallardo, E.;
García, C.;
Gonzalez, G.;
Contreras, O.;
Collins, M.T.;
Florenzano, P.

Publication type:

Article

Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review.

Published in:

Osteoporosis International, 2021, v. 32, n. 1, p. 7, doi. 10.1007/s00198-020-05548-0

By:

Seefried, L.;
Smyth, M.;
Keen, R.;
Harvengt, P.

Publication type:

Article

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.

Published in:

Osteoporosis International, 2017, v. 28, n. 10, p. 3023, doi. 10.1007/s00198-017-4150-9

By:

Kämpe, A.;
Costantini, A.;
Mäkitie, R.;
Jäntti, N.;
Valta, H.;
Mäyränpää, M.;
Kröger, H.;
Pekkinen, M.;
Taylan, F.;
Jiao, H.;
Mäkitie, O.

Publication type:

Article

A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid.

Published in:

Osteoporosis International, 2017, v. 28, n. 9, p. 2691, doi. 10.1007/s00198-017-4094-0

By:

Lv, F.;
Ma, M.;
Liu, W.;
Xu, X.;
Song, Y.;
Li, L.;
Jiang, Y.;
Wang, O.;
Xia, W.;
Xing, X.;
Qiu, Z.;
Li, M.

Publication type:

Article

Results from a first-in-human study of dersimelagon, an investigational oral selective MC1R agonist.

Published in:

European Journal of Clinical Pharmacology, 2023, v. 79, n. 6, p. 801, doi. 10.1007/s00228-023-03476-6

By:

Ogasawara, Akihito;
Ogawa, Kei;
Ide, Ryosuke;
Ikenaga, Yuka;
Fukunaga, Chie;
Nakayama, Satoshi;
Tsuda, Minoru

Publication type:

Article

Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.

Published in:

Bioinformatics, 2016, v. 32, n. 20, p. 3065, doi. 10.1093/bioinformatics/btw381

By:

Hsu, Jacob Shujui;
Kwan, Johnny S. H.;
Zhicheng Pan;
Garcia-Barcelo, Maria-Mercè;
Pak Chung Sham;
Miaoxin Li

Publication type:

Article

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 6, doi. 10.3390/ijns11010006

By:

Klippel, Claire;
Park, Jiwoon;
Sandin, Sean;
Winstone, Tara M. L.;
Chen, Xue;
Orton, Dennis;
Singh, Aranjeet;
Hill, Jonathan D.;
Shahbal, Tareq K.;
Hamacher, Emily;
Officer, Brandon;
Thompson, John;
Duong, Phi;
Grotzer, Tim;
Hahn, Si Houn

Publication type:

Article

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 29, doi. 10.3390/ijns8020029

By:

Baker, Craig V.;
Cady Keller, Alyssa;
Lutz, Richard;
Eveans, Karen;
Baumert, Krystal;
DiPerna, James C.;
Rizzo, William B.

Publication type:

Article

Genetic disease testing.

Published in:

Medical Laboratory Observer (MLO), 2024, v. 56, n. 8, p. 34

By:

Dash, Bipin Chandra

Publication type:

Article

X chromosome regulation: diverse patterns in development, tissues and disease.

Published in:

Nature Reviews Genetics, 2014, v. 15, n. 6, p. 367, doi. 10.1038/nrg3687

By:

Deng, Xinxian;
Berletch, Joel B.;
Nguyen, Di K.;
Disteche, Christine M.

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

Cytokeratin and protein expression patterns i squamous cell carcinoma of the oral cavity provide evidence for two distinct pathogenetic pathways.

Published in:

Oncology Letters, 2016, v. 12, n. 1, p. 107, doi. 10.3892/ol.2016.4588

By:

FROHWITTER, GESCHE;
BUERGER, HORST;
VAN DIEST, PAUL J.;
KORSCHING, EBERHARD;
KLEINHEINZ, JOHANNES;
FILLIES, THOMAS

Publication type:

Article

Do X-linked diseases affect periodontal health?

Published in:

Periodontology 2000, 2013, v. 61, n. 1, p. 266, doi. 10.1111/j.1600-0757.2012.00441.x

By:

Chien, Hua‐Hong;
Hart, Thomas C.

Publication type:

Article

Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville.

Published in:

Pediatric Allergy & Immunology, 2016, v. 27, n. 1, p. 70, doi. 10.1111/pai.12501

By:

Felipe, Beatriz;
Olbrich, Peter;
Lucenas, José Manuel;
Delgado‐Pecellin, Carmen;
Pavon‐Delgado, Antonio;
Marquez, Josefina;
Salamanca, Carmen;
Soler‐Palacin, Pere;
Gonzalez‐Granado, Luis Ignacio;
Antolin, Laura Ferreras;
Borte, Stephan;
Neth, Olaf

Publication type:

Article

Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.

Published in:

Clinical Kidney Journal, 2025, v. 18, n. 1, p. 1, doi. 10.1093/ckj/sfae356

By:

Liu, Xinyu;
Zhang, Qian;
Cao, Kexin;
Li, Jie;
Gao, Yuan;
Xu, Peiwen;
Niu, Yuping;
Zhou, Wei;
Ni, Tianxiang;
Sun, Shuzhen;
Yan, Junhao

Publication type:

Article

Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis.

Published in:

Clinical Kidney Journal, 2021, v. 14, n. 4, p. 1136, doi. 10.1093/ckj/sfaa065

By:

Ortiz, Alberto;
Kanters, Steve;
Hamed, Alaa;
DasMahapatra, Pronabesh;
Poggio, Eugene;
Maski, Manish;
Aguiar, Mario;
Ponce, Elvira;
Jansen, Jeroen P;
Ayers, Dieter;
Goldgrub, Rachel;
Desnick, Robert J

Publication type:

Article

Genetic testing can resolve diagnostic confusion in Alport syndrome.

Published in:

Clinical Kidney Journal, 2014, v. 7, n. 2, p. 197, doi. 10.1093/ckj/sft144

By:

Adam, Jennifer;
Connor, Thomas M. F.;
Wood, Katrina;
Lewis, David;
Naik, Ramesh;
Gale, Daniel P.;
Sayer, John A.

Publication type:

Article

#67 Treatment of Campylobacter upsaliensis and Helicobacter canis in twin brothers with XLA.

Published in:

Journal of the Pediatric Infectious Diseases Society, 2022, v. 11, p. S9, doi. 10.1093/jpids/piac041.036

By:

Dubois, Melanie M

Publication type:

Article

4-Year-Old Boy With an Unusual Bacterial Meningitis Infection.

Published in:

Journal of the Pediatric Infectious Diseases Society, 2019, v. 8, n. 3, p. 282, doi. 10.1093/jpids/piy096

By:

Searns, Justin;
Cataldi, Jessica R;
McCormack, Katherine;
Simões, Eric;
Messacar, Kevin;
Dominguez, Samuel R

Publication type:

Article

Infectious Complications in Patients With Chronic Granulomatous Disease.

Published in:

Journal of the Pediatric Infectious Diseases Society, 2018, v. 7, p. S12, doi. 10.1093/jpids/piy013

By:

Bennett, Nicholas;
Maglione, Paul J.;
Wright, Benjamin L.;
Zerbe, Christa

Publication type:

Article

From Fatal to Chronic Granulomatous Diseases of Childhood.

Published in:

Journal of the Pediatric Infectious Diseases Society, 2018, v. 7, p. S1, doi. 10.1093/jpids/piy012

By:

Quie, Paul G.

Publication type:

Article

Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female.

Published in:

Case Reports in Neurological Medicine, 2013, p. 1, doi. 10.1155/2013/491790

By:

Skuladottir Jack, Gyda Hlin;
Malm-Willadsen, Karolina;
Frederiksen, Anja;
Glintborg, Dorte;
Andersen, Marianne

Publication type:

Article

Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient.

Published in:

Case Reports in Neurological Medicine, 2013, p. 1, doi. 10.1155/2013/243652

By:

Koros, Christos;
Evangelopoulos, Maria-Eleftheria;
Kilidireas, Costas;
Andreadou, Elisabeth

Publication type:

Article

Total leukoderma and leukotrichia in a child after hematopoietic SCT: report of a case and review of the literature.

Published in:

Bone Marrow Transplantation, 2014, v. 49, n. 3, p. 460, doi. 10.1038/bmt.2013.200

By:

Nambudiri, V E;
Tsiaras, W G;
Schmidt, B A;
Huang, J T

Publication type:

Article

Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.

Published in:

Clinical & Experimental Dermatology, 2022, v. 47, n. 12, p. 2342, doi. 10.1111/ced.15355

By:

Martinez‐Falero, Beatriz Suarez;
Koutalopoulou, Anastasia;
Douglas, Andrew G. L.;
Kharbanda, Mira;
Collinson, Morag N.;
Lotery, Andrew;
Lotery, Helen

Publication type:

Article

Aarskog–Scott syndrome and atopic dermatitis successfully treated with dupilumab: a casual presentation?

Published in:

Clinical & Experimental Dermatology, 2022, v. 47, n. 2, p. 452, doi. 10.1111/ced.14924

By:

Calabrese, G.;
Licata, G.;
Buononato, D.;
Gambardella, A.;
De Rosa, A.;
Argenziano, G.

Publication type:

Article

Microphthalmia with linear skin defects (MLS) syndrome: familial presentation.

Published in:

2018

By:

Kumar, P.;
Rajab, A.

Publication type:

Case Study

A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl.

Published in:

Clinical & Experimental Dermatology, 2018, v. 43, n. 1, p. 60, doi. 10.1111/ced.13241

By:

Lei, K.;
Zhang, Y.;
Dong, Z.;
Sun, Y.;
Yi, Z.;
Chen, Z.

Publication type:

Article

X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.

Published in:

2020

By:

Xu, Tao;
Zhao, Qin;
Li, Wenyan;
Chen, Xuemei;
Xue, Xiuhong;
Chen, Zhi;
Du, Xiao;
Bai, Xiaoming;
Zhao, Qian;
Zhou, Lina;
Tang, Xuemei;
Yang, Xi;
Kanegane, Hirokazu;
Zhao, Xiaodong

Publication type:

journal article

Three cases with L1 syndrome and two novel mutations in the L1CAM gene.

Published in:

2015

By:

Marín, Rosario;
Ley-Martos, Miriam;
Gutiérrez, Gema;
Rodríguez-Sánchez, Felicidad;
Arroyo, Diego;
Mora-López, Francisco;
Marín, Rosario;
Gutiérrez, Gema;
Rodríguez-Sánchez, Felicidad;
Mora-López, Francisco

Publication type:

journal article

Incontinentia pigmenti (Bloch-Siemens syndrome).

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 8, p. 1137, doi. 10.1007/s00431-013-1982-y

By:

Zhang, Yaqin;
Pyla, Venkatesh;
Cong, Xianling

Publication type:

Article

Genodermatoses caused by genetic mosaicism.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 12, p. 1725, doi. 10.1007/s00431-012-1855-9

By:

Vreeburg, M.;
Steensel, M.

Publication type:

Article

A young boy with diffuse hyperpigmentation and delayed puberty.

Published in:

2011

By:

Xian-Ling Wang;
Yi-Ming Mu;
Jing-Tao Dou;
Zhao-Hui Lü;
Bao-An Wang;
Ju-Ming Lu;
Chang-Yu Pan;
Wang, Xian-Ling;
Mu, Yi-Ming;
Dou, Jing-Tao;
Lü, Zhao-Hui;
Wang, Bao-An;
Lu, Ju-Ming;
Pan, Chang-Yu

Publication type:

journal article

Hearing impairment in familial X-linked hypophosphatemic rickets.

Published in:

2004

By:

Fishman, Gadi;
Miller-Hansen, Denise;
Jacobsen, Cynthia;
Singhal, Virender K.;
Alon, Uri S.

Publication type:

journal article

Gene Therapy for Primary Immunodeficiencies: Current Status and Future Prospects.

Published in:

2014

By:

Qasim, Waseem;
Gennery, Andrew

Publication type:

Journal Article

Identification of Potential Genes in Pathogenesis and Diagnostic Value Analysis of Partial Androgen Insensitivity Syndrome Using Bioinformatics Analysis.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.731107

By:

Peng, Yajie;
Zhu, Hui;
Han, Bing;
Xu, Yue;
Liu, Xuemeng;
Song, Huaidong;
Qiao, Jie

Publication type:

Article

Wiskott–Aldrich syndrome: Two case reports with a novel mutation.

Published in:

Pediatric Hematology & Oncology, 2017, v. 34, n. 5, p. 286, doi. 10.1080/08880018.2017.1397072

By:

Kamuran, Karaman;
Çetin, Mecnun;
Geylan, Hadi;
Karaman, Serap;
Demir, Nihat;
Yurekturk, Eyyup;
Yavuz, İbrahim;
Yavuz, Göknur;
Tuncer, Oğuz

Publication type:

Article

Role of Mecp2 in Experience-Dependent Epigenetic Programming.

Published in:

Genes, 2015, v. 6, n. 1, p. 60, doi. 10.3390/genes6010060

By:

Zimmermann, Christoph A.;
Hoffmann, Anke;
Raabe, Florian;
Spengler, Dietmar

Publication type:

Article

Topoisomerase II plays a role in dosage compensation in Drosophila.

Published in:

Transcription (2154-1264), 2013, v. 4, n. 5, p. 1, doi. 10.4161/trns.26185

By:

Cugusi, Simona;
Ramos, Edward;
Huiping Ling;
Ruth Yokoyama;
Luk, Kevin M.;
Lucchesi, John C.

Publication type:

Article

Anti-Adipogenic Activity of Rhaponticum carthamoides and Its Secondary Metabolites.

Published in:

Nutrients, 2023, v. 15, n. 13, p. 3061, doi. 10.3390/nu15133061

By:

Todorova, Velislava;
Savova, Martina S.;
Ivanova, Stanislava;
Ivanov, Kalin;
Georgiev, Milen I.

Publication type:

Article

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 93, doi. 10.2147/TACG.S165799

By:

Carneiro, Thaise NR;
Krepischi, Ana CV;
Costa, Silvia S;
Silva, Israel Tojal da;
Vianna-Morgante, Angela M;
Valieris, Renan;
Ezquina, Suzana AM;
Bertola, Debora R;
Otto, Paulo A;
Rosenberg, Carla

Publication type:

Article