Works about X-linked genetic disorders

Results: 743

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

Can fetal ultrasound predict adrenal hypoplasia congenita caused by Xp21 deletion?

Published in:

Journal of Obstetrics & Gynaecology Research, 2025, v. 51, n. 4, p. 1, doi. 10.1111/jog.16276

By:

Yokohama, Yuko;
Makita, Yoshio;
Oishi, Yuriko;
Nagaya, Ken;
Suzuki, Shigeru;
Kato, Yasuhito

Publication type:

Article

The role of persistent right umbilical vein in the diagnosis of fetal genetic syndromes.

Published in:

Journal of Obstetrics & Gynaecology Research, 2025, v. 51, n. 1, p. 1, doi. 10.1111/jog.16175

By:

Dizdaroğulları, Gizem Elif;
Demirci, Oya;
Ocal, Aydın;
Kahramanoğlu, Özge;
Akalın, Munip

Publication type:

Article

Placental mesenchymal dysplasia with a good outcome: A case report.

Published in:

Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 11, p. 2284, doi. 10.1111/jog.14095

By:

Oide, Shiho;
Kuwata, Tomoyuki;
Wang, Liangcheng;
Imai, Ken;
Chikazawa, Kenro;
Takagi, Kenjiro

Publication type:

Article

Questionnaire survey on association between preeclampsia and incontinentia pigmenti.

Published in:

Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 7, p. 1363, doi. 10.1111/jog.13983

By:

Sun, Xiaoyan;
Gao, Shichao;
Wang, Peichang;
Huang, Yu;
Si, Dayong

Publication type:

Article

L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease.

Published in:

2009

By:

Jackson, Sha-Ron;
Guner, Yigit S.;
Woo, Russell;
Randolph, Linda M.;
Ford, Henri;
Shin, Cathy E.

Publication type:

journal article

Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.

Published in:

Neuroradiology, 2022, v. 64, n. 3, p. 543, doi. 10.1007/s00234-021-02730-x

By:

Karavasilis, Efstratios;
Christidi, Foteini;
Pantou, Eirini;
Angelopoulou, Georgia;
Kasselimis, Dimitrios;
Breza, Marianthi;
Kontogeorgiou, Zoi;
Filippiadis, Dimitrios;
Potagas, Constantin;
Karadima, Georgia;
Koutsis, Georgios;
Velonakis, Georgios

Publication type:

Article

Pediatric Crohn Disease and Multisystem Inflammatory Syndrome in Children (MIS-C) and COVID-19 Treated With Infliximab.

Published in:

2020

By:

Dolinger, Michael T.;
Person, Hannibal;
Smith, Rachel;
Jarchin, Lauren;
Pittman, Nanci;
Dubinsky, Marla C.;
Lai, Joanne

Publication type:

journal article

Intact Regulatory T-Cell Function but Defective Generation of IL-17A-Producing CD4+ T Cells in XIAP Deficiency.

Published in:

2016

By:

Gurram, Bhaskar;
Hammelev, Erin;
Syverson, Grant;
Haribhai, Dipica;
Key Yan;
Simpson, Pippa;
Salzman, Nita;
Verbsky, James W.;
Yan, Key

Publication type:

journal 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

Musculoskeletal Issues in Children and Adolescents.

Published in:

FP Essentials, 2024, n. 544, p. 1

By:

Leggit, Jeffrey C.;
O'Connor, Francis G.;
Creech-Organ, Julie;
Yurgil, Jacqueline L.

Publication type:

Article

Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep03745

By:

Xiao Zhang;
Xianglian Ge;
Ying Yu;
Yilan Zhang;
Yaming Wu;
Yin Luan;
Ji Sun;
Jia Qu;
Zi-Bing Jin;
Feng Gu

Publication type:

Article

A frameshift variant in the EDA gene in Dachshunds with X‐linked hypohidrotic ectodermal dysplasia.

Published in:

Animal Genetics, 2018, v. 49, n. 6, p. 651, doi. 10.1111/age.12729

By:

Hadji Rasouliha, S.;
Bauer, A.;
Dettwiler, M.;
Welle, M. M.;
Leeb, T.

Publication type:

Article

Ruling out BGN variants as simple X‐linked causative mutations for bilateral corneal stromal loss in Friesian horses.

Published in:

Animal Genetics, 2018, v. 49, n. 6, p. 656, doi. 10.1111/age.12726

By:

Alberi, Coral;
Hisey, Erin;
Lassaline, Mary;
Atilano, Alyssa;
Kalbfleisch, Theodore;
Stoppini, Riccardo;
Hermans, Hanneke;
Back, Willem;
Mienaltowski, Michael J.;
Bellone, Rebecca R.

Publication type:

Article

Muscular dystrophy in the Japanese Spitz: an inversion disrupts the DMD and RPGR genes.

Published in:

Animal Genetics, 2015, v. 46, n. 2, p. 175, doi. 10.1111/age.12266

By:

Atencia‐Fernandez, Sabela;
Shiel, Robert E.;
Mooney, Carmel T.;
Nolan, Catherine M.

Publication type:

Article

Multiple promoters and targeted micro RNAs direct the expressions of HMGB 3 gene transcripts in dairy cattle.

Published in:

Animal Genetics, 2013, v. 44, n. 3, p. 241, doi. 10.1111/age.12007

By:

Li, Liming;
Huang, Jinming;
Ju, Zhihua;
Li, Qiuling;
Wang, Changfa;
Qi, Chao;
Zhang, Yan;
Hou, Qinlei;
Hang, Suqin;
Zhong, Jifeng

Publication type:

Article

Antiplatelet and invasive treatment in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency and acute coronary syndrome. The safety of aspirin.

Published in:

Journal of Clinical Pharmacy & Therapeutics, 2015, v. 40, n. 3, p. 349, doi. 10.1111/jcpt.12262

By:

Kafkas, N. V.;
Liakos, C. I.;
Mouzarou, A. 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

VEXAS syndrome through a rheumatologist's lens: insights from a Spanish national cohort.

Published in:

Rheumatology, 2025, v. 64, n. 6, p. 3747, doi. 10.1093/rheumatology/keaf094

By:

García-Escudero, Paula;
López-Gómez, Marta;
López, Berta Magallares;
Dorta, Alicia García;
Frade-Sosa, Beatriz;
Lizarzaburu, Meritxell Sallés;
Rúa-Figueroa, Íñigo;
Fiallo, Dolly Viviana;
Miera, Francisco Javier Toyos Sáenz de;
Melero-Gonzalez, Rafael Benito;
Santos, Diego Dios;
Miranda, José Alberto;
Belando, Clara García;
Boselli, Giuliano;
Boteanu, Alina Lucica;
Villalobos, Lourdes;
Selaya, Cristina Corrales;
Santos, Cristiana Sieiro;
Álvarez, Elvira Díez;
Font, Judit

Publication type:

Article

Acute kidney injury, an underrecognized feature of VEXAS syndrome.

Published in:

Rheumatology, 2025, v. 64, n. 3, p. 2027, doi. 10.1093/rheumatology/keae465

By:

Kalantari, Kambiz;
Sullivan, Megan M;
Hernandez, Loren P Herrera;
Bu, Lihong;
Cornell, Lynn D;
Nasr, Samih H;
Fervenza, Fernando C;
Montes, Daniel;
Mangaonkar, Abhishek A;
Go, Ronald S;
Kusne, Yael N;
Patnaik, Mrinal M;
Lasho, Terra L;
Olteanu, Horatiu;
Reichard, Kaaren K;
Warrington, Kenneth J;
Koster, Matthew J

Publication type:

Article

Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.

Published in:

Rheumatology, 2024, v. 63, n. 10, p. 2897, doi. 10.1093/rheumatology/keae201

By:

Cardona, Daniela Ospina;
Rodriguez-Pinto, Ignasi;
Iosim, Sonia;
Bonet, Nuria;
Mensa-Vilaro, Anna;
Wong, Mei-Kay;
Ho, Gary;
Tormo, Marc;
Yagüe, Jordi;
Shon, Wonwoo;
Wallace, Daniel J;
Casals, Ferran;
Beck, David B;
Abuav, Rachel;
Arostegui, Juan I

Publication type:

Article

Comparing clinical features between males and females with VEXAS syndrome: data from literature analysis of patient reports.

Published in:

Rheumatology, 2024, v. 63, n. 10, p. 2694, doi. 10.1093/rheumatology/keae123

By:

Echerbault, Robin;
Bourguiba, Rim;
Georgin-Lavialle, Sophie;
Lavigne, Christian;
Ravaiau, Camille;
Lacombe, Valentin

Publication type:

Article

Comment on: Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.

Published in:

Rheumatology, 2024, v. 63, n. 8, p. e231, doi. 10.1093/rheumatology/kead627

By:

Rogez, Juliette;
Ravaiau, Camille;
Lacombe, Valentin

Publication type:

Article

Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.

Published in:

Rheumatology, 2024, v. 63, n. 8, p. 2056, doi. 10.1093/rheumatology/kead425

By:

Maeda, Ayaka;
Tsuchida, Naomi;
Uchiyama, Yuri;
Horita, Nobuyuki;
Kobayashi, Satoshi;
Kishimoto, Mitsumasa;
Kobayashi, Daisuke;
Matsumoto, Haruki;
Asano, Tomoyuki;
Migita, Kiyoshi;
Kato, Ayaka;
Mori, Ichiro;
Morita, Hiroyuki;
Matsubara, Akihiro;
Marumo, Yoshiaki;
Ito, Yuji;
Machiyama, Tomoaki;
Shirai, Tsuyoshi;
Ishii, Tomonori;
Kishibe, Mari

Publication type:

Article

Challenging the paradigm: a case of early-onset VEXAS syndrome.

Published in:

Rheumatology, 2024, v. 63, n. 3, p. e99, doi. 10.1093/rheumatology/kead506

By:

Sánchez-Hernández, Beatriz E;
Calderón-Espinoza, Ivette;
Martín-Nares, Eduardo

Publication type:

Article

VEXAS syndrome complicated with severe infection.

Published in:

2022

By:

Shimizu, Toshimasa;
Ide, Hiroyuki;
Tsuji, Yoshika;
Koga, Tomohiro;
Kawakami, Atsushi

Publication type:

Case Study

Long non-coding RNA expression profiling of subchondral bone reveals AC005165.1 modifying FRZB expression during osteoarthritis.

Published in:

Rheumatology, 2022, v. 61, n. 7, p. 3023, doi. 10.1093/rheumatology/keab826

By:

Tuerlings, Margo;
Hoolwerff, Marcella van;
Bokkum, Jessica M van;
Suchiman, H Eka D;
Lakenberg, Nico;
Broekhuis, Demiën;
Nelissen, Rob G H H;
Ramos, Yolande F M;
Mei, Hailiang;
Cats, Davy;
Almeida, Rodrigo Coutinho de;
Meulenbelt, Ingrid

Publication type:

Article

VEXAS syndrome in a patient with previous spondyloarthritis with a favourable response to intravenous immunoglobulin and anti-IL17 therapy.

Published in:

2021

By:

Magnol, Marion;
Couvaras, Loukianos;
Degboé, Yannick;
Delabesse, Eric;
Bulai-Livideanu, Cristina;
Ruyssen-Witrand, Adeline;
Constantin, Arnaud

Publication type:

Case Study

Higher prevalence of non-skeletal comorbidity related to X-linked hypophosphataemia: a UK parallel cohort study using CPRD.

Published in:

Rheumatology, 2021, v. 60, n. 9, p. 4055, doi. 10.1093/rheumatology/keaa859

By:

Hawley, Samuel;
Shaw, Nick J;
Delmestri, Antonella;
Prieto-Alhambra, Daniel;
Cooper, Cyrus;
Pinedo-Villanueva, Rafael;
Javaid, M Kassim

Publication type:

Article

Atypical phenotype? The answer's in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency.

Published in:

Rheumatology, 2021, v. 60, n. 7, p. e240, doi. 10.1093/rheumatology/keab051

By:

Boulanger, Cécile;
Chatzis, Olga;
Nolf, Delphine;
Brichard, Bénédicte;
Lauwerys, Bernard;
Nassogne, Marie-Cécile;
Limaye, Nisha

Publication type:

Article

Corrigendum to: Higher prevalence of non-skeletal comorbidity related to X-linked hypophosphataemia: a UK parallel cohort study using CPRD.

Published in:

2021

By:

Hawley, Samuel;
Shaw, Nick J;
Delmestri, Antonella;
Prieto-Alhambra, Daniel;
Cooper, Cyrus;
Pinedo-Villanueva, Rafael;
Javaid, M Kassim

Publication type:

Correction Notice

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.

Published in:

Rheumatology, 2018, v. 57, n. 7, p. 1180, doi. 10.1093/rheumatology/key041

By:

Zikánová, Marie;
Wahezi, Dawn;
Hay, Arielle;
Stibůrková, Blanka;
Pitts, Charles;
Mušálková, Dita;
Škopová, Václava;
Barešová, Veronika;
Součková, Olga;
Hodaňová, Kateřina

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

A novel NHS mutation in a Chinese family with Nance-Horan Syndrome.

Published in:

Molecular Medicine Reports, 2019, v. 19, n. 5, p. 4419

By:

Wei, Meirong;
Qi, Anhui;
Mo, Haiming;
Wu, Kailin;
Ma, Xu;
Wang, Binbin

Publication type:

Article

X-linked ichthyosis and Crigler-Najjar syndrome?: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.

Published in:

Molecular Medicine Reports, 2016, v. 13, n. 2, p. 1135, doi. 10.3892/mmr.2015.4674

By:

JINLI BAI;
YUJIN QU;
YANYAN CAO;
YAN LI;
WENHUI ZHANG;
YUWEI JIN;
HONG WANG;
FANG SONG

Publication type:

Article

Maternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X-linked lymphoproliferative disease type 1: A case report.

Published in:

2015

By:

JINRONG LIU;
WENJUN TIAN;
FANG WANG;
WEN TENG;
YANG ZHANG;
CHUNRONG TONG;
CHONGLIN ZHANG;
YING JU;
BINGCHANG ZHANG;
SHUNYING ZHAO;
HONGXING LIU

Publication type:

Case Study

Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases.

Published in:

International Journal of Trichology, 2015, v. 7, n. 3, p. 125, doi. 10.4103/0974-7753.167461

By:

Malvankar, Dipali D.;
Sacchidanand, S.

Publication type:

Article

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability.

Published in:

Journal of Autism & Developmental Disorders, 2018, v. 48, n. 5, p. 1651, doi. 10.1007/s10803-017-3420-x

By:

Mori, Yuka;
Downs, Jenny;
Wong, Kingsley;
Heyworth, Jane;
Leonard, Helen

Publication type:

Article

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL).

Published in:

International Journal of Endocrinology, 2018, p. 1, doi. 10.1155/2018/8263136

By:

Kong, Lei;
Wang, Dongxu;
Li, Shanshan;
Zhang, Chengsheng;
Jiang, Xiuyun;
Guan, Qingbo;
Zhang, Zhenlin;
Jing, Fei;
Xu, Jin

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

Answer.

Published in:: Journal of Paediatrics & Child Health, 2014, v. 50, n. 11, p. 934, doi. 10.1111/jpc.12562_2
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

Persistent Unresolved Inflammation in the Mecp2-308 Female Mutated Mouse Model of Rett Syndrome.

Published in:

Mediators of Inflammation, 2017, p. 1, doi. 10.1155/2017/9467819

By:

Cortelazzo, Alessio;
De Felice, Claudio;
De Filippis, Bianca;
Ricceri, Laura;
Laviola, Giovanni;
Leoncini, Silvia;
Signorini, Cinzia;
Pescaglini, Monica;
Guerranti, Roberto;
Timperio, Anna Maria;
Zolla, Lello;
Ciccoli, Lucia;
Hayek, Joussef

Publication type:

Article

Bright tongue sign in Kennedy disease.

Published in:

QJM: An International Journal of Medicine, 2020, v. 113, n. 1, p. 45, doi. 10.1093/qjmed/hcz231

By:

Lin, X;
Wu, S

Publication type:

Article