Results 21 to 30 of about 554,004 (364)

Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis [PDF]

Anais Brasileiros de Dermatologia, 2014
Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented ...
Gabriela Franco Marques, Claudio Sampieri Tonello, Juliana Martins Prazeres Sousa   +2 more
doaj   +2 more sources

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

Molecular Genetics & Genomic Medicine, 2021
Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease‐specific therapies when available.
D. Germain, S. Moiseev, F. Suárez-Obando, Faisal Al Ismaili, Huda Al Khawaja, G. Altarescu, F. Barreto, F. Haddoum, F. Hadipour, I. Maksimova, Mirelle Kramis, S. Nampoothiri, K. N. Nguyen, D. Niu, J. Politei, L. Ro, D. Vu Chi, N. Chen, S. Kutsev   +18 more
semanticscholar   +1 more source

Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype

Molecular Genetics & Genomic Medicine, 2023
Background Dystrophinopathies are X‐linked recessive conditions caused by pathogenic variants in the dystrophin (DMD) gene. In a family that included two boys with Becker muscular dystrophy (BMD) due to a DMD deletion of exons 45–47, maternal carrier ...
Elizabeth A. Ulm, Chinmayee B. Nagaraj, Cuixia Tian, Teresa A. Smolarek   +3 more
doaj   +1 more source

Incomplete Partition Type III: Computed Tomography Features and Cochlear Implantation Complications

Oman Medical Journal, 2021
In this case report, we review a male child who presented with severe bilateral hearing loss. Preoperative high-resolution computed tomography (HRCT) evaluation facilitated the initial diagnosis of the disease, which revealed typical findings of cochlear
Raya Salim Al-Busaidi, Salwa Jaffar Habib, Ammar Mohsin Al-Lawati, Khalid M. W. Tahhan, Yousuf Ali Al-Saidi   +4 more
doaj   +1 more source

Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders

BMC Medical Genomics, 2022
Background Founder populations that have recently undergone important genetic bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some pathogenic variants at a higher carrier rate than the general population, putting them at a higher risk ...
Philippe Pierre Robichaud, Eric P. Allain, Sarah Belbraouet, Claude Bhérer, Jean Mamelona, Jason Harquail, Stéphanie Crapoulet, Nicolas Crapoulet, Mathieu Bélanger, Mouna Ben Amor   +9 more
doaj   +1 more source

Genetic Heterogeneity in Patients with X-Linked Recessive Chronic Granulomatous Disease [PDF]

Pediatric Research, 1992
Genetic heterogeneity in 12 patients from 11 different families with X-linked recessive chronic granulomatous disease was studied by Southern blot analysis using cytochrome b heavy-chain cDNA as a probe. We found the abnormal restriction length fragment patterns of the cytochrome b heavy-chain gene in three families, which were not observed in healthy ...
T, Ariga, M, Nakanishi, K, Tomizawa, S, Imajoh-Ohmi, S, Kanegasaki, Y, Sakiyama, S, Matsumoto   +6 more
openaire   +2 more sources

X-linked agammaglobulinemia with bronchiectasis and infection： a case report [PDF]

Zhenduanxue lilun yu shijian
X-linked agammaglobulinemia (XLA) is a rare disease characterized by severe hypogammaglobulinemia, antibody deficiency, and recurrent infections. This study reports a case of X-linked agammaglobulinemia combined with bronchiectasis and infection.
LIN Jiayuan, CHENG Qijian, CHEN Ling
doaj   +1 more source

Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18

Frontiers in Immunology, 2022
Review: Interleukin-18 (IL-18) is a proinflammatory cytokine that promotes various innate immune processes related to infection, inflammation, and autoimmunity.
Hanae Miyazawa, Taizo Wada
doaj   +1 more source

Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection

Scientific Reports, 2022
Autologous cell replacement therapy for inherited metabolic disorders requires the correction of the underlying genetic mutation in patient’s cells. An unexplored alternative for females affected from X-linked diseases is the clonal selection of cells ...
Ramon Santamaria, Maria Ballester, Guillem Garcia-Llorens, Francisco Martinez, Marina Blazquez, Carmen Ribes-Koninckx, Jose V. Castell, Torsten Wuestefeld, Roque Bort   +8 more
doaj   +1 more source

Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1

Frontiers in Pediatrics, 2021
Herein, we present a rare case of co-occurring Duchenne muscular dystrophy (DMD) and frontometaphyseal dysplasia 1 (FMD1), two different X-linked diseases, in a 7-year-old boy.
Jaewon Kim, Dong-Woo Lee, Ja-Hyun Jang, Myungshin Kim, Jisook Yim, Dae-Hyun Jang   +5 more
doaj   +1 more source