Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder? by Ihor V. Yosypiv

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Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran by Nafiseh Todarbary, Abouzar Irandegani, Mojtaba Meshkat, Aida Gholoobi, Tayebeh Hamzehloei

Subjects: “…Genetic disorders…”
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Correction: Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran by Nafseh Todarbary, Abouzar Irandegani, Mojtaba Meshkat, Aida Gholoobi, Tayebeh Hamzehloei

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Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol by Amali Mallawaarachchi, Hugh McCarthy, Thomas A. Forbes, Kushani Jayasinghe, Chirag Patel, Stephen I. Alexander, Tiffany Boughtwood, Jeffrey Braithwaite, Aron Chakera, Sam Crafter, Ira W. Deveson, Randall Faull, Trudie Harris, Lilian Johnstone, Matthew Jose, Anna Leaver, Melissa H. Little, Daniel MacArthur, Tessa Mattiske, Christine Mincham, Kathy Nicholls, Catherine Quinlan, Michael C. J. Quinn, Gopala Rangan, Jessica Ryan, Cas Simons, Ian Smyth, Madhivanan Sundaram, Peter Trnka, Laura Wedd, Erik Biros, Zornitza Stark, Andrew Mallett

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Adult hypophosphatasia presenting with recurrent acute joint pain by Hayao Yoshida, Takaaki Murakami, Atsubumi Ogawa, Takashi Sunouchi, Naoko Hidaka, Nobuaki Ito, Hiromi Murakami, Hidenori Kawasaki, Tomoyuki Akiyama, Katsumi Nakajima, Daisuke Yabe, Taizo Yamamoto

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Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity by Nouh AH, Elgendy FM, Gobran FA, Zhuravlova MS

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Structural Variation of Element and Human Disease by Songmi Kim, Chun-Sung Cho, Kyudong Han, Jungnam Lee

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Investigating knowledge and attitudes toward genetic testing and counseling among palestinians by Mustafa Ghanim, Maha Rabayaa, Malik Alqub, Ahmad Hanani, Mohammad Abuawad, Belal Rahhal, Shurouq Qadous, Myassar Barahmeh, Sameeha Atout, Saad Al-Lahham, Aseel Aref, Majdi Dwikat, Samar Alkhaldi, Ahmad Makhamreh

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A systematic literature review to evaluate the cardiac and cerebrovascular outcomes of patients with Fabry disease treated with agalsidase Beta by Gavin Y. Oudit, Gavin Y. Oudit, Pronabesh DasMahapatra, Nicole Lyn, Florence R. Wilson, Adekemi Adeyemi, Chae Sung Lee, Ana Crespo, Mehdi Namdar

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Neuromuscular diseases: genomics-driven advances by Anna Cho

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Machine learning and facial recognition for down syndrome detection: A comprehensive review by Khosro Rezaee

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Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention by Meir Lotan, Bruria Ben-Zeev

“…Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome. …”
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Jacobsen syndrome associated with Shone’s complex: a case report by Andressa Brum, Larissa Valéria Laskoski, Fabiana Gonçalves de Oliveira Azevedo Matos, Luciana Paula Grégio d’Arce

“…ABSTRACT Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder. Case description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. …”
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Steatocystoma Multiplex: “Keep me in your Differentials” by Sudha Sharma, V. Anish Chandran, Praveen Kumar Shukla, Ajay Kumar

“…Steatocystoma multiplex (SM) is a rare autosomal dominant genetic disorder, seen in adolescence and characterized by hamartomatous malformation of the pilosebaceous units. …”
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Idiopathic Gingival Hyperplasia: A Case Report with a 17-Year Followup by Bien Lai, Joseph Muenzer, Michael W. Roberts

“…This is a case report of a patient with idiopathic gingival hyperplasia and an undiagnosed genetic disorder that demonstrated static encephalopathy, mental retardation, developmental delay, seizures, hypotonia, and severe gingival hypertrophy. …”
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Rehabilitation of Ectodermal Dysplasia Using CAD/CAM Mandibular Complete Denture and Maxillary Overdenture: A Clinical Report by Hatem Alqarni, Faisal Alzeghaibi, Sahar Alotaibi, Raghad Alamri, Raghad Aljohani, Majed S. Altoman, Mohammed A. Alfaifi

“…Ectodermal dysplasia is a genetic disorder characterized by the abnormal development of two or more ectodermally driven structures, leading to various clinical manifestations such as sparse hair, dry skin, and hypodontia or anodontia. …”
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Epilepsy and preventive antiepileptic treatment in tuberous sclerosis complex. Literature review by I. Kasiulevičiūtė

“… Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the presence of benign tumors in many organs. …”
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Oral Squamous Cell Carcinoma in a Patient with Fanconi Anemia by Milla Huuhka, Aaro Turunen

“…Fanconi anemia (FA) is a rare autosomal recessive genetic disorder characterized by different types of malformations, skin lesions, bone marrow failure, and increased risk for both hematological malignancies and solid tumors, especially head and neck squamous cell carcinomas (HNSCC). …”
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Marfan Syndrome: Regarding Two Cases by Elsy Roxana Geroy Moya, María Quiñones Hernández, Anaelys Acosta Hernández

“…Marfan syndrome is an autosomal dominant genetic disorder, with a prevalence of 1 every 5,000-10,000 newborns, so it is classified as an uncommon disease. …”
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Fibrodysplasia Ossificans Progressiva and Pregnancy: A Case Series and Review of the Literature by Alexandra D. Forrest, Danielle M. Vuncannon, Jane E. Ellis, Zvi Grunwald, Frederick S. Kaplan

“…To evaluate maternal and fetal outcomes in pregnant patients with fibrodysplasia ossificans progressiva (FOP; OMIM#135100), an ultrarare genetic disorder characterized by progressive heterotopic ossification of soft tissues and cumulative disability. …”
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