Sex Selection – Cultural and Ethical Issues by Jaideep Malhotra

“…At first glance, such a practice seems quite justifiable as the technology enables parents to avoid having disabled children and serious genetic disorders and maintain balance in the family structure. …”
Get full text

Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia by Penelope J. Ireland, Ravi Savarirayan, Tash Pocovi, Tracy Tate, Marie Coussens, Louise Tofts, Craig Munns, Verity Pacey

“…Abstract Background Skeletal dysplasia are genetic disorders of cartilage and bone, characterized by impairments commonly resulting in short stature, altered movement biomechanics, pain, fatigue and reduced functional performance. …”
Get full text

Identification of the molecular partners that regulate MEIS1A function by Ravishankar Chandrasekaran

“…In addition, Meis1 has been implicated in genetic disorders like restless leg syndrome. MEIS1 functions upstream of many target genes to regulate their expression. …”
Get full text

Parent-of-origin effects in SOX2 anophthalmia syndrome. by Osborne, R, Kurinczuk, J, Ragge, N

“…In keeping with several genetic disorders, we found that SOX2 mutations were associated with older parental age and the difference was statistically significant for mothers (p=0.05), whereas, although not statistically significant, SOX2 deletion cases had younger parents. …”

Allosteric contributions of muscle nicotinic acetylcholine receptor residues in small-molecule interactions, disease and subunit assembly by Epstein, M

“…The interference of this process as a result of organophosphorus nerve agent (OPNA) exposure or from genetic disorders such as congenital myasthenic syndrome (CMS) can therefore have deleterious consequences.…”

From genes to brain development to phenotypic behavior: "dorsal-stream vulnerability" in relation to spatial cognition, attention, and planning of actions in Williams syndrome (WS)... by Atkinson, J, Braddick, O

“…Since these initial findings in WS, deficits of motion coherence sensitivity, a dorsal-stream function has been found in other genetic disorders such as Fragile X and autism, and as a consequence of perinatal events (in hemiplegia, perinatal brain anomalies following very premature birth), leading to the proposal of a general "dorsal-stream vulnerability" in many different conditions of abnormal human development. …”

Regular long-term red blood cell transfusions for managing chronic chest complications in sickle cell disease (Review) by Estcourt, L, Fortin, P, Hopewell, S, Trivella, M, Hambleton, I, Cho, G

“…</p> <h4>Search Methods</h4> <p>We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group’s Haemoglobinopathies Trials Register. …”

Congenital myasthenic syndromes in childhood: diagnostic and management challenges. by Kinali, M, Beeson, D, Pitt, M, Jungbluth, H, Simonds, A, Aloysius, A, Cockerill, H, Davis, T, Palace, J, Manzur, A, Jimenez-Mallebrera, C, Sewry, C, Muntoni, F, Robb, SA

“…The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. …”

Dynamics of epigenetic control on transgene expression mediated by lentivirus in mouse pluripotent stem cells by Alhaji, Suleiman Yusuf

“…These findings could potentially be beneficial in the application of iPS-derived cells for prolonged therapeutic gene expression and could be translated in clinic for a persistent correction of genetic disorders using gene therapy technology in the future.…”
Get full text

Health-related quality of life among haemophilia children in Hospital Universiti Sains Malaysia by Nabir, Azie Jumaatul Adawiyah

“…Background Haemophilia is one of the most common genetic disorders in the world. It is caused by factor VIII deficiency in haemophilia A and factor IX deficiency in haemophilia B. …”
Get full text

Prevalence of beta thalassaemia/beta haemoglobin variant among thalassaemia screening in Hospital Tengku Ampuan Rahimah (HTAR), Klang by Mohyee, Norlyiyana

“…Introduction: Thalassaemia is the most common genetic disorders among population living in the Southeast Asia. …”
Get full text

Genetic literacy among primary care physicians in a resource-constrained setting by Pascale E. Karam, Lina Hamad, Mohamed Elsherif, Khalil Kreidieh, Ghunwa Nakouzi, Khalil El Asmar, Tamar Kabakian-Khasholian, Dany Assaf Curi, Soha N. Yazbek

“…Lebanon is a small country in this region characterized by high rates of consanguinity and genetic disorders like several surrounding countries, such as Jordan, Syria, and Turkey. …”
Get full text

Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature by Sally Badawi, Divya Saro Varghese, Anjana Raj, Anne John, Hamda S. Al-Musafir, Ahmed J. Al-Ghamari, Alreem R. Alshamsi, Sara H. Ouda, Ghayth Al-Dirbashi, Bassam R. Ali, Bassam R. Ali

“…This study enhances our understanding of the functional consequences of several NPR2 variants, shedding light on their mechanisms and roles in related genetic disorders which might also help in their pathogenicity re-classification.…”
Get full text

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis by Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts

“…Like for other rare genetic disorders, implementation of Next Generation Sequencing (NGS) technologies has greatly facilitated genetic diagnostics and counseling over the last years. …”
Get full text

Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases by Gabriella Cadoni, Guido Primiano, Pasqualina M. Picciotti, Rosalinda Calandrelli, Jacopo Galli, Serenella Servidei, Guido Conti

“…Mitochondrial diseases (MDs) are heterogeneous genetic disorders characterized by mitochondrial DNA (mtDNA) defects, involving tissues highly dependent on oxidative metabolism: the inner ear, brain, eye, skeletal muscle, and heart. …”
Get full text

Functional Independence of Taiwanese Children with Osteogenesis Imperfecta by Yu-Min Syu, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

“…Osteogenesis imperfecta (OI) is a group of rare genetic disorders that affect bone formation. Patients with OI present mainly with increased bone fragility and bone deformities. …”
Get full text

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals by C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros, V. dos Reis Ferreira

“…Abstract Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences. …”
Get full text

Primary Immunodeficiencies in Russia: Data From the National Registry by Anna A. Mukhina, Natalya B. Kuzmenko, Yulia A. Rodina, Irina V. Kondratenko, Andrei A. Bologov, Tatiana V. Latysheva, Andrei P. Prodeus, Alexander N. Pampura, Dmitrii N. Balashov, Natalya I. Ilyina, Elena A. Latysheva, Ekaterina A. Deordieva, Oksana A. Shvets, Elena V. Deripapa, Irina N. Abramova, Olga E. Pashenko, Svetlana S. Vahlyarskaya, Natalya V. Zinovyeva, Sergei B. Zimin, Elena V. Skorobogatova, Elena B. Machneva, Daria S. Fomina, Daria S. Fomina, Maria G. Ipatova, Ludmila Yu. Barycheva, Ludmila Yu. Barycheva, Ludmila S. Khachirova, Irina A. Tuzankina, Michail A. Bolkov, Natalya V. Shakhova, Elena M. Kamaltynova, Elena M. Kamaltynova, Elena M. Kamaltynova, Farida I. Sibgatullina, Marina N. Guseva, Marina N. Guseva, Raisa N. Kuznetsova, Anzhelika M. Milichkina, Areg A. Totolian, Natalia M. Kalinina, Evgenia A. Goltsman, Ekatherina I. Sulima, Anastasia Yu. Kutlyanceva, Anna A. Moiseeva, Anna L. Khoreva, Zoya Nesterenko, Elena V. Tymofeeva, A. Ermakova, Dilyara D. Proligina, Linara R. Kalmetieva, Gulshat A. Davletbaieva, Irina A. Mirsayapova, Olga A. Richkova, Ksenia P. Kuzmicheva, Maria A. Grakhova, Natalya B. Yudina, Ekaterina A. Orlova, Olga S. Selezneva, Svetlana G. Piskunova, Tatiana V. Samofalova, Tatiana V. Bukina, Anna D. Pechkurova, N. Migacheva, A. Zhestkov, Elena V. Barmina, Natalya A. Parfenova, Svetlana N. Isakova, Elena V. Averina, Irina V. Sazonova, Svetlana Yu. Starikova, Tatiana V. Shilova, Tatiana V. Asekretova, Roman N. Suprun, Elena I. Kleshchenko, Vladimir V. Lebedev, Elena V. Demikhova, Valerii G. Demikhov, Veronica A. Kalinkina, Alla V. Gorenkova, Svetlana N. Duryagina, Tatiana B. Pavlova, Vera M. Shinkareva, Irina V. Smoleva, Tatiana P. Aleksandrova, Zema V. Bambaeva, Marina A. Philippova, Elena M. Gracheva, Galina I. Tcyvkina, Alexey V. Efremenkov, D. Mashkovskaya, Irina V. Yarovaya, Valentina A. Alekseenko, Ivan V. Fisyun, Galina V. Molokova, Ekatherina V. Troitskya, Ludmila I. Piatkina, Elena V. Vlasova, O. Ukhanova, O. Ukhanova, Ekaterina G. Chernishova, M. Vasilieva, Olga M. Laba, E. Volodina, Ekaterina V. Safonova, Kirill A. Voronin, Maria V. Gurkina, Alexander G. Rumyantsev, Galina A. Novichkova, Anna Yu. Shcherbina

“…Introduction: Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. …”
Get full text

The impact of disease severity on the psychological well-being of youth affected by an inborn error of metabolism and their families: A one-year longitudinal study by Nevena Dimitrova, Jennifer Glaus, Sébastien Urben, Valentine Wüthrich, Mathilde Morisod Harari, Diana Ballhausen

“…Background:Inborn errors of metabolism (IEMs) refer to rare heterogeneous genetic disorders with various clinical manifestations that can cause serious physical and psychological sequelae. …”
Get full text

Allele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models by Paweł Joachimiak, Adam Ciesiołka, Emilia Kozłowska, Paweł M. Świtoński, Grzegorz Figura, Agata Ciołak, Grażyna Adamek, Magdalena Surdyka, Żaneta Kalinowska-Pośka, Maciej Figiel, Nicholas S. Caron, Michael R. Hayden, Agnieszka Fiszer

“…Allelic imbalance is an aspect of gene expression relevant not only in the context of genetic variation, but also to understand the pathophysiology of genes implicated in genetic disorders, in particular, dominant genetic diseases where patients possess one normal and one mutant allele. …”
Get full text