Children with a rare congenital genetic disorder: a systematic review of parent experiences by Charlotte von der Lippe, Ingrid Neteland, Kristin Billaud Feragen

Subjects: “…Rare genetic disorder…”
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Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis by Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy

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Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia by Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam

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New Challenges with Treatment Advances in Newborn Infants with Genetic Disorders and Severe Congenital Malformations by Rahel Schuler, Ivonne Bedei, Frank Oehmke, Klaus-Peter Zimmer, Harald Ehrhardt

Subjects: “…genetic disorders…”
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Olfactory Agenesis in Kallmann Syndrome (KS) by Sahana Shetty, Nitin Kapoor, Reetu Amritha John, Thomas Vizhalil Paul

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Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome) by Haji Mohammed Nazir, Akshiitha Ramesh Baabhu, Yuvaraj Muralidharan, Seena Cheppala Rajan

“…In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic disorder. He had a characteristic facial appearance with a large head, large eyes, thin nose with beaked tip, small chin, protruding ears, prominent scalp veins, and absence of hair.…”
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GENETIC DISORDERS OF RED CELL GLYCOLYSIS : A REVIEW FROM THE MOLECULAR TO CLINICAL AND THERAPEUTIC APROACHES by SOPHIA DELICOU, THEONI KANELLOPOULOU, CHRYSSANTHI KONTAXI, ARGIRI VLACHOPOULOU, ZOI PALANTZA, KONSTANTINOS MARAGKOS

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The prevalence and genetic disorders spectrum of thalassemia among breast cancer patients in Jiangxi province, China by Jingxian Ding, Zhaohui Huang, Xiaoliu Jiang, Qingge Li, Yali Cao, Yonghong Guo

“…Background: Thalassemia is a common inherited hematological disease with genetic disorders characterized by imbalanced synthesis of the globin chains. …”
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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders by Kristen M. Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L. Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft

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Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre by Jayesh Sheth, Aadhira Nair, Frenny Sheth, Manali Ajagekar, Tejasvi Dhondekar, Inusha Panigrahi, Ashish Bavdekar, Sheela Nampoothiri, Chaitanya Datar, Ajit Gandhi, Mamta Muranjan, Anupriya Kaur, Manisha Desai, Mehul Mistri, Chitra Patel, Premal Naik, Maulin Shah, Koumudi Godbole, Seema Kapoor, Neerja Gupta, Sunita Bijarnia-Mahay, Sandeep Kadam, Dhaval Solanki, Soham Desai, Anand Iyer, Ketan Patel, Harsh Patel, Raju C. Shah, Shalmi Mehta, Ruchi Shah, Riddhi Bhavsar, Jhanvi Shah, Mili Pandya, Bhagyadhan Patel, Sudhir Shah, Heli Shah, Shalin Shah, Shruti Bajaj, Siddharth Shah, Nilam Thaker, Umesh Kalane, Mahesh Kamate, Vykunta Raju KN, Naresh Tayade, Sujatha Jagadeesan, Deepika Jain, Mitesh Chandarana, Jitendra Singh, Sanjiv Mehta, Beena Suresh, Harsh Sheth

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A case report of Larsen syndrome – A rare genetic disorder affecting the musculoskeletal system by Krishnendu R. Nair, Sreeja Sreedharan, Naveen P. Gopinath, Sibin Surendran, Gopinathan Patinharayil, V.V. Muhammed Fazil, S. Ram Sudhan, Jijulal C U

“…Background: Larsen syndrome is an extremely rare genetic disorder with craniofacial abnormalities, and multiple dislocations of large joints. …”
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Associations and Disease–Disease Interactions of COVID-19 with Congenital and Genetic Disorders: A Comprehensive Review by Altijana Hromić-Jahjefendić, Debmalya Barh, Cecília Horta Ramalho Pinto, Lucas Gabriel Rodrigues Gomes, Jéssica Lígia Picanço Machado, Oladapo Olawale Afolabi, Sandeep Tiwari, Alaa A. A. Aljabali, Murtaza M. Tambuwala, Ángel Serrano-Aroca, Elrashdy M. Redwan, Vladimir N. Uversky, Kenneth Lundstrom

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Case report: Artemis deficiency and 3M syndrome—coexistence of two distinct genetic disorders by Ayca Ceylan, Ilyas Emre Tekdemir, Nadir Kocak, Ivan Kingyue Chinn, Jordan Scott Orange, Hasibe Artac

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Congenital Insensitivity to Pain with Anhidrosis (CIPA) Syndrome; A Rare Genetic Disorder Case Story by Zahra Nafei, Marjan Jafari

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Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system by Julien Bermudez, Nadia Nathan, Benjamin Coiffard, Antoine Roux, Sandrine Hirschi, Tristan Degot, Vincent Bunel, Jérôme Le Pavec, Julie Macey, Aurélie Le Borgne, Marie Legendre, Vincent Cottin, Pascal-Alexandre Thomas, Raphaël Borie, Martine Reynaud-Gaubert

“…Background Interstitial lung disease associated with genetic disorders of the surfactant system is a rare entity in adults that can lead to lung transplantation. …”
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Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center by Danhua Guo, Shuqiong He, Na Lin, Yifang Dai, Ying Li, Liangpu Xu, Xiaoqing Wu

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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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The clinical impact of mRNA therapeutics in the treatment of cancers, infections, genetic disorders, and autoimmune diseases by Roham Deyhimfar, Mehrnaz Izady, Mohammadreza Shoghi, Mohammad Hossein Kazazi, Zahra Fakhraei Ghazvini, Hojjatollah Nazari, Zahra Fekrirad, Ehsan Arefian

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The agrin/muscle-specific kinase pathway: new targets for autoimmune and genetic disorders at the neuromuscular junction. by Liyanage, Y, Hoch, W, Beeson, D, Vincent, A

Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl by Maria Grazia Pappalardo, Alessandra Di Nora, Andrea Giugno, Concetta Meli, Annamaria Sapuppo, Piero Pavone, Agata Fiumara

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