Red cell genetic disorders: burden and selective pressures in Africa by Williams, T

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. by Stevenson, DA, Schill, L, Schoyer, L, Andresen, BS, Bakker, A, Bayrak-Toydemir, P, Burkitt-Wright, E, Chatfield, K, Elefteriou, F, Elgersma, Y, Fisher, MJ, Franz, D, Gelb, BD, Goriely, A, Gripp, KW, Hardan, AY, Keppler-Noreuil, KM, Kerr, B, Korf, B, Leoni, C, McCormick, F, Plotkin, SR, Rauen, KA, Reilly, K, Roberts, A, Sandler, A, Siegel, D, Walsh, K, Widemann, BC

“…In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field. � 2016 Wiley Periodicals, Inc.…”

Genetic Disorders of Human Haemoglobin as Models for Analysing Gene Regulation by Weatherall, D, Higgs, D, Wood, W, Clegg, J

Structural basis of fibrillar collagen trimerization and related genetic disorders. by Bourhis, J, Mariano, N, Zhao, Y, Harlos, K, Exposito, J, Jones, E, Moali, C, Aghajari, N, Hulmes, D

“…Mutations in C propeptides are associated with several, often lethal, genetic disorders affecting bone, cartilage, blood vessels and skin. …”

The role of the U5 snRNP in genetic disorders and cancer  by Wood, KA, Eadsforth, MA, Newman, WG, O’Keefe, RT

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders by Shuji Mizumoto, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara

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Multidisciplinary team for genetic disorders – Integration with clinicians and health-care professionals by Mounika Endrakanti, Neerja Gupta

“…Individuals with genetic disorders present with multisystem, complex, and special health care needs. …”
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Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders by Cristina Skrypnyk, Cristina Skrypnyk, Rawan AlHarmi

“…BackgroundRare genetic disorders may result in death before a definitive clinical diagnosis is established.AimThis study aims to outline the processes and challenges in managing, from a genetic perspective, couples who lost children affected by rare genetic disorders.ResultsSix couples who experienced child loss due to rare genetic disorders, seen by the primary author at genetic evaluation and counseling sessions, were retrospectively analyzed. …”
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New insights into unusual genetic disorder pave the way for promising treatments. by Janelle Weaver

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O52: Phenotypic convergence in the diagnostic process of Mendelian genetic disorders* by Rory Tinker, Josh Peterson, Lisa Bastarache

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Editorial: Deciphering the etiology of rare genetic disorders associated with protein phosphatases by Veerle Janssens, Veerle Janssens, Veerle Janssens, Brian E. Wadzinski, Chenchen Li, Richard E. Honkanen

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Spatial Impairment and Memory in Genetic Disorders: Insights from Mouse Models by Sang Ah Lee, Valter Tucci, Giorgio Vallortigara

“…We investigated this interaction between spatial representation and memory by administering two different tasks (working memory, reference memory) using two different environmental cues (rectangular geometry, striped landmark) in mouse models of human genetic disorders: Prader-Willi syndrome (PWScrm+/p− mice, n = 12) and Beta-catenin mutation (Thr653Lys-substituted mice, n = 12). …”
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Clinical Case of Rare Genetic Disorder (Proud Syndrome) in a Child by Anastasiia N. Vertianova, Anna V. Monakhova, Ulyana S. Suraeva, Olga M. Matiasova, Alla Yu. Shutkova, Elena V. Tush, Elena E. Yacishina, Marina A. Suslova, Olga V. Khaletskaya

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Breaking genetic shackles: The advance of base editing in genetic disorder treatment by Fang Xu, Fang Xu, Caiyan Zheng, Caiyan Zheng, Weihui Xu, Weihui Xu, Shiyao Zhang, Shiyao Zhang, Shanshan Liu, Shanshan Liu, Xiaopeng Chen, Xiaopeng Chen, Kai Yao, Kai Yao

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Harlequin ichthyosis - a rare genetic disorder : a case report by Ghosh Arnab, B C Dutta, Pal Sudipta

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Catatonia in adolescence: an approach to genetic disorders, autism spectrum and delay of diagnosis by N. De Sousa Figueiredo

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Considerations for a Successful RNA Trans-splicing Repair of Genetic Disorders by Ulrich Koller, Verena Wally, Johann W Bauer, Eva M Murauer

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Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders by Silvana Santos, Fernando Kok, Mathias Weller, Francisco Rennan Lopes de Paiva, Paulo A. Otto

“…Epidemiological strategies developed to collect inbreeding data, with the collaboration of health systems available in the region, might be very successful in the prospecting of genetic disorders.…”
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Clinical Utility of Whole Genome Sequencing for Undiagnosed Rare Genetic Disorders by Muhammad Qasim Awan

“…Clinical Utility of Whole Genome Sequencing for Undiagnosed Rare Genetic Disorders…”

Alstrom syndrome: A rare genetic disorder and its anaesthetic significance by Akhilesh Tiwari, Disha Awasthi, Swapnil Tayal, S Ganguly

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