Progressive pseudorheumatoid dysplasia in an Omani family: a case report by Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi

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Rare Case of Female with Pelizaeus Mertzbacher Disease Due to Deletion of Proteolipid Protein 1 by Masanosuke Kinoshita, William Roston

“…Since no chromosomal evaluation was performed, a chromosomal microarray testing was performed. Review of geneticist report indicated that patient carries a deletion of at least 2.26 Mb within cytogenetic band Xq22.1 to Xq22.2 which is known to contain 39 genes. …”
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Racial irredentism, ethnogenesis, and white supremacy in high-apartheid South Africa by Saul Dubow

“…Hofmeyr, an eminent but little-known plant geneticist based at Pretoria University, to establish 'anthropogenetics' as a dimension of human genetics. …”
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Severe Hypocalcemia in the Adolescent as the Only Manifestation of <i>22q11</i> Microdeletion Syndrome: Clinical Case by Anastasia O. Vechkasova, Natalia V. Buchinskaya, Mikhail M. Kostik

“…He was referred to rheumatologist and clinical geneticist after hospital stay. Differential diagnosis included not only various bones metabolic diseases, but also 22q11 deletion syndrome. …”
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Three quite different things that matter to me by Lindquist, Susan

“…SOME ADVICE TO THE YOUNG I am somewhat abashed to say, right at the start of this piece, that I don't think of myself as a cell biologist—any more than as a geneticist or biochemist. One of the great glories of our field is that it is bursting the dam and flooding the plains. …”
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Scalable approaches to inference and analysis of genome-wide genealogies by Gunnarsson, ÁF

“…Together, our results present a strong argument in favor of the ARG as a standard feature of the statistical geneticist's toolkit, and with Threads, efficient and accurate inference of ARGs is made feasible for modern, biobank-scale datasets.…”

Imatinib Use in Pregnancy by Michael J Webb, Debbie Jafta

“…This patient's child underwent postpartum evaluation by a geneticist and was observed to be morphologically normal, except for clinodactyly and low-set ears.…”
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Visualization of pairwise and multilocus linkage disequilibrium structure using latent forests. by Raphaël Mourad, Christine Sinoquet, Christian Dina, Philippe Leray

“…Thanks to its hierarchical nature, our method is shown to provide a compact view of both pairwise and multilocus linkage disequilibrium spatial structures for the geneticist. Besides, a multilocus linkage disequilibrium measure has been designed to evaluate linkage disequilibrium in hierarchy clusters. …”
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Plant genetic resources for the development of priority areas of breeding by Zolkin Alexander, Matvienko Evgeny, Pankratova Lyubov, Eriashvili Nodari, Koval Yulia

“…Vavilov, a gifted Russian geneticist, botanist and breeder, made an invaluable contribution to the development of world science of plant genetic resources. …”
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At the heart of genetic disease: an interview with Elizabeth McNally by Elizabeth McNally, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

“…Elizabeth McNally is a human geneticist and a cardiologist whose research has been instrumental in understanding the mechanisms of inherited heart and skeletal muscle diseases. …”
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Management challenges of disorders of sex development- Case Series by B. Tuyishimire, H. Irere, F. Rutagarama, A. Ndatinya, O. R. Karangwa, A. Gasana, C. Nsanzabaganwa, L. Mutesa

“…A multidisciplinary team of a geneticist, urologist, endocrinologist and a psychologist reviewed the patient for the effective management. …”
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Karl Gustaf Torsten Sjögren and the Sjögren-Larsson syndrome by Khalid Al Aboud, Daifullah Al Aboud

“…<p>Karl Gustaf Torsten Sjögren (1896-1974) a Swedish psychiatrist and geneticist, was a pioneer of modern Swedish psychiatry. …”
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Genetics of the cell surface by Bodmer, W, Watkins, WM, Stocker, B

“…The remarkable cell surface variants of the trypanosomes must have a genetic basis, whose nature remains a challenge to the molecular geneticist. The last of these four contributions deals with plant incompatibility systems, whose physiology has long suggested mechanisms involving some form of surface recognition. …”

Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation – a case report by Shyam S. Kothari, Jayal Shah, Vishal Sharma, Riyaz Charaniya, Rujuta Parikh, Salil N. Vaniawala

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PREGNANCY IN WOMEN WITH A HISTORY OF BREAST CANCER by A. A. Parokonnaya, M. I. Nechushkin, L. N. Lyubchenko, E. B. Kampova-Polevaya

“…At the same time, the patient should undergo a complete examination, involving a geneticist's counseling.…”
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A case of congenital malformation of the brain in a newborn on the background of hereditary metabolic disorders by A. A. Lebedenko, A. A. Afonin, T. B. Kozyreva, K. I. Lazareva, L. I. Monat

“…Only a further in-depth examination (consultations of a geneticist, neurologists, MRI of the brain, medical and genetic research) allowed us to clarify the nature of the pathology. …”
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openSNP--a crowdsourced web resource for personal genomics. by Bastian Greshake, Philipp E Bayer, Helge Rausch, Julia Reda

“…Direct-To-Consumer (DTC) genetic testing can supply additional data: DTC-companies offer the analysis of a large amount of SNPs for an individual at low cost without the need to consult a physician or geneticist. Over 100,000 people have already been genotyped through Direct-To-Consumer genetic testing companies. …”
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A systematic review of Bannayan – Riley – Ruvalcaba syndrome by Medeinė Kapačinskaitė, Natalia Stratica, Irina Adomaitienė, Jelena Rascon, Birutė Vaišnytė

“…Recognition of BRRS clinical symptoms and early referral to a geneticist is important for better disease control and overall prognosis. …”
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Microdeletion 12p12.1 involving SRY-related HMG-box 5 gene with developmental delay and autistic behavior: A rare case report by Manisha Goyal, Ashok Gupta, Rahul Gupta, Mohammed Faruq, Divya Shrivastava

“…The patient is under follow-up with a pediatrician, geneticist, speech therapist, and physiotherapist. A high index of suspicion for cytogenetic abnormalities should be present in a pediatric patient presenting with DD, genitourinary abnormalities, and associated with or without facial dysmorphism.…”
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Pediatric Orthogenomics: The Latest Trends and Controversies by Neha Sinha, Mark A. Seeley, Daniel S. Horwitz, Hemil Maniar, Andrea H. Seeley

“…Genetic characterization of a patient will help indicate risk of progression of a condition, recurrence and/or response to a treatment modality, and a collaborative approach between an orthopaedic surgeon and a geneticist can help tailor patient care. The following review article summarizes current understanding in molecular genomics of common pediatric orthopaedic disorders.…”
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