“…This paper focuses on the genetic causes of important syndromic CL/P forms (van der Woude syndrome, 22q11 deletion syndrome, and Robin sequence-associated syndromes) and depicts the recent findings in nonsyndromic CL/P research, addressing issues in the conduct of the geneticist.…”
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“…The goal of the review is not to provide detailed recipes, but to attempt to present a short summary of these approaches a behavioral geneticist or neuroscientist may consider for the analysis of brain function and behavior.…”
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“…INTERVENTIONS: The treatment required multidisciplinary involvement: neonatologist, pediatrician, geneticist, dermatologist, psychologist, ophthalmologist, audiologist. …”
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“…The protocols detailed here have been streamlined to be executed by virtually any yeast molecular geneticist.…”
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“…CONCLUSION: We present an easy-to-use selection tool to identify children with suspected IH, which results in the selection of the risk group that may benefit from referral to a pediatrician and a clinical geneticist.…”
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“…Chromosomal analysis can be used as one of the diagnostic tools by OBG/IVF specialists in association with geneticist/genetic counselor for proper reproductive counseling and management.…”
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“…‘The apportionment of human diversity’ (1972) is the most highly cited research article published by geneticist Richard Lewontin in his career. This study's primary result—that most genetic diversity in humans can be accounted for by within-population differences, not between-population differences—along with Lewontin's outspoken, politically charged interpretations thereof, has become foundational to the scientific and cultural discourse pertaining to human genetic variation. …”
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“…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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“…The assessment was conducted by using the questionnaire as well as outcome of group discussions with three geneticist groups including, members of the board of medical genetics, genetics graduate students, and practitioners in genetic counseling. …”
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“…Subsequent referral to a geneticist confirmed mild classic EDS. CONCLUSION: Along with the major manifestation of EDS, other signs and symptoms that characterize this disorder include musculoskeletal pain, fatigue, dizziness/vertigo, depression, and anxiety, which are often associated with CDH in adolescents. …”
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“…Although pediatric cataracts have a diverse etiology, with the majority being idiopathic, genetic counseling and molecular testing should be undertaken with the help of a genetic counselor and/or geneticist in cases of hereditary cataracts. Advancement in surgical techniques and methods of optical rehabilitation has substantially improved the functional and anatomic outcomes of pediatric cataract surgeries in recent years. …”
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“…Members of the multi-disciplinary team included the breast surgeon, plastic surgeon and geneticist, who formulated guidelines. RESULTS: A simple formula to calculate the life-time risk of contralateral breast cancer has been devised. …”
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“…A major barrier is medical geneticist availability, resulting in this burden of care shifting to providers outside of genetics. …”
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“…These recent advances on molecular genetics, diagnosis and treatment of SCCOHT address the necessity of multiple institutional collaboration work among oncologist, pathologist, genomic scientist, geneticist, molecular biologist, and pharmacologist.…”
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“…Furthermore it underlines the need for a multidisciplinary approach in these disorders and how the figure of the cardio-myo-geneticist may play a key role in facilitating the diagnostic process, and addressing the adoption of appropriate prevention measures.…”
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“…METHODS: Two case examples are presented and management issues discussed from different health care perspectives, including the nurse, patient, psychologist, gynaecologist, geneticist, psychosexual therapist and haematologist. …”
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“…So, the team completed the autopsies and created a protocol to obtain biological samples (bones, blood, teeth, muscles), while the forensic pathologists contacted the families of the alleged victims and each provided a blood sample that was collected for the DNA. The geneticist, using the method of gene extraction and amplification, obtained the DNA from each bone, tooth, and muscle of blood taken from the victims and then compared it with that extracted from the blood samples of the relatives; the electropherograms showed at least one allele for each genetic marker of the “Combined DNA Index System” in common between the victims and the families, thus allowing to establish the identity of all the subjects involved in the event. …”
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“…Nevertheless, rare complement gene variants are prevalent in healthy individuals, thus providing an indication that an investigation into complement dysregulation should be carefully balanced and that the results should be cautiously interpreted with the help of a trained geneticist. Several authors have suggested reclassifying HUS in two entities, regardless of they are complement-mediated or not, since the use of eculizumab, an anti-C5 antibody, dramatically lowers the proportion of patients who die or suffer from end-stage renal disease within the year following diagnosis. …”
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“…We emphasize the importance of the geneticist in the diagnosis and treatment of VAs, as part of a multidisciplinary team involved in the management of VAs.…”
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“…Nina Fedoroff, a leading geneticist and recognized expert in biotechnology, answers these questions, and more. …”
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