Read more about the article Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.
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Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.

Abstract Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screening panel based on evidence that early corticosteroid treatment improves outcomes and on new genetic therapies that require…

Continue ReadingIdentifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.
Read more about the article Sex-specific age association with primary DNA transfer.
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Sex-specific age association with primary DNA transfer.

Abstract Practicing forensic scientists who are called to provide expert witness testimony are often asked to explain both the presence and the absence of DNA on objects that have been…

Continue ReadingSex-specific age association with primary DNA transfer.
Read more about the article The synergistic effect between the Mediterranean diet and GSTP1 or NAT2 SNPs decreases breast cancer risk in Greek-Cypriot women.
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The synergistic effect between the Mediterranean diet and GSTP1 or NAT2 SNPs decreases breast cancer risk in Greek-Cypriot women.

Abstract Xenobiotic metabolism is related to the interplay between diet and breast cancer (BC) risk. This involves detoxification enzymes, which are polymorphic and metabolise various dietary metabolites. An important characteristic…

Continue ReadingThe synergistic effect between the Mediterranean diet and GSTP1 or NAT2 SNPs decreases breast cancer risk in Greek-Cypriot women.
Read more about the article A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.
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A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.

Abstract Patients with Turner syndrome are generally characterized by having short stature with no secondary sexual characteristics. Some abnormalities, such as webbed neck, renal malformations (>50%) and cardiac defects (10%)…

Continue ReadingA unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.
Read more about the article Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.
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Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.

Abstract These recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of…

Continue ReadingRecommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.
Read more about the article Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.
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Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.

Abstract Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a highly disabling, life-threatening disease characterized by progressive sensorimotor and autonomic neuropathy. The profile of the disease across Europe is inadequately understood at…

Continue ReadingSixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.
Read more about the article Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
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Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.

Abstract Steinfeld syndrome (MIM #184705) was first reported in 1982. It is characterised by holoprosencephaly and limb defects, however other anomalies may also be present. Following the initial description, three…

Continue ReadingMicroform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
Read more about the article Lessons learned–resolving the enigma of genetic factors in IBS.
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Lessons learned–resolving the enigma of genetic factors in IBS.

Abstract IBS is the most prevalent functional gastrointestinal disorder and phenotypically characterized by chronic abdominal discomfort, pain and altered defecation patterns. The pathophysiology of IBS is multifactorial, albeit with a…

Continue ReadingLessons learned–resolving the enigma of genetic factors in IBS.
Read more about the article Adherence to combined lifestyle factors and their contribution to obesity in the IDEFICS study.
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Adherence to combined lifestyle factors and their contribution to obesity in the IDEFICS study.

Abstract The Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS (IDEFICS) study investigated the aetiology of childhood obesity and developed a primary prevention programme. Pre-intervention…

Continue ReadingAdherence to combined lifestyle factors and their contribution to obesity in the IDEFICS study.
Read more about the article Fat, sugar and water intakes among families from the IDEFICS intervention and control groups: first observations from I.Family.
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Fat, sugar and water intakes among families from the IDEFICS intervention and control groups: first observations from I.Family.

Abstract The objective of this paper is to investigate differences in diets of families in intervention versus control communities 5 years after the Identification and Prevention of Dietary- and Lifestyle-Induced Health…

Continue ReadingFat, sugar and water intakes among families from the IDEFICS intervention and control groups: first observations from I.Family.