The genetics of Charcot & ndash;Marie & ndash;Tooth disease: current trends and future implications for diagnosis and management
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - October 19, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
The genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management
J Chad Hoyle,1 Michael C Isfort,1 Jennifer Roggenbuck,1,2 W David Arnold1,3,4 1Department of Neurology, Division of Neuromuscular Disorders, 2Department of Internal Medicine, Division of Human Genetics, 3Department of Physical Medicine and Rehabilitation, 4Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH, USA Abstract: Charcot–Marie–Tooth (CMT) disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus. Other forms of hereditary neuropathy, includi...
Source: Application of Clinical Genetics - October 19, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Genetics of Charcot–Marie–Tooth disease
Hoyle JC, Isfort MC, Roggenbuck J, Arnold WD (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - October 18, 2015 Category: Genetics & Stem Cells Source Type: research
Genetics of inherited primary arrhythmia disorders
Spears DA, Gollob MH (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - September 17, 2015 Category: Genetics & Stem Cells Source Type: research
An update of clinical management of acute intermittent porphyria
Elena Pischik,1,2 Raili Kauppinen,11Porphyria Research Unit, Division of Endocrinology, Department of Medicine, University Central Hospital of Helsinki, Helsinki, Finland; 2Department of Neurology, Consultative and Diagnostic Centre with Polyclinics, St Petersburg, Russia Abstract: Acute intermittent porphyria (AIP) is due to a deficiency of the third enzyme, the hydroxymethylbilane synthase, in heme biosynthesis. It manifests with occasional neuropsychiatric crises associated with overproduction of porphyrin precursors, aminolevulinic acid and porphobilinogen. The clinical criteria of an acute attack include the paroxysm...
Source: Application of Clinical Genetics - September 1, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Clinical management of acute intermittent porphyria
Pischik E, Kauppinen R (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - August 31, 2015 Category: Genetics & Stem Cells Source Type: research
1p36 deletion syndrome: an update
Valerie K Jordan,1 Hitisha P Zaveri,2 Daryl A Scott1,2 1Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA Abstract: Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans. Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital he...
Source: Application of Clinical Genetics - August 27, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
1p36 deletions
Jordan VK, Zaveri HP, Scott DA (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - August 26, 2015 Category: Genetics & Stem Cells Source Type: research
Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis
Lijiang Ma,1,* Ruijun Bao2,*1Department of Pediatrics and Medicine, Division of Molecular Genetics, Columbia University Medical Center, New York, NY, 2The Children's IBD Center, Mount Sinai Hospital, New York, NY, USA *These authors contributed equally to this work Abstract: Pulmonary capillary hemangiomatosis (PCH) is a pulmonary vascular disease that mainly affects small capillaries in the lung, and is often misdiagnosed as pulmonary arterial hypertension or pulmonary veno-occlusive disease due to similarities in their clinical presentations, prognosis, and management. In patients who are symptomatic, there is a hi...
Source: Application of Clinical Genetics - August 6, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
EIF2AK4 mutations in pulmonary capillary hemangiomatosis
Ma L, Bao R (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - August 6, 2015 Category: Genetics & Stem Cells Source Type: research
Alstr & ouml;m syndrome: current perspectives
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - July 21, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Alström syndrome: current perspectives
María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS) is a rare genetic disorder that has been included in the ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases associated with defects in ciliary structure and function. The development of more powerful genetic approaches has been replaced the strategies to follow for getting a successful molecular diagnosis for these patients, especially ...
Source: Application of Clinical Genetics - July 21, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
