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Multifactorial Birth Defects

Latest Publication and Research on Multifactorial Birth Defects

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  2011 Nov 24  

Sleep disorders in Parkinson's disease: Many causes, few therapeutic options.

Diederich NJ, McIntyre DJ

Department of Neurosciences, Centre Hospitalier de Luxembourg, 4, rue Ernest Barblé, Luxembourg-City, L-1210, Luxembourg; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Campus Belval, 7, avenue des Hauts-Fourneaux. L-4362 Esch-sur-Alzette, Luxembourg.

Sleep symptoms in Parkinson's disease (PD) are frequent and have multifactorial and multilayered causes. Primary involvement of sleep/wake regulating ... Read More

Source: PubMed

  2011 Aug 17  

[Cirrhotic cardiomyopathy: A specific entity.]

Brondex A, Arlčs F, Lipovac AS, Richecoeur M, Bronstein JA

Service de cardiologie et pathologie vasculaire, hôpital d'instruction des armées Legouest, 27, avenue de Plantičres, 57070 Metz, France.

Cirrhosis is a frequent and severe condition, which is the late stage of numerous chronic liver diseases. It is associated with major hemodynamic alte... Read More

Source: PubMed

  2011 Nov 24  

Sleep disorders in Parkinson's disease: Many causes, few therapeutic options.

Diederich NJ, McIntyre DJ

Department of Neurosciences, Centre Hospitalier de Luxembourg, 4, rue Ernest Barblé, Luxembourg-City, L-1210, Luxembourg; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Campus Belval, 7, avenue des Hauts-Fourneaux. L-4362 Esch-sur-Alzette, Luxembourg.

Sleep symptoms in Parkinson's disease (PD) are frequent and have multifactorial and multilayered causes. Primary involvement of sleep/wake regulating ... Read More

Source: PubMed

  2011 Aug 17  

[Cirrhotic cardiomyopathy: A specific entity.]

Brondex A, Arlčs F, Lipovac AS, Richecoeur M, Bronstein JA

Service de cardiologie et pathologie vasculaire, hôpital d'instruction des armées Legouest, 27, avenue de Plantičres, 57070 Metz, France.

Cirrhosis is a frequent and severe condition, which is the late stage of numerous chronic liver diseases. It is associated with major hemodynamic alte... Read More

Source: PubMed

    

Hypothesis: epigenetic effects will require a review of the genetics of child development.

Kosztolányi G

Department of Medical Genetics, University of Pécs, József A.u.7, 7623, Pécs, Hungary, gyorgy.kosztolanyi@aok.pte.hu.

The worldwide prevalence of developmental disorders in children including birth defects, mental dysfunctions, as well as early-life abnormalities lead... Read More

Source: PubMed

  2011 Nov 21  

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3?Mb deletion encompassing GLI2.

Kevelam SH, van Harssel JJ, van der Zwaag B, Smeets HJ, Paulussen AD, Lichtenbelt KD

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands. s.kevelam@vumc.nl, sietskekevelam@gmail.com.

Loss-of-function mutations of GLI2 are associated with features at the mild end of the holoprosencephaly spectrum, including abnormal pituitary gland ... Read More

Source: PubMed

  2011 Nov 22  

Gastroesophageal reflux disease-from reflux episodes to mucosal inflammation.

Kandulski A, Malfertheiner P

Department of Gastroenterology, Hepatology and Infectious Diseases, Otto-von-Guericke University Magdeburg, Leipziger Straße 44, 39120 Magdeburg, Germany.

Gastroesophageal reflux disease (GERD) affects 20-30% of the population in Western countries, and is one of the most common clinical problems in daily... Read More

Source: PubMed

  2011 Nov 21  

Procoagulant Activity in Hemostasis and Thrombosis: Virchow's Triad Revisited.

Wolberg AS, Aleman MM, Leiderman K, Machlus KR

From the Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC.

Virchow's triad is traditionally invoked to explain pathophysiologic mechanisms leading to thrombosis, alleging concerted roles for abnormalities in b... Read More

Source: PubMed

    

Hypothesis: epigenetic effects will require a review of the genetics of child development.

Kosztolányi G

Department of Medical Genetics, University of Pécs, József A.u.7, 7623, Pécs, Hungary, gyorgy.kosztolanyi@aok.pte.hu.

The worldwide prevalence of developmental disorders in children including birth defects, mental dysfunctions, as well as early-life abnormalities lead... Read More

Source: PubMed

  2011 Nov 21  

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3?Mb deletion encompassing GLI2.

Kevelam SH, van Harssel JJ, van der Zwaag B, Smeets HJ, Paulussen AD, Lichtenbelt KD

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands. s.kevelam@vumc.nl, sietskekevelam@gmail.com.

Loss-of-function mutations of GLI2 are associated with features at the mild end of the holoprosencephaly spectrum, including abnormal pituitary gland ... Read More

Source: PubMed

  2011 Nov 22  

Gastroesophageal reflux disease-from reflux episodes to mucosal inflammation.

Kandulski A, Malfertheiner P

Department of Gastroenterology, Hepatology and Infectious Diseases, Otto-von-Guericke University Magdeburg, Leipziger Straße 44, 39120 Magdeburg, Germany.

Gastroesophageal reflux disease (GERD) affects 20-30% of the population in Western countries, and is one of the most common clinical problems in daily... Read More

Source: PubMed

  2011 Nov 21  

Procoagulant Activity in Hemostasis and Thrombosis: Virchow's Triad Revisited.

Wolberg AS, Aleman MM, Leiderman K, Machlus KR

From the Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC.

Virchow's triad is traditionally invoked to explain pathophysiologic mechanisms leading to thrombosis, alleging concerted roles for abnormalities in b... Read More

Source: PubMed

  2011 Nov 15  

Congenital vertebral duplication: A predisposing risk factor for dissection.

Melki E, Nasser G, Vandendries C, Adams D, Ducreux D, Denier C

Department of Neurology, CHU Bicętre, Assistance Publique - Hôpitaux de Paris, France.

Spontaneous cervical-artery dissection (CAD) is a major cause of cerebral ischaemia in young adults. While their pathophysiology remains still poorly ... Read More

Source: PubMed

  2011 Nov 15  

Congenital vertebral duplication: A predisposing risk factor for dissection.

Melki E, Nasser G, Vandendries C, Adams D, Ducreux D, Denier C

Department of Neurology, CHU Bicętre, Assistance Publique - Hôpitaux de Paris, France.

Spontaneous cervical-artery dissection (CAD) is a major cause of cerebral ischaemia in young adults. While their pathophysiology remains still poorly ... Read More

Source: PubMed

World J Diabetes    

Consequences of gestational and pregestational diabetes on placental function and birth weight.

Vambergue A, Fajardy I

Anne Vambergue, EA 4489 "Perinatal Environment and Fetal Growth", Department of Diabetology, Huriez Hospital, 59800 CHRU Lille, France.

Maternal diabetes constitutes an unfavorable environment for embryonic and fetoplacental development. Despite current treatments, pregnant women with ... Read More

Source: PubMed

World J Diabetes    

Consequences of gestational and pregestational diabetes on placental function and birth weight.

Vambergue A, Fajardy I

Anne Vambergue, EA 4489 "Perinatal Environment and Fetal Growth", Department of Diabetology, Huriez Hospital, 59800 CHRU Lille, France.

Maternal diabetes constitutes an unfavorable environment for embryonic and fetoplacental development. Despite current treatments, pregnant women with ... Read More

Source: PubMed

Birth Defects Res. Part A Clin. Mol. Teratol.    

Polymorphisms of stress-related genes and the risk of nonsyndromic cleft lip with or without cleft palate.

Mostowska A, Hozyasz KK, Wojcicka K, Lianeri M, Jagodzinski PP

Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland. amostowska@wp.pl.

Nonsyndromic cleft lip with or without cleft palate (NCL/P) is a common structural malformation with a complex and multifactorial etiology. It has bee... Read More

Source: PubMed

Birth Defects Res. Part A Clin. Mol. Teratol.    

Polymorphisms of stress-related genes and the risk of nonsyndromic cleft lip with or without cleft palate.

Mostowska A, Hozyasz KK, Wojcicka K, Lianeri M, Jagodzinski PP

Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland. amostowska@wp.pl.

Nonsyndromic cleft lip with or without cleft palate (NCL/P) is a common structural malformation with a complex and multifactorial etiology. It has bee... Read More

Source: PubMed

PLoS ONE    

Quantifying and modeling birth order effects in autism.

Turner T, Pihur V, Chakravarti A

Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.

Autism is a complex genetic disorder with multiple etiologies whose molecular genetic basis is not fully understood. Although a number of rare mutatio... Read More

Source: PubMed

PLoS ONE    

Quantifying and modeling birth order effects in autism.

Turner T, Pihur V, Chakravarti A

Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.

Autism is a complex genetic disorder with multiple etiologies whose molecular genetic basis is not fully understood. Although a number of rare mutatio... Read More

Source: PubMed


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