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Latest Publication and Research on Birth Defect - Genetic
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Birth Defect - Genetic
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Birth Defects - Genetic
Latest Publication and Research on Birth Defect - Genetic
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2011 Dec 3 Using genomics for birth defects epidemiology: Can epigenetics cut the GxE gordian knot? Friedman JM Department of Medical Genetics, University of British Columbia, and Child and Family Research Institute, Vancouver, British Columbia, Canada. janfriedman@ubc.ca. Most birth defects are etiologically complex disorders caused by combinations of genetic and environmental factors, but most studies of birth defect e... Read More Source: PubMed Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT). Renkema KY, Winyard PJ, Skovorodkin IN, Levtchenko E, Hindryckx A, Jeanpierre C, Weber S, Salomon R, Antignac C, Vainio S, Schedl A, Schaefer F, Knoers NV, Bongers EM Correspondence and offprint requests to: Nine V.A.M. Knoers; E-mail: V.V.A.Knoers@umcutrecht.nl. Congenital anomalies of the kidney and urinary tract (CAKUT) are the commonest cause of chronic kidney disease in children. Structural anomalies withi... Read More Source: PubMed 2011 Nov 26 The neurology of carbonic anhydrase type II deficiency syndrome. Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, Malki SA, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, Aldrees A, Elmalik SA, Van Hul W, Abu-Amero KK 1 Department of Ophthalmology and Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubula... Read More Source: PubMed Osaka City Med J Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome. Aso K, Okano Y, Takeda T, Sakamoto O, Ban K, Iida K, Yamano T, Shintaku H Department of Pediatrics, Osaka City University, Graduate School of Medicine, Japan. Congenital hyperinsulinism and hyperammonemia (CHH) is caused by gain of function of glutamate dehydrogenase (GDH). The genetic abnormalities are know... Read More Source: PubMed 2011 Nov 21 Microtia: Epidemiology and genetics. Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington. daniela.luquetti@seattlechildrens.org. Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur a... Read More Source: PubMed 2011 Nov 19 [New X linked mental retardation syndrome.] Rodríguez Criado G Hospital Infantil Universitario Virgen del Rocío, Sevilla, España. INTRODUCTION: Researching inherited mental retardation, from a diagnostic and aetiological point of view, is a great challenge. A particular type of m... Read More Source: PubMed GENES AS INSTRUMENTS FOR STUDYING RISK BEHAVIOR EFFECTS: AN APPLICATION TO MATERNAL SMOKING AND OROFACIAL CLEFTS. Wehby G, Jugessur A, Murray JC, Moreno L, Wilcox A, Lie RT Assistant Professor, Dept. of Health Management and Policy, College of Public Health, University of Iowa, 200 Hawkins Drive, E205 GH, Iowa City, IA 52242 USA, ; This study uses instrumental variable (IV) models with genetic instruments to assess the effects of maternal smoking on the child's risk of orofacial ... Read More Source: PubMed 2011 Dec 3 Using genomics for birth defects epidemiology: Can epigenetics cut the GxE gordian knot? Friedman JM Department of Medical Genetics, University of British Columbia, and Child and Family Research Institute, Vancouver, British Columbia, Canada. janfriedman@ubc.ca. Most birth defects are etiologically complex disorders caused by combinations of genetic and environmental factors, but most studies of birth defect e... Read More Source: PubMed 2011 Nov 30 Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G?>?C, p.G325A) in ACVR1. Whyte MP, Wenkert D, Demertzis JL, Dicarlo EF, Westenberg E, Mumm S Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children; St. Louis, Missouri, USA, 63131; Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital; St. Louis, Missouri, USA, 63110. mwhyte@shrinenet.org. Fibrodysplasia ossificans progressiva (FOP) is the rare mendelian disease characterized by congenital malformation of the great toes preceding heterot... Read More Source: PubMed 2011 Nov 28 Genetic Disease in the Children of Danish Survivors of Childhood and Adolescent Cancer. Winther JF, Olsen JH, Wu H, Shyr Y, Mulvihill JJ, Stovall M, Nielsen A, Schmiegelow M, Boice JD Jeanette F. Winther, Jørgen H. Olsen, and Annelise Nielsen, Institute of Cancer Epidemiology, Danish Cancer Society; Marianne Schmiegelow, Clinic of Pediatrics, Copenhagen, Denmark; Jørgen H. Olsen, Huiyun Wu, Yu Shyr, and John D. Boice Jr, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN; John J. Mulvihill, University of Oklahoma, Oklahoma City, OK; Marilyn Stovall, The University of Texas MD Anderson Cancer Center, Houston, TX; and John D. Boice Jr, International Epidemiology Institute, Rockville, MD. PURPOSEPreconception radiation and chemotherapy have the potential to produce germ cell mutations leading to genetic disease in the next generation. D... Read More Source: PubMed Pan Afr Med J Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia. Al Bu Ali WH, Balaha MH, Al Moghannum MS, Hashim I Dammam University, Saudi Arabia. Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and pre... Read More Source: PubMed Pan Afr Med J Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia. Al Bu Ali WH, Balaha MH, Al Moghannum MS, Hashim I Dammam University, Saudi Arabia. Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and pre... Read More Source: PubMed Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT). Renkema KY, Winyard PJ, Skovorodkin IN, Levtchenko E, Hindryckx A, Jeanpierre C, Weber S, Salomon R, Antignac C, Vainio S, Schedl A, Schaefer F, Knoers NV, Bongers EM Correspondence and offprint requests to: Nine V.A.M. Knoers; E-mail: V.V.A.Knoers@umcutrecht.nl. Congenital anomalies of the kidney and urinary tract (CAKUT) are the commonest cause of chronic kidney disease in children. Structural anomalies withi... Read More Source: PubMed 2011 Nov 26 The neurology of carbonic anhydrase type II deficiency syndrome. Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, Malki SA, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, Aldrees A, Elmalik SA, Van Hul W, Abu-Amero KK 1 Department of Ophthalmology and Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubula... Read More Source: PubMed Osaka City Med J Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome. Aso K, Okano Y, Takeda T, Sakamoto O, Ban K, Iida K, Yamano T, Shintaku H Department of Pediatrics, Osaka City University, Graduate School of Medicine, Japan. Congenital hyperinsulinism and hyperammonemia (CHH) is caused by gain of function of glutamate dehydrogenase (GDH). The genetic abnormalities are know... Read More Source: PubMed 2011 Nov 21 Microtia: Epidemiology and genetics. Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington. daniela.luquetti@seattlechildrens.org. Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur a... Read More Source: PubMed 2011 Nov 19 [New X linked mental retardation syndrome.] Rodríguez Criado G Hospital Infantil Universitario Virgen del Rocío, Sevilla, España. INTRODUCTION: Researching inherited mental retardation, from a diagnostic and aetiological point of view, is a great challenge. A particular type of m... Read More Source: PubMed GENES AS INSTRUMENTS FOR STUDYING RISK BEHAVIOR EFFECTS: AN APPLICATION TO MATERNAL SMOKING AND OROFACIAL CLEFTS. Wehby G, Jugessur A, Murray JC, Moreno L, Wilcox A, Lie RT Assistant Professor, Dept. of Health Management and Policy, College of Public Health, University of Iowa, 200 Hawkins Drive, E205 GH, Iowa City, IA 52242 USA, ; This study uses instrumental variable (IV) models with genetic instruments to assess the effects of maternal smoking on the child's risk of orofacial ... Read More Source: PubMed 2011 Nov 30 Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G?>?C, p.G325A) in ACVR1. Whyte MP, Wenkert D, Demertzis JL, Dicarlo EF, Westenberg E, Mumm S Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children; St. Louis, Missouri, USA, 63131; Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital; St. Louis, Missouri, USA, 63110. mwhyte@shrinenet.org. Fibrodysplasia ossificans progressiva (FOP) is the rare mendelian disease characterized by congenital malformation of the great toes preceding heterot... Read More Source: PubMed 2011 Nov 28 Genetic Disease in the Children of Danish Survivors of Childhood and Adolescent Cancer. Winther JF, Olsen JH, Wu H, Shyr Y, Mulvihill JJ, Stovall M, Nielsen A, Schmiegelow M, Boice JD Jeanette F. Winther, Jørgen H. Olsen, and Annelise Nielsen, Institute of Cancer Epidemiology, Danish Cancer Society; Marianne Schmiegelow, Clinic of Pediatrics, Copenhagen, Denmark; Jørgen H. Olsen, Huiyun Wu, Yu Shyr, and John D. Boice Jr, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN; John J. Mulvihill, University of Oklahoma, Oklahoma City, OK; Marilyn Stovall, The University of Texas MD Anderson Cancer Center, Houston, TX; and John D. Boice Jr, International Epidemiology Institute, Rockville, MD. PURPOSEPreconception radiation and chemotherapy have the potential to produce germ cell mutations leading to genetic disease in the next generation. D... Read More Source: PubMed |
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Posted on: 03/16/2011 The Content/ remarks were helpful. From http://www.hyderabadonnet.com
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