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Latest Publication and Research on Birth Defect - Structural Defects
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Birth Defect - Structural Defects
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Birth Defect - Structural Defects
Latest Publication and Research on Birth Defect - Structural Defects
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2011 Nov 21 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. Hoppman-Chaney N, Jang JS, Jen J, Babovic-Vuksanovic D, Hodge JC Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. Cornelia de Lange Syndrome (CdLS) is a genetically heterogeneous disorder characterized by dysmorphic facial features, cleft palate, limb defects, gro... Read More Source: PubMed 2011 Nov 25 Developmental thyroid hormone disruption: Prevalence, environmental contaminants and neurodevelopmental consequences. Gilbert ME, Rovet J, Chen ZP, Koibuchi N Toxicity Assessment Division (MD-B105-05), US Environmental Protection Agency, National Health and Environmental Effects Research Laboratory, Research Triangle Park, NC 27711, USA. Thyroid hormones (TH) are critical for growth and development and particularly brain development. There are numerous environmental agents that lead to... Read More Source: PubMed Minerva Cardioangiol Physical exercise in young patients with congenital heart disease. Dal Bianco L, Russo G, Bagato F, Resta R, Daliento L Cardiology Department, University of Padua, Padua, Italy - luciano.daliento@unipd.it. The aim of this paper is to clarify two important aspects about patients affected by congenital heart disease. Their functional status plays a dominan... Read More Source: PubMed Folia Biol. (Praha) Analysis of Chromosomal Aberrations in Patients with Mental Retardation Using the Array-CGH Technique: a Single Czech Centre Experience. Zrnová E, Vranová V, Slámová I, Gaillyová R, Kuglík P University Hospital Brno, Department of Medical Genetics, Integrated Laboratory of Molecular Cytogenetics, Brno, Czech Republic. Submicroscopic structural chromosomal aberrations (microduplications and microdeletions) are believed to be common causes of menta... 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 25 Developmental thyroid hormone disruption: Prevalence, environmental contaminants and neurodevelopmental consequences. Gilbert ME, Rovet J, Chen ZP, Koibuchi N Toxicity Assessment Division (MD-B105-05), US Environmental Protection Agency, National Health and Environmental Effects Research Laboratory, Research Triangle Park, NC 27711, USA. Thyroid hormones (TH) are critical for growth and development and particularly brain development. There are numerous environmental agents that lead to... Read More Source: PubMed Minerva Cardioangiol Physical exercise in young patients with congenital heart disease. Dal Bianco L, Russo G, Bagato F, Resta R, Daliento L Cardiology Department, University of Padua, Padua, Italy - luciano.daliento@unipd.it. The aim of this paper is to clarify two important aspects about patients affected by congenital heart disease. Their functional status plays a dominan... Read More Source: PubMed Folia Biol. (Praha) Analysis of Chromosomal Aberrations in Patients with Mental Retardation Using the Array-CGH Technique: a Single Czech Centre Experience. Zrnová E, Vranová V, Slámová I, Gaillyová R, Kuglík P University Hospital Brno, Department of Medical Genetics, Integrated Laboratory of Molecular Cytogenetics, Brno, Czech Republic. Submicroscopic structural chromosomal aberrations (microduplications and microdeletions) are believed to be common causes of menta... 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 21 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. Hoppman-Chaney N, Jang JS, Jen J, Babovic-Vuksanovic D, Hodge JC Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. Cornelia de Lange Syndrome (CdLS) is a genetically heterogeneous disorder characterized by dysmorphic facial features, cleft palate, limb defects, gro... 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 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 16 Evidence for involvement of GNB1L in autism. Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, Tsuang MT, Wijsman EM, Raskind WH, Brkanac Z Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington. Structural variations in the chromosome 22q11.2 region mediated by nonallelic homologous recombination result in 22q11.2 deletion (del22q11.2) and 22q... Read More Source: PubMed 2011 Nov 16 Evidence for involvement of GNB1L in autism. Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, Tsuang MT, Wijsman EM, Raskind WH, Brkanac Z Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington. Structural variations in the chromosome 22q11.2 region mediated by nonallelic homologous recombination result in 22q11.2 deletion (del22q11.2) and 22q... Read More Source: PubMed Brain Nerve [Recent Advances in a-dystroglycanopathy]. Kuga A, Kanagawa M, Toda T Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine. Abstract Fukuyama-type congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS) are autosomal recessive... Read More Source: PubMed Brain Nerve [Recent Advances in a-dystroglycanopathy]. Kuga A, Kanagawa M, Toda T Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine. Abstract Fukuyama-type congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS) are autosomal recessive... Read More Source: PubMed Pediatr Rep Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies. Takanashi K, Suzuki Y, Noro A, Sugiyama M, Nakanishi M, Nagashima T, Nakamura A, Katsura I, Tajima T Department of Pediatrics, Kushiro Red Cross Hospital, Kushiro; The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the c... Read More Source: PubMed Pediatr Rep Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies. Takanashi K, Suzuki Y, Noro A, Sugiyama M, Nakanishi M, Nagashima T, Nakamura A, Katsura I, Tajima T Department of Pediatrics, Kushiro Red Cross Hospital, Kushiro; The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the c... Read More Source: PubMed 2011 Nov 3 Inherited neuromuscular disorders: Pathway to diagnosis. Menezes MP, North KN Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, New South Wales, Australia. Muscle weakness in childhood can be caused by a lesion at any point extending from the motor cortex, brainstem and spinal cord to the anterior horn ce... Read More Source: PubMed 2011 Nov 3 Inherited neuromuscular disorders: Pathway to diagnosis. Menezes MP, North KN Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, New South Wales, Australia. Muscle weakness in childhood can be caused by a lesion at any point extending from the motor cortex, brainstem and spinal cord to the anterior horn ce... Read More Source: PubMed |
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Posted by:
KAMALKANTKANSAL
Posted on: 04/28/2012 my daughter is suffering from spino bifida with shortning of leg probably no neurological symptoms and sign
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Posted by:
Nuzhat
Posted on: 11/07/2008 My brother in law is handicap. On his birth, his feet were upside down. With the help of German technology His feet were operated and got better. But today he still can't walk nor talk and gets seizures also. I praise him and admire his will power. May Allah bless all such children and provide them evrything in the hereafter...Ameen! |
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