Primidone
Meadow, Congenital abnormalities and anticonvulsant drugs., in Proc R Soc Med, vol. 63, n. 1, gennaio 1970, pp. 48-9, PMID ... K. Kagitani-Shimono, K. Imai; N. Okamoto; J. Ono; S. Okada, Unverricht-Lundborg disease with cystatin B gene abnormalities, in ... Y. Biale, H. Lewenthal, Effect of folic acid supplementation on congenital malformations due to anticonvulsive drugs, in Eur J ...
Talidomide
Yang T J, Yang T S, Liang H M, Thalidomide and congenital abnormalities, in The Lancet, vol. 1, n. 7280, marzo 1963, pp. 552- ... Lenz W., Pfeiffer R.A,Kosenow W, Hayman D.J, Thalidomide and Congenital Abnormalities, in Lancet, vol. 279, n. 7219, gennaio ... Somers G. F., Thalidomide and congenital abnormalities, in Lancet, vol. 1, n. 7235, aprile 1962, pp. 912-3, PMID 13915092. ^ ( ... 45-6. ^ McBride W. G., Thalidomide and Congenital Abnormalities, in Lancet, vol. 278, n. 7216, dicembre 1961, p. 1358. ^ ...
Farmacovigilanza
W.G. Mcbride, THALIDOMIDE AND CONGENITAL ABNORMALITIES, in The Lancet, vol. 278, n. 7216, 1961-12, pp. 1358, DOI:10.1016/s0140- ...
Criptotia
Smith W, Toye J, Reid A, Smith R, Nonsurgical correction of congenital ear abnormalities in the newborn: Case series, in ...
Labirintite
Alexandre Yazigi, Aurelia Eldin De Pecoulas e Christelle Vauloup-Fellous, Fetal and neonatal abnormalities due to congenital ... Karen B. Fowler e Suresh B. Boppana, Congenital cytomegalovirus infection, in Seminars in Perinatology, vol. 42, n. 3, 2018-04 ...
Agenesia renale
Congenital abnormalities of the kidney and urinary tract, ovvero "anomalie congenite dei reni e delle vie urinarie"). Entrambe ...
Sindrome di Usher
Hallgren B, Retinitis pigmentosa combined with congenital deafness with vestibulo-cerebellar ataxia and mental abnormality in a ...
Defibrillatore cardiaco impiantabile
Groh WJ, Silka Mj, Oliver RP, Use of implantable cardioverter-defibrillators in the congenital long-QT syndrome, in J Cardiol ... ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities Archiviato il 9 marzo 2012 in Internet ...
Ring 18
Feenstra et al (2011). Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. Am ... A 149A (7): 1431-7. ^ Yanoff et al (1970). Ocular and cerebral abnormalities in chromosome 18 deletion defect. Am J Ophthalmol ... Gropp et al (1964). Multiple congenital anomalies associated with a partially ring-shaped chromosome probably derived from ...
Sindrome di Warkany 2
EN) Ghazi M. Rayan, Joseph Upton III, Congenital Hand Anomalies and Associated Syndromes, Springer, 2014, p. 34, ISBN 978-3-642 ... EN) Gardner RJM, Sutherland GR., Chromosome abnormalities and genetic counseling, Oxford, NY, Oxford University Press, 2004. G. ... Congenital Hand Anomalies and Associated Syndromes, Springer, 2014, ISBN 978-3-642-54610-5. Cromosoma 8 Mosaicismo Sindrome ...
Ciclo di Krebs
Abnormalities of several iron-sulfur proteins, in Journal of Clinical Investigation, vol. 92, n. 6, dicembre 1993, pp. 2660- ... Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis, in The Journal of Pediatrics, vol. 121, ...
Articolazione atlo-occipitale
Miyakoshi N, Hongo M, Kasukawa Y, Shimada Y, Syncope caused by congenital anomaly at the craniovertebral junction: a case ... Association between craniovertebral junction abnormalities and syringomyelia in patients with chiari malformation type-1., in ... Miyakoshi N, Hongo M, Kasukawa Y, Shimada Y. Syncope caused by congenital anomaly at the craniovertebral junction: a case ... Association between craniovertebral junction abnormalities and syringomyelia in patients with chiari malformation type-1. ...
Coloboma
Pagon RA, Graham JM, Zonana J, Yong SL (1981). Coloboma, congenital heart disease, and choanal atresia with multiple anomalies ... URL consultato il 10 luglio 2015 (archiviato dall'url originale il 28 aprile 2018). Eye Abnormalities in Fetal Alcohol Syndrome ...
Cardiomiopatia del ventricolo sinistro non compattato
Stähli BE et al., Left ventricular non-compaction: prevalence in congenital heart disease, in Int J Cardiol, n. 167, 2013, pp. ... Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular ... Engberding R e Bender F, Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: ...
Destrocardia
Ya-Qi Ji, Pei-Wu Sun e Jia-Xin Hu, Diagnosis and surgical treatment of congenital dextrocardia, in Di 1 jun yi da xue xue bao ... Cardiovascular manifestations of heterotaxy and related situs abnormalities assessed with CT angiography, in Journal of ... Marcus P. Kennedy, Heymut Omran e Margaret W. Leigh, Congenital heart disease and other heterotaxic defects in a large cohort ... P. Angelini, Embryology and congenital heart disease, in Texas Heart Institute Journal, vol. 22, n. 1, 1995, pp. 1-12. URL ...
Distrofia miotonica
Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1., in N Engl J Med., vol. 358, giugno 2008, pp ... a study on 57 individuals with congenital and childhood forms., in Am J Med Genet B Neuropsychiatr Genet., 147B, 2008, pp. 918- ...
Sindrome della quadrupla X
Xiong WY, Jiang ZY, Zou CC, Tetrasomy X in a Child with Multiple Abnormalities: Case Report and Literature Review from China, ... Survival in Children With Congenital Heart Disease: Have We Reached a Peak at 97%?, in Journal of the American Heart ... O'Connor C, Chromosomal abnormalities: aneuploidies, in Nature Education, 2008. URL consultato il 24 marzo 2021 (archiviato ...
Sindrome di Edwards
Paskulin, Limb abnormalities on trisomy 18: evidence for early diagnosis., in J Pediatr (Rio J), vol. 88, n. 5, pp. 401-5, DOI: ... McBride, Pediatric sub-specialist controversies in the treatment of congenital heart disease in trisomy 13 or 18., in J Genet ...
Fibrosi cistica
Augarten A, Yahav Y, Kerem BS, et al., Congenital bilateral absence of vas deferens in the absence of cystic fibrosis, in ... Eggermont E, De Boeck K, Small-intestinal abnormalities in cystic fibrosis patients, in Eur. J. Pediatr., vol. 150, n. 12, ... Phillipson GT, Petrucco OM, Matthews CD, Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis ...
Sindrome fetale da citomegalovirus
EN) Congenital CMV Guidelines, su PAEDIATRIC INNOVATION, EDUCATION AND RESEARCH NETWORK. URL consultato il 14 dicembre 2021. ( ... P. Iannetti, N. Del Grosso e E. D'Ambrosio, Neurological and electroencephalographic abnormalities after febrile seizures. ... Stuart P. Adler, Congenital Cytomegalovirus Screening, in The Pediatric Infectious Disease Journal, vol. 24, n. 12, dicembre ... Korndewal, Marjolein J Oudesluys-Murphy, Anne Marie Kroes, Aloys C M Vossen, Ann C T M de Melker, Hester E, Congenital ...
Neuropatia ottica ereditaria di Leber
Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy, in J. Neurol. Neurosurg. ... Leber T. Ueber hereditaere und congenital angelegte sehnervenleiden (1871) Graefes Arch Clin Exp Ophthalmol. 17:249-291 ^ ...
Ipotiroidismo
Grüters A, Krude H., Detection and treatment of congenital hypothyroidism., in Nat Rev Endocrinol, vol. 2, n. 8, 2011 Oct 18, ... Work capacity and oxygen uptake abnormalities in hyperthyroidism., in Minerva Cardioangiol, vol. 54, n. 3, giugno 2006, pp. 355 ... Optimising outcome in congenital hypothyroidism; current opinions on best practice in initial assessment and subsequent ...
Sindrome di Down
EN) B. Stirn Kranjc, Ocular abnormalities and systemic disease in Down syndrome, in Strabismus, vol. 20, n. 2, giugno 2012, pp ... Congenital Malformations, Chicago, Year Book, 1971, pp. 313-14, ISBN 0-8151-9098-0. (EN) Mary Caroline Richards, Toward ... EN) Balkany TJ, Mischke RE, Downs MP, Jafek BW, Ossicular abnormalities in Down's syndrome, in Otolaryngol. Head Neck Surg., ... 77: screening for fetal chromosomal abnormalities., in Obstetrics and gynecology, vol. 109, n. 1, gennaio 2007, pp. 217-27, DOI ...