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Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000319258
EISBN: 978-3-8055-9595-7
... with these syndromes. The syndromes discussed here include Antley-Bixler syndrome, Baller-Gerold syndrome, Beare-Stevenson cutis gyrata syndrome, Bohring-Opitz syndrome, C (Opitz trigonocephaly) syndrome, Carpenter syndrome, Crouzon syndrome with acanthosis nigricans, Jackson-Weiss syndrome, Jacobsen syndrome, Loeys...
Book Chapter
Series: Frontiers of Neurology and Neuroscience
Volume: 34
Published: 23 April 2014
10.1159/000356422
EISBN: 978-3-318-02568-2
.... Trends Cogn Sci 2007;11:379-386. 10. Opitz B: Neural binding mechanisms in learning and memory. Neurosci Biobehav Rev 2010;34:1036-1046. 11. Brown MW, Aggleton JP: Recognition memory: what are the roles of the perirhinal cortex and hippocampus? Nat Rev Neurosci 2001;2:51-61. 12. Yonelinas AP...
Book Chapter
Series: Karger eBooks Non-Series Collection
Published: 02 June 2015
EISBN: 978-3-318-03004-4
... 2001;27:369-370. 33. Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M: ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat 2007;28:313-321. 34. Smith DW, Lemli L, Opitz JM: A newly recognized syndrome of multiple congenital anomalies. J Pediatr 1964;64:210-217...
Book Chapter
Series: Karger eBooks Non-Series Collection
Published: 02 June 2015
10.1159/000375216
EISBN: 978-3-318-03004-4
... if there is also a history of seizures or Hirschsprung's disease. The Smith-Lemli-Opitz Syndrome The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by intellectual disability and multiple congenital anomalies. The association of microcephaly, intellectual disability...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
EISBN: 978-3-8055-9595-7
...-Stevenson syndrome. Pediatr Anesth 2006;16:801 56. Opitz JM, Johnson RC, McCreadie SR, Smith DW: The C syndrome of multiple congenital anomalies. Birth Defects Orig Art Ser 1969;5:161-166 57. Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, et al: Mutations in CD96, a member of the immunoglobulin...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
EISBN: 978-3-8055-9595-7
... (Opitz trigonocephaly) syndrome. Am J Hum Genet 2007;81:835-841 9. Harper PS: Practical Genetic Counselling. 6th Oxford, Oxford University Press, 2004; 10. Karadimas C, Trouvas D, Haritatos G, Makatsoris C, Dedoulis E, et al: Prenatal diagnosis of achondroplasia presenting with multiple-suture...
Book Chapter
Series: Progress in Respiratory Research
Volume: 41
Published: 10 April 2012
EISBN: 978-3-8055-9915-3
... Am Coll Cardiol 2009;54:S3-S9 8. Galiè N, Hoeper M, Humbert M, Torbicki A, Vachiery JL, Barbera JA, Beghetti M, Corris P, Gaine S, Gibbs JS, Gomez-Sanchez MA, Jondeau G, Klepetko W, Opitz C, Peacock A, Rubin L, Zellweger M, Simonneau G.: ESC Committee for Practice Guidelines (CPG): Guidelines...
Book Chapter
Series: Progress in Respiratory Research
Volume: 41
Published: 10 April 2012
EISBN: 978-3-8055-9915-3
..., Humbert M, Torbicki A, Vachiery JL, Barbera JA, Beghetti M, Corris P, Gaine S, Gibbs JS, Gomez-Sanchez MA, Jondeau G, Klepetko W, Opitz C, Peacock A, Rubin L, Zellweger M, Simonneau G: Guidelines for the diagnosis and treatment of pulmonary hypertension.. The task force for the diagnosis and treatment...
Book Chapter
Series: Progress in Respiratory Research
Volume: 41
Published: 10 April 2012
EISBN: 978-3-8055-9915-3
...:322-329 22. Opitz CF, et al: Clinical efficacy and survival with first-line inhaled iloprost therapy in patients with idiopathic pulmonary arterial hypertension.. Eur Heart J 2005;26:1895-1902 23. Higenbottam T, Butt AY, McMahon A, Westerbeck R, Sharples L: Long-term intravenous prostaglandin...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
EISBN: 978-3-8055-9595-7
... craniofacial dysmorphology in the mouse is caused by an insertional mutation at the Fgf3/Fgf4 locus. Dev Dyn 1998;212:242-249 59. Kaname T, Yanagi K, Chinen Y, Makita Y Okamoto N, et al: Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
EISBN: 978-3-8055-9281-9
... audience. Hum Mutat 2002;19:501-509 14. Sayers EW, Barrett T, Benson DA, Bryant SH, Canese K, et al: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res 2009;37(Database issue):D5-D15 15. Opitz JM, Smith JF, Santoro L: The FG syndromes (Online Mendelian...
Book Chapter
Series: Progress in Respiratory Research
Volume: 41
Published: 10 April 2012
EISBN: 978-3-8055-9915-3
...References References 1. Galie N, Hoeper MM, Humbert M, Torbicki A, Vachiery JL, Barbera JA, Beghetti M, Corris P, Gaine S, Gibbs JS, Gomez-Sanchez MA, Jondeau G, Klepetko W, Opitz C, Peacock A, Rubin L, Zellweger M, Simonneau G, Vahanian A, Auricchio A, Bax J, Ceconi C, Dean V, Filippatos G...
Book Chapter
Series: Nestlé Nutrition Institute Workshop Series
Volume: 100
Published: 30 November 2024
EISBN: 978-3-318-07346-1
... predicted obesity in relation to cardiovascular disease: a nationwide cohort study . EClinicalMedicine . 2023 ; 58 : 101943 . 3. Lechner L , Opitz R...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000319987
EISBN: 978-3-8055-9595-7
... with craniofacial abnormalities similar to some human craniosynostosis syndromes [ 58 ]. CD96, a member of the immunoglobulin superfamily, has been pointed out as candidate for C (Opitz trigonocephaly) syndrome, which includes premature fusion of the metopic suture as part of the phenotype. The TACTILE gene...
Book Chapter
Series: Progress in Respiratory Research
Volume: 41
Published: 10 April 2012
EISBN: 978-3-8055-9915-3
... macaques.. Am J Respir Crit Care Med 2006;174:437-445 20. Galie N, Hoeper MM, Humbert M, Torbicki A, Vachiery JL, Barbera JA, Beghetti M, Corris P, Gaine S, Gibbs JS, Gomez-Sanchez MA, Jondeau G, Klepetko W, Opitz C, Peacock A, Rubin L, Zellweger M, Simonneau G, Vahanian A, Auricchio A, Bax J, Ceconi C...
Book Chapter
... and human alveolar macrophages. J Immuno l2006;177:673-680 5. Slevogt H, Zabel S, Opitz B, et al: CEACAM1 inhibits Toll-like receptor 2-triggered antibacterial responses of human pulmonary epithelial cells. Nat Immunol 2008;9:1270-1278 6. Khan AQ, Chen Q, Wu ZQ, Paton JC, Snapper CM: Both innate...
Book Chapter
Series: Nestlé Nutrition Institute Workshop Series
Volume: 67
Published: 15 February 2011
EISBN: 978-3-8055-9587-2
... of dietary docosahexaenoic acid on brain composition and neural function in term infants. Lipids 1996;31:(suppl)S177-S181 11. Chan YM, Merkens LS, Connor WE, et al: Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. Pediatr Res 2009;65:681-685 12...
Book Chapter
Series: Frontiers of Neurology and Neuroscience
Volume: 34
Published: 23 April 2014
EISBN: 978-3-318-02568-2
.... 9. Diana RA, Yonelinas AP, Ranganath C: Imaging recollection and familiarity in the medial temporal lobe: a three-component model. Trends Cogn Sci 2007;11:379-386. 10. Opitz B: Neural binding mechanisms in learning and memory. Neurosci Biobehav Rev 2010;34:1036-1046. 11. Brown MW, Aggleton...
Book Chapter
Series: Progress in Neurological Surgery
Volume: 35
Published: 18 December 2020
EISBN: 978-3-318-06795-8
..., Brumberg JC, Bikson M: One-dimensional representation of a neuron in a uniform electric field. Conf Proc IEEE Eng Med Biol Soc 2009;2009:6481–6484. 30. Opitz A, Falchier A, Yan CG, Yeagle EM, Linn GS, Megevand P, Thielscher A, Deborah AR, Milham MP, Mehta AD, Schroeder CE: Spatiotemporal structure...
Book Chapter
Series: Endocrine Development
Volume: 26
Published: 15 September 2014
EISBN: 978-3-318-02721-1
... receptor similar with gnathostome thyrotropin hormone receptor. J Mol Endocrinol 2008;41:219-228. 21. Antonica F, Kasprzyk DF, Opitz R, Iacovino M, Liao XH, Dumitrescu AM, Refetoff S, Peremans K, Manto M, Kyba M, Costagliola S: Generation of functional thyroid from embryonic stem cells. Nature 2012;491...