81. Institut Für Humangenetik of a chromosome 1;22 translocation in a patient with costello syndrome. the gene for Noonan syndrome, PTPN11, in 18 patients with costello syndrome. http://ihg.uke.uni-hamburg.de/publikationen.de.php?forscher=kk

82. Disruption Of The PDGFB Gene In A 1;22 Translocation Patient Does Not Cause Cost We studied a female patient initially diagnosed with costello syndrome who carries In 18 patients with costello syndrome, mutation analysis of the genes http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/10553779.html

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome .We studied a female patient initially diagnosed with Costello syndrome who carries an apparently balanced translocation, t(1;22) (q24.3;q13.1). Molecular characterization of the translocation revealed a mosaic of two derivative chromosomes 1 in her peripheral blood lymphocytes, in one of which the coding region of the platelet-derived growth factor ( PDGFB ; chromosome 22q13.1) gene was disrupted. Both the initial translocation and the secondary intrachromosomal rearrangement appear to have occurred by nonhomologous (illegitimate) recombination. In 18 patients with Costello syndrome , mutation analysis of the genes belonging to the PDGF/R family, PDGFA PDGFB PDGFC PDGFD ... PDGFRA , and PDGFRB , revealed no pathogenic mutations. Reevaluation of the clinical symptoms of the translocation patient challenges the diagnosis of Costello syndrome in this patient. In total RNA isolated from lymphocytes of the translocation patient, we identified four different fusion transcripts consisting of

83. GLB1 - Beta-galactosidase-related Protein Precursor loss of EBP from fibroblasts of costello syndrome patients is associated and high proliferation of fibroblasts from costello syndrome are related to http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/88648.html

Upregulation of MMP-2 activation by ED led to enhanced melanoma cells invasion through S-Gal occupancy. Abstract-10372637 We hypothesize that ED following interactions with S-Gal elastin receptor can favor melanoma cells invasion through a three-dimensional type I collagen matrix by upregulating MMP-2 activation. Abstract-10372637 These data confirm that PPCA is present in two functional complexes one with and NEU1 in the lysosomal lumen and the other with EBP at the cell surface. Abstract-10420435 Immunohistochemistry studies, confirmed that S-Gal expression was more prominent at the melanoma invasion site associated with a strong expression of MMP-2 and MT1-MMP Abstract-10372637 A novel elastin-binding protein EBP-37 , was recently identified and purified from human plasma. Abstract-906098 These properties are those of a lysosomal acid beta-galactosidase rather than of a brush border neutral lactase Abstract-3688351 One is a Mr 63,000 protein encoded by the

84. Publication Is the locus for costello syndrome on 11p? Publication or Journal, J Med Genet. Volume, 40. Page Numbers, 46971. Year Published, 2003. Authors http://www.medicine.manchester.ac.uk/research/PubDetails/index.aspx?ID=14141

85. EP Magazine Issues - May 2003: Mobility 115 Nicole’s Answer costello syndrome By Arnold Kim A family’s search for a diagnosis leads them to an unexpected answer—a rare disease called Costello http://www.eparent.com/magazine/may03_magazine.htm

RESOURCES EDUCATION HEALTHCARE LIFE PLANNING ... TOYS Eparent Services: Reader Feedback EP Bookstore Archived Articles Publisher's Message ... Children's Page Search Eparent: Table of Contents: May 2003 Mobility Cover Story: 24 A True Calling By Laura Apel Tim Wakefield, pitcher for the Boston Red Sox, is making a difference in his Florida hometown by raising money for a special school. 28 Ride Away By Julia Steele Reid Why Marc Lore chose Ride-Away, how he made it the success it has become and the many ways he gives back to his customers. 30 A First for Toyota Toyota, together with Independent Mobility Systems, has announced the release of their first mobility vehicle in the US. Beginning in June, they will offer a modified version of the 2004 Sienna. 32 Financing Your Mobility Needs The American Association of People With Disabilities (AAPD) has created a partnership with DCU that will allow members to take out extended loans in order to meet their mobility needs. 34 - 57 Special Mobility Advertisement Section Features 58 Hero of the Day By Julia Steele Reid Our Small Planet Productions has recently released an independent Michigan author Johnnie Tuitel, who also has CP.

86. Genetics And Molecular Biology - Patton MA and Baraitser M (1993) Cutis laxa and the costello syndrome. J Med Genet 30622. Patton MA, Tolmie J, Ruthnum P, Bamforth S, Baraitser M and http://www.scielo.br/scielo.php?pid=S1415-47572005000200001&script=sci_arttext&t

87. CFC International One male child was seen with costello syndrome. He had a cranial nerve 4 palsy, with a head tilt and higher eye on one side relative to the other. http://www.cfcsyndrome.org/conference-summary.htm

CFC International 183 Brown Rd. Vestal, NY 13850 phone: 607.772.9666 fax:607.748.0409 bconger@cfcsyndrome.org CFC International is a source of information, formed to raise awareness and educate the public as well as families about Cardio-Facio-Cutaneous Syndrome. Here you will get a closer look of who we are, what we do, and how you can contact us for more information or to find out how you can help support our efforts. Cardio-Facio-Cutaneous Syndrome Conference Ophthalmic Findings Summary, Rockville Maryland- June 2003 Of the CFC children, the age range was 2-14 years, with an average age of 7.3 years. Eight males and 4 females were examined. Eight of the 12 CFC children had strabismus, or eye misalignment. Four had an esotropia, where the eyes turn inward, and 4 had exotropia, where the eyes turn outward. Two children had nystagmus, where the eyes move constantly in a rhythmic manner. This suggests poorer visual development early on as a neonate. Two children were poor fixators, so their eye alignment was not determined. Seven of the 12 CFC children had a spectacle correction - 5 were for hyperopia or farsightedness, and 1 was for myopia or nearsightedness. One child had a correction, but did not wear them to the meeting.

88. CFC International DIFFERENTIAL DIAGNOSIS Noonan syndrome, costello syndrome In the costello syndrome, there is worse skin involvement with the presence of calluses on http://www.cfcsyndrome.org/clinical-synopsis.htm

CFC International 183 Brown Rd. Vestal, NY 13850 phone: 607.772.9666 fax:607.748.0409 bconger@cfcsyndrome.org CFC International is a source of information, formed to raise awareness and educate the public as well as families about Cardio-Facio-Cutaneous Syndrome. Here you will get a closer look of who we are, what we do, and how you can contact us for more information or to find out how you can help support our efforts. Clinical Synopsis Cardiofaciocutaneous Syndrome John M. Opitz, MD, Professor of Pediatrics (Medical Genetics), University of Utah, USA Brenda Conger, CFC Family Network, USA SYNONYMS CFC syndrome Cardio-facio-cutaneous syndrome DEFINITION Cardiofaciocutaneous (CFC) syndrome is a relatively rare genetic disorder first described by Reynolds et al. in 1986 based on the observation of eight unrelated patients with very similar facial appearance characterized by unusually sparse, brittle, curly hair, large head (macrocephaly), a prominent forehead, and abnormal narrowing of the sides of the forehead (bitemporal constriction); mental retardation; failure to thrive; congenital heart defect; short stature and ectodermal abnormalities. DIFFERENTIAL DIAGNOSIS: Noonan syndrome, Costello syndrome

89. Retrovirally Mediated Overexpression Of Versican V3 Reverses Impaired Elastogene The phenotypic resemblance of patients with costello syndrome and Hurler disease has been linked to impaired formation of elastic fibers that coincides with http://ajp.amjpathol.org/cgi/content/abstract/164/1/119

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS This Article Full Text Full Text (PDF) Purchase Article ... View Shopping Cart Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Hinek, A. Articles by Wight, T. N. American Journal of Pathology. American Society for Investigative Pathology Retrovirally Mediated Overexpression of Versican V3 Reverses Impaired Elastogenesis and Heightened Proliferation Exhibited by Fibroblasts from Costello Syndrome and Hurler Disease Patients Aleksander Hinek Kathy R. Braun Kela Liu Yanting Wang and Thomas N. Wight From the Hospital for Sick Children, Toronto, Canada; the Departments of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada; and the Department of Vascular Biology, The Hope Heart Institute, Seattle, Washington The phenotypic resemblance of patients with Costello syndrome and Hurler disease has been linked to impaired formation of elastic fibers that coincides with elevated cellular proliferation.

90. Retrovirally Mediated Overexpression Of Versican V3 Reverses Impaired Elastogene The phenotypic resemblance of patients with costello syndrome and Hurler disease Other manifestations of costello syndrome include soft skin with excess http://ajp.amjpathol.org/cgi/content/full/164/1/119

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS This Article Abstract Full Text (PDF) Purchase Article ... View Shopping Cart Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Hinek, A. Articles by Wight, T. N. American Journal of Pathology. American Society for Investigative Pathology Retrovirally Mediated Overexpression of Versican V3 Reverses Impaired Elastogenesis and Heightened Proliferation Exhibited by Fibroblasts from Costello Syndrome and Hurler Disease Patients Aleksander Hinek Kathy R. Braun Kela Liu Yanting Wang and Thomas N. Wight From the Hospital for Sick Children, Toronto, Canada; the Departments of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada; and the Department of Vascular Biology, The Hope Heart Institute, Seattle, Washington Abstract Top Abstract Materials and Methods Results Discussion References The phenotypic resemblance of patients with Costello syndrome and Hurler disease has been linked to impaired formation of elastic fibers that coincides with elevated cellular proliferation.

91. Internet Is Useful For Information On Rare Conditions -- Dearlove Et Al. 315 (71 Journals and the internet letters. BMJ 1997;31413512. (3 May.) Free Full Text; Dearlove OR, Harper N. costello syndrome. Paediatr Anaesth (in press). http://bmj.bmjjournals.com/cgi/content/full/315/7106/491/a

Home Help Search Archive ... Table of Contents Author Keyword(s) Vol Page [Advanced] This article Extract Respond to this article Alert me when this article is cited Alert me when responses are posted ... Alert me when a correction is posted Services Email this article to a friend Find similar articles in BMJ Alert me to new issues of the journal Download to citation manager PubMed Articles by Dearlove, O. R Articles by Stone, C. BMJ Letters Internet is useful for information on rare conditions internet do not mention its usefulness in providing information that is time sensitive in patients' care. We were asked to anaesthetise a child with Costello syndrome (of which around 20 cases have been recorded) for an emergency laparotomy at night. On that night the child's father offered all references (but not texts) on the syndrome from the page he maintained on the world wide web. The child's chief signs were vomiting from obstruction, dehydration, and cardiac arrhythmias, all of which are important to an anaesthetist.

92. FvO Vragenplein / Syndromen En Specifieke Handicaps / Diversen / Wat Is De Ziekt Onze zoon Maël is 6,5 jaar en heeft costello syndrome. Wij zijn in contact met 2 andere kan je de informatie of costello syndrome naar ons sturen? http://www.fvo.nl/vragenplein/thread.php?id=95&site=1

93. Azfamily.com | News For Phoenix, Arizona | Health & Fitness: Healthy Living Right now there are about 150 babies diagnosed with costello syndrome worldwide. This text is invisible on the page, but this text is affected by the http://www.azfamily.com/health/living/stories/KTVKHLiving20050805.456e5214.html

Healthy Life Phoenix, Arizona Customize Make This Your Home Page E-mail newsletters MySpecialsDirect ... E-mail it to a friend Rare genetic disorder affects Valley 4-year-old 05:04 PM Mountain Standard Time on Friday, August 5, 2005 By 3TV Becoming a parent can be an exciting time, but when your child becomes sick, life changes. In one Valley mom's case, it's a constant waiting game because the symptoms her 4-year-old daughter faces could turn deadly. Costello Syndrome For more information, visit www.costellokids.org.uk or contact Andy Hendrickson or Michelle Lucero with the Costello Support Group at the Spring of Life Church by calling (480) 218-1456. While Priscilla Lucero may act normal, just before her second birthday doctors diagnosed her with Costello Syndrome, a rare genetic disorder that affects multiple organ systems of the body. "She probably wouldn't walk until she was 3 or 4 years old," said Michelle Lucero, Priscilla's mom. "She probably wouldn't eat solid foods until she is as old as 7." The syndrome not only delays a child from developing at a normal pace, it can also trigger some forms of heart disease, certain cancers and seizures.

94. Grouping Of Multiple-Lentigines/LEOPARD And Noonan Syndromes On The PTPN11 Gene neurofibromatosisNoonan syndrome (NFNS MIM 601321), and costello syndrome CFCS MIM 115150, NFNS MIM 601321, costello syndrome MIM *218040, http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=379170

95. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page Le syndrome de costello est caractérisé par un retard de croissance postnatal, des traits épais, un excès de peau au niveau du cou, des paumes, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3071

96. Infant Teaches Christmas Spirit The chances of being born with the syndrome are only one in 60 million. The syndrome was first detailed by Dr. costello, a pediatrician from New Zealand who http://www.fuquay-varinaindependent.com/news/2003122400551.html

Fuquay-Varina Independent, Gavin's first photo with Santa and his brother, Dylan, and sister, Taylor. Infant teaches Christmas spirit By Kirk Nuss staff writer kirkenuss@hotmail.com December 24, 2003 Many of us may look under the tree this holiday season for the biggest gift. After all, we may assume, the bigger the better. For Denise and David Bailey and their children Dylan, 7, and Taylor, 4, they have learned this holiday season that "Good things come in small packages." Denise and David's youngest child, Gavin, who will be seven months old this Dec. 28, currently weighs 12 pounds 6 ounces, well under the average weight for his age of 17 pounds. In fact, he is more the size of an average two month old. He did not start out so small-weighing 8 pounds at his birth on May 28, 2003. Gavin experienced some difficulty eating as a newborn but is eating fine now. But due to a congenital heart defect, he is diverting every calorie to maintain his heart. He has gone through four surgeries since July and will need one more within the next few weeks. His heart is working overtime to pump due to holes in the heart, and surgeons are not sure how best to repair them at this point. Gavin was tentatively diagnosed (there is no conclusive test) at five weeks old with Costello Syndrome, an extremely rare disease that has only been diagnosed in 150 people worldwide-of which only 26 cases are not disputed. The chances of being born with the syndrome are only one in 60 million.

97. The Agitated Camera It is from this ‘costellosyndrome’ that the cinematographic elements in The My term ‘the costello-syndrome’ is thus merely meant as a descriptive http://imv.au.dk/publikationer/pov/Issue_10/section_3/artc2A.html

P:O.V. No.10 - Aspects of Dogma, On THE CELEBRATION The Agitated Camera A diagnosis of Anthony Dod Mantle’s camera work in The Celebration Thomas Lind Laursen This brief essay proposes an analysis of the camera work in Thomas Vinterberg’s The Celebration and concludes with an intentionally provocative critique of that camera work and the dogma concept which inspired it. The Celebration is made to look like a home video – the sort which is customarily shot at family get-togethers. As such the choice of medium befits the setting as well as the subject of the film. Even more so because the grainy, fragmentary video picture offers an emblematic image of the family ties, and because the handheld camera produces an overwhelming phenomenological account of the hectic and claustrophobic experience of a family reunion. There are no classical p.o.v. shots in The Celebration, only conversational ones (i.e. ‘over-the-shoulder-shots’) . In an illusory way these shots seem the more simple and less constructed of the two since the camera (in theory) can work without the participation of the recorded characters, seeing that it doesn’t have to swap positions with them. Therefore the nearly exclusive use of conversational p.o.v. shots in effect makes the film look like a simple amateur recording, even if this is far from being the actual case . But it does more than this. It reduces the viewer of the film to a witness rather than a participator when it comes to the emotional focus of the film, as it makes us relate to rather than identify with its central character.

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