نتایج جستجو برای: costello method

تعداد نتایج: 1630635  

Journal: :Journal of Medical Genetics 1998

2017
DAVID AYALA

Assuming a conjecture about factorization homology with adjoints, we prove the cobordism hypothesis, after Baez–Dolan, Costello, Hopkins–Lurie, and Lurie.

2015
Uduak U. Williams Antoinette K. Van Meter Shannon Popovich Charles E. Cowles Allen A. Holmes Roxana M. Grasu Vianey Q. Casarez Radha Arunkumar Vivian Porche Acsa M. Zavala Pascal Owusu-Agyemang

Costello syndrome (CS) is a rare genetic disorder caused by heterozygous germline Harvey rat sarcoma viral oncogene homolog (HRAS) gene mutations, and characterized by multi-system organ abnormalities. Associated craniofacial, cardiac, neurologic and musculoskeletal abnormalities may pose speci ic anesthetic challenges. Careful pre-anesthetic evaluation and planning is therefore essential to en...

Journal: :Journal of medical genetics 1998
R Pratesi M Santos I Ferrari

The increasing number of children with Costello syndrome described world wide has helped in delineating further the characteristic features of this condition. We report here two children, seen in the Genetic Division of the Brasilia University Hospital, showing the main features of the syndrome: "coarse" face, redundant skin on the feet and hands, hyperextensible hand and finger joints, curly h...

Journal: :Evidence-based mental health 2004
Paul Ramchandani

Costello EJ, Mustillo S, Erkanli A, et al. Prevalence and development of psychiatric disorders in childhood and adolescence. Arch Gen Psychiatry 2003;60:837–44. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...

Journal: :Human molecular genetics 2013
Sybille Lorenz Christina Lissewski Pelin O Simsek-Kiper Yasemin Alanay Koray Boduroglu Martin Zenker Georg Rosenberger

Costello syndrome is a congenital disorder comprising a characteristic face, severe feeding difficulties, skeletal, cardiac and skin abnormalities, intellectual disability and predisposition to malignancies. It is caused by heterozygous germline HRAS mutations mostly affecting Gly(12) or Gly(13), which impair HRAS-GTPase activity and result in increased downstream signal flow independent of inc...

Journal: :American Journal of Ophthalmology Case Reports 2021

2012
Mariam Tajir Patricia Fergelot Gwenaelle Lancelot Benoit Arveiler Siham Chafai Elalaoui Didier Lacombe Abdelaziz Sefiani

Le syndrome de Costello appelé également syndrome Facio-cutanéo-squelettique est une anomalie rare du développement d’origine génétique de transmission autosomique dominante. Sa prévalence est inconnue mais environ 250 cas ont été rapportés dans la littérature. La majorité des cas sont sporadiques. Les principaux signes sont une dysmorphie faciale caractéristique, un retard mental, un retard de...

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