نتایج جستجو برای: fryns

تعداد نتایج: 99  

2011
Benjamin D Solomon

VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to these core component features, patients may also have other congenital anomalies. Although diagnostic criteria vary, the incidence is estim...

Journal: :American journal of medical genetics 2000
J P Fryns M Borghgraef T W Brown J Chelly G S Fisch B Hamel A Hanauer D Lacombe L Luo J N MacPherson J L Mandel C Moraine J Mulley D Nelson B Oostra M Partington G J Ramakers H H Ropers F Rousseau C Schwartz P Steinbach C Stoll L Tranebjaerg G Turner H Van Bokhoven A Vianna-Morgante

Jean-Pierre Fryns,1 Martine Borghgraef,1 Ted W. Brown,2 Jamel Chelly,3 Gene S. Fisch,4 Ben Hamel,5 André Hanauer,6 Didier Lacombe,7 Ligun Luo,8 James N. MacPherson,9 Jean-Louis Mandel,6 Claude Moraine,10 John Mulley,11 David Nelson,12 Ben Oostra,13 Michael Partington,14 Ger J.A. Ramakers,15 Hans-Hilger Ropers,16 François Rousseau,17 Charles Schwartz,18 Peter Steinbach,19 Claude Stoll,20 Lisbeth...

1999
Diane H. Parente

S ustainable competitive advantage in an organization arises from distinctive competencies that reside deep within the organization. Capabilities, or the way things work together, are intangible sources of distinctive competencies that are not easily imitated. Cross-functional capabilities within an organization are perfect candidates for such distinctive competen-cies because they are both har...

2009
STOR William A. DiMichele

Lepidodendron hickii is tlie only anatomically preserved Carboniferous lepidodendrid with leaf cushions referable to the compression-based L. aculeatum, the type of Lepidodendron. Historically Lepidodendron has come to encompass several kinds of arborescent lycopods with distinctive vegetative and reproductive morphologies, among which no truly intermediate forms are known. These include totall...

2017
Catherine King Sarah Logan Stuart W. Smith Peter Hewins

BACKGROUND Corticosteroids are the basis of treatment for nephrotic syndrome due to minimal change disease (MCD), but 25% of patients have frequently relapsing nephrotic syndrome (FRNS) and 30% become steroid dependent. Prolonged use of conventional immunosuppressants causes significant toxicity. Rituximab (RTX) is now included in guidelines for childhood MCD. Evidence for use in adult MCD is l...

Journal: :Psychiatrike = Psychiatriki 2014
G M Typaldou G Konstantakopoulos I Roxanis A Nidos N Vaidakis G N Papadimitriou A Wells

The Metacognitions Questionnaire-30 (MCQ-30), developed by Wells and Cartwright-Hatton (2004), represents a multidimensional measure of metacognitive factors considered to be important in the metacognitive model of psychological disorders. The primary aim of the present study was to examine internal consistency, test-retest reliability, convergent validity and the factor structure of the Greek ...

Journal: :Archives of ophthalmology 2012
Jingbo Liu Yao Fu Ying Xu Scheffer C G Tseng

OBJECTIVE To report a new grading system and surgical outcome by sealing the gap between the conjunctiva and Tenon capsule. METHODS A total of 32 eyes of 30 patients with pterygia were managed at the Ocular Surface Center from January 1, 2002, through December 31, 2010. The eyes were consecutively operated on by recession; sealing of the gap; covering of exposed medial rectus muscle by amniot...

2007
C Asthana S Sinha J S Haslam H M Kingston

A diagnostic survey was undertaken ofchildren aged 11 to 19 years in Tameside with severe learning difficulties (intelligence quotient s<50). Eighty two children were identified and their medical records reviewed. A specific diagnosis for the retardation was documented in 25 (30%) of the children, 18 of whom had Down's syndrome. A probable aetiology or a disorder of unknown aetiology had been i...

Journal: :Blood 1999
M Togo K Tsukamoto H Satoh M Hara A Futamura H Nakarai K Nakahara Y Hashimoto

Lowe N, Bailey D, Ferguson-Smith M, Carter N: Chromosome specific paints from a high resolution flow karyotype of the mouse. Nat Genet 9:369, 1995 6. Telenius H, Pelmear AH, Tunnacliffe A, Carter NP, Behmel A, Ferguson-Smith MA, Nordenskjold M, Pfragner R, Ponder BA: Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosomes Cancer 4:257, 1992...

Journal: :American journal of medical genetics 2000
L Pereira-Da-Silva F Leal G C Santos J M Videira Amaral M J Feijóo

We read with interest the recent article by Swartz et al. [1999] on vascular abnormalities in Adams-Oliver syndrome (AOS). Although the pathogenesis of this predominantly autosomal-dominant syndrome remains unclear, it has been suggested [Hoyme et al., 1982] that intrauterine vascular disruption involving small-caliber vessels may be responsible for terminal transverse limb defects. It is possi...

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