نتایج جستجو برای: phocomelia

تعداد نتایج: 723  

Journal: :Developmental science 2009
Bob McMurray Richard N Aslin Joseph C Toscano

Recent evidence (Maye, Werker & Gerken, 2002) suggests that statistical learning may be an important mechanism for the acquisition of phonetic categories in the infant's native language. We examined the sufficiency of this hypothesis and its implications for development by implementing a statistical learning mechanism in a computational model based on a mixture of Gaussians (MOG) architecture. ...

2000
R. Vlastou S. Maltezos M. Kokkoris

Rutherford backscattering spectroscopy (RBS) has been used during the development of multilayer thin ®lm optical ®lters, especially designed for the ̄uorescence detector of the Pierre AUGER Project. Depth pro®les of the heavy components have been measured directly, while reliable results for the light components could also be extracted indirectly. Relative thickness and density of the individua...

Journal: :Clinical Interventions in Aging 2008
Franz Halberg Robert B Sothern Germaine Cornélissen Jerzy Czaplicki

BACKGROUND Circadian rhythm stage affects many outcomes, including those of mental aging. METHODS Estimations of 1 minute approximately 5 times/day for a year, 25 years apart, by a healthy male biomedical scientist (RBS), are analyzed by the extended cosinor. RESULTS Cycles of a half-week, a week, approximately 30 days, a half-year and a year, in self-assessed 1-minute estimation by RBS bet...

2015
Matthew P. Soape Rashmi Verma J. Drew Payne Mitchell Wachtel Fred Hardwicke Everardo Cobos

Hepatic epithelioid hemangioendothelioma (HEH) is extremely rare, occurring in 1 to 2 per 100,000, with chemotherapy options not well defined. Our case involved a 49-year-old female who had hepatic masses and metastasis to the lungs with a liver biopsy revealing HEH. After developing a rash from sorafenib, thalidomide was started with the progression of disease stabilized. Resection is only an ...

1971
R. SEEGMILLER H. SHELDON

The occurrence of a new mutation affecting cartilage and bone in mice is reported. The gene is lethal, shows autosomal recessive inheritance, and has high penetrance. It is not allelic to shorthead and probably not to phocomelia or achondroplasia . It results in a foreshortened face, cleft palate, defective trachea, and shortened long bones with flared metaphyses . Chondrocytes of epiphyseal ca...

Journal: :JPMA. The Journal of the Pakistan Medical Association 2014
Mustafa Dogan Fatih Firinci Yasemin Isik Balci Selcan Zeybek Funda Ozgürler Ilkay Erdogan Birgül Varan Cavidan Nur Semerci

Roberts syndrome, which is inherited as an autosomal recessive group of disorders, is a rare syndrome characterized with symmetrical extremity defects, craniofacial abnormalities, and prenatal and postnatal growth retardation. Here, we present a case of Roberts Syndrome brought to the clinic with diarrhoea and multiple abnormalities, that had tetra phocomelia, growth and developmental retardati...

2004

Before 1961, there was very little evidence for drug-induced malformations in humans. But in that year, Lenz and McBride independently accumulated evidence that a mild sedative, thalidomide, caused an enormous increase in a previously rare syndrome of congenital anomalies. The most noticeable of these anomalies was phocomelia, a condition in which the long bones of the limbs are absent (amelia)...

Journal: :Cell cycle 2010
Robert V Skibbens Jutta Marzillier Laura Eastman

Cohesion factors pair together sister chromatids from early S-phase until anaphase onset. Numerous findings also establish an additional role in transcription. In humans, mutations in cohesion factors result in developmental abnormalities such as Cornelia de Lange, Roberts Syndrome/SC-Phocomelia, Rothman-Thompson Syndrome and others. While clinically relevant, a detailed study that links experi...

2010
Esma Alp Hayrullah Alp Mehmet Emre Atabek Özgür Pirgon

Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented...

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