نتایج جستجو برای: piebaldism

تعداد نتایج: 207  

2009
Koki Moriyoshi

A novel yeast three-hybrid (Y3H) vector pBT was developed, which contains a tetracycline (Tet)-sensitive transactivator (tTA) expression unit and a Tet-responsive element (TRE)-driven 3rd protein expression unit within a single plasmid. To optimize tTA expression levels, several promoters for driving tTA expression were tested, and the weakest human cytomegalovirus (CMV) promoter showed the bes...

Journal: :Journal of medical genetics 1997
A Schinzel C P Braegger L Brecevic F Dutly F Binkert

A very short, microcephalic, and mentally retarded 2 year old girl showed minor anomalies including prominent occiput, delayed closure of the anterior fontanelle, high frontal hairline, prominent ears, upward slanting palpebral fissures, a small nose with bulbous tip, delayed tooth eruption and bone maturation, and short and tapering fingers and toes. She did not have a white forelock. Cytogene...

2016
S.-H. Renn C. Raynaud F. Balestra

Floating body and hot carrier effects are thoroughly investigated in deep submicron Nand Pchannel ultra-thin film SO1 MOSFETs for a wide temperature range. A strong reduction of the parasitic bipolar transistor is obtained with decreasing the temperature (at 77K) and with a grounded substrate. However, the action of the PBT is not completely suppressed even at 77K with a body terminal. Substant...

Journal: :The Journal of Cell Biology 2001
Philippe Bahadoran Edith Aberdam Frédéric Mantoux Roser Buscà Karine Bille Nevin Yalman Geneviève de Saint-Basile Ricardo Casaroli-Marano Jean-Paul Ortonne Robert Ballotti

Normal pigmentation depends on the uniform distribution of melanin-containing vesicles, the melanosomes, in the epidermis. Griscelli syndrome (GS) is a rare autosomal recessive disease, characterized by an immune deficiency and a partial albinism that has been ascribed to an abnormal melanosome distribution. GS maps to 15q21 and was first associated with mutations in the myosin-V gene. However,...

2017
Fatih Demircioğlu Hilal Aydın Mustafa Erkoçoğlu Hüseyin Önay Emine Dağıstan

A 12-month-old female infant was referred to our hospital with prolonged fever and status epilepticus. Her weight and height were below the 5th percentile for age. Physical examination revealed marked hypotonia, fever, pallor, partial albinism with silvery gray hair, and hepatosplenomegaly (Figure 1A). Laboratory investigations showed anemia, thrombocytopenia, hypofibrinogenemia, hyperferritine...

2010
Gregorio M. Vélez-García Syed M. Mazahir Peter Wapperom Donald G. Baird

The mechanical properties of injection molded short-fiber reinforced thermoplastic composite parts are highly dependent on the orientation distribution of the fibers. A simulation tool capable of predicting fiber orientation accurately as a function of mold design and processing conditions is required as the predicted fiber orientation capabilities in commercial software show large discrepancie...

2010
Jong-Wook Yoon Sung-Hun Kim Jai-Bong Lee Jung-Suk Han Jae-Ho Yang

PURPOSE The objective of this study was to evaluate fracture strength of collarless metal-ceramic FPDs according to their metal coping designs. MATERIALS AND METHODS Four different facial margin design groups were investigated. Group A was a coping with a thin facial metal collar, group B was a collarless coping with its facial metal to the shoulder, group C was a collarless coping with its f...

2017
Karol Deutsch Janusz Śledź Mariusz Mazij Bartosz Ludwik Michał Labus Dariusz Karbarz Bernadetta Pasicka Michał Chrabąszcz Arkadiusz Śledź Monika Klank-Szafran Laura Vitali-Sendoz Tomasz Kameczura Jerzy Śpikowski Piotr Stec Marek Ujda Sebastian Stec

Radiofrequency catheter ablation (RFCA) is an established effective method for the treatment of typical cavo-tricuspid isthmus (CTI)-dependent atrial flutter (AFL). The introduction of 3-dimensional electro-anatomic systems enables RFCA without fluoroscopy (No-X-Ray [NXR]). The aim of this study was to evaluate the feasibility and effectiveness of CTI RFCA during implementation of the NXR appro...

2015

We present two cases of 3 months old non identical twins, an outcome of a consanguineous marriage. They were delivered to an uneventful pregnancy via Caesarean Section due to twin pregnancy. They presented with, failure to thrive, feeding reflux regurgitation, developmental delay, left sided focal tonic clonic seizures since they were 7 days old. They had a past history of a chest infection, on...

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