نتایج جستجو برای: facial dysmorphism

تعداد نتایج: 60752  

Journal: :Eukaryotic cell 2012
Nikki D Charlton Jun-Ya Shoji Sita R Ghimire Jin Nakashima Kelly D Craven

Hyphal anastomosis, or vegetative hyphal fusion, establishes the interconnection of individual hyphal strands into an integrated network of a fungal mycelium. In contrast to recent advances in the understanding of the molecular basis for hyphal anastomosis, knowledge of the physiological role of hyphal anastomosis in the natural habitats of filamentous fungi is still very limited. To investigat...

2017
Mikako Hirakawa Tasuku Nishihara Kazuo Nakanishi Sakiko Kitamura Sonoko Fujii Keizo Ikemune Kentaro Dote Yasushi Takasaki Toshihiro Yorozuya

RATIONALE Coffin-Lowry syndrome (CLS) is a rare inherited disease with specific clinical features, such as mental retardation, facial dysmorphism, and cardiac abnormality. In particular, the characteristic facial features of CLS, including retrognathia and large tongue, are associated with difficult ventilation and/or intubation, which is a serious problem of anesthesia management. However, cas...

Journal: :Journal of medical genetics 2000
V Cormier-Daire J Amiel S Vuillaumier-Barrot J Tan G Durand A Munnich M Le Merrer N Seta

EDITOR—Congenital disorders of glycosylation (CDG) are a heterogeneous group of autosomal recessive multisystemic conditions causing severe central nervous system and multivisceral disorders resulting from impairment of the glycosylation pathway. Two disease causing mechanisms have been identified so far. CDG I is caused by a defect in the assembly of the dolicholpyrophosphate oligosaccharide p...

Journal: :Journal of medical genetics 2004
D Genevieve C Baumann C Huber L Faivre D Sanlaville C Bodemer S Hadj-Rabia A Assoumou A Verloes F Raqbi A Munnich V Cormier-Daire

Journal: :Journal of medical genetics 1999
S M Price R Stanhope C Garrett M A Preece R C Trembath

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism and asymmetry are considered typical features of the syndrome, although the range of phenotypic variance is unknown. Fifty seven subjects varying in age from 0.84 to 35.01 years, in whom the diagno...

2003
Hiroshi Kuroda Kazuaki Takano Nobuyuki Ueki Hiroshi Kondoh

OVERVIEW: Recently, there has been an increase in the practical application of ACC (adaptive cruise control) systems, which measure the following distance to the preceding vehicle by radar and automatically maintain an appropriate following distance, and lane keeping systems, which recognize lanes using vision sensors and keep the vehicle from deviating from the lane. Current systems are based ...

2017
Eun-Kyung Cho Jinsup Kim Aram Yang Sung Yoon Cho Dong-Kyu Jin

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformation...

Journal: :American journal of human genetics 2010
Asli Sirmaci Tom Walsh Hatice Akay Michail Spiliopoulos Yıldırım Bayezit Sakalar Aylin Hasanefendioğlu-Bayrak Duygu Duman Amjad Farooq Mary-Claire King Mustafa Tekin

Distinctive facial features consisting of hypertelorism, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, periumbilical defects, and skeletal anomalies are seen in autosomal-recessive Carnevale, Malpuech, Michels, and oculo-skeletal-abdominal (OSA) syndromes. The gene or genes responsible for these syndromes were heretofore unknown. We report on three individuals from two con...

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