Presentation
The الصفحة 9 - given in the appendix to the Annex to the present convention. If the language used is neither English nor French, the text shall include a translation into one of these languages. [books.google.com]
The Pagina 9 - given in the appendix to the Annex to the present convention. If the language used is neither English nor French, the text shall include a translation into one of these languages. [books.google.ro]
Acronym PMRED Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Entire Body System
- Broad Thumb
thumb Short palm Tapered finger Myopia Anemia 3-Methylglutaconic aciduria Severe lactic acidosis Severe failure to thrive Hyperammonemia Visual loss Severe muscular hypotonia Spontaneous abortion Horizontal nystagmus Renal hypoplasia Bicuspid aortic [mendelian.co]
- Feeding Difficulties
However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms. [mendelian.co]
Respiratoric
- Hoarseness
Enlarged cisterna magna Concave nasal ridge Laryngomalacia Aplasia/Hypoplasia of the cerebellar vermis Rectourethral fistula Posterior pharyngeal cleft Rectal atresia Vascular ring Laryngeal cleft Short lingual frenulum Hypoplasia of the epiglottis Hoarse [mendelian.co]
Gastrointestinal
- Dysphagia
OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome [mendelian.co]
Musculoskeletal
- Brachydactyly
[…] weakness Mitral regurgitation Facial wrinkling Phalangeal dislocation Testicular torsion Slender toe Abnormality of primary teeth Palmoplantar cutis gyrata Cataract Soft, doughy skin Large joint dislocations Prominent scalp veins Abnormality of the eye Brachydactyly [mendelian.co]
Face, Head & Neck
- Lumpy Skull Surface
UniProtKB/Swiss-Prot : 76 Psychomotor retardation, epilepsy, and craniofacial dysmorphism: A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. [malacards.org]
Format Definition A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period. [uniprot.org]
- Bulbous Nose
[…] forehead Joint laxity Thin upper lip vermilion Pectus carinatum Osteoporosis Arrhythmia Talipes equinovarus Osteopenia Triangular face Hypoplasia of the corpus callosum Microcephaly Wide mouth Depressivity Umbilical hernia Macroglossia Hyperkeratosis Bulbous [mendelian.co]
Neurologic
- Hyporeflexia
[…] hypoplasia Bicuspid aortic valve Oligohydramnios Aciduria Increased serum lactate Recurrent infections Recurrent respiratory infections Lactic acidosis Waddling gait Epiphora Psoriasiform dermatitis Scaling skin Osteolysis Areflexia Decreased body weight Hyporeflexia [mendelian.co]
Treatment
However, the allocation of scarce treatment and prevention against infectious disease is more far reaching. Untreated individuals may infect additional people who could have been spared, had the untreated persons been treated. [isi.it]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care. [web.expasy.org]
Here, depletion of SNIP1 had a significant effect on Cyclin D1 mRNA degradation kinetics, with a rapid decline in postspliced message being seen within the first hours of actinomycin D treatment. [cancerres.aacrjournals.org]
Prognosis
Title: High expression of SNIP1 correlates with poor prognosis in non-small cell lung cancer and SNIP1 interferes with the recruitment of HDAC1 to RB in vitro. [ncbi.nlm.nih.gov]
Epidemiology
His main research interests are in the field of Network Epidemiology. Published on Monday, 28 April 2014 [isi.it]
Prevention
However, the allocation of scarce treatment and prevention against infectious disease is more far reaching. Untreated individuals may infect additional people who could have been spared, had the untreated persons been treated. [isi.it]
Management from the medical home is designed to prevent life-threatening complications and optimize psychomotor development. [epostersonline.com]
This helps avoid repeated freeze-thaw cycles, as well as prevent loss of virus. To maintain accurate titer, aliquot in at least 20ul per tube. [vectorbiolabs.com]
Syndecan-1 acts in synergy with tight junction through Stat3 signaling to maintain intestinal mucosal barrier and prevent bacterial translocation. Inflamm. Bowel Dis. 21, 1894–1907 (2015). 25. Zindl, C.L. et al. [nature.com]
When overexpressed, SNIP1 inhibits transactivation by SMADs and the RelA(p65) nuclear factor-κB subunit, by preventing their interaction with p300 ( 5 ). [cancerres.aacrjournals.org]