Achondroplasia Study guides, Class notes & Summaries
Looking for the best study guides, study notes and summaries about Achondroplasia? On this page you'll find 341 study documents about Achondroplasia.
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BIOCHEMISTRY USMLE STEP 1 EXAM QUESTIONS WITH CORRECT ANSWERS
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BIOCHEMISTRY USMLE STEP 1 EXAM QUESTIONS WITH CORRECT ANSWERS 
Achondroplasia involves what defect? -ANS_ Cell-signlaling defect of fibroblast growth factor (FGF) receptor 3 
 
The splicesome exsises introns or exons? -ANS_ Introns 
 
What chemotherap agent inhibits thymidylate synthase (therefore decreasing pyrmidine synthesis for DNA)? -ANS_ 5-fluorouracil
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NBME 30| Questions and Answers, 100% Correct
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NBME 30| Questions and Answers, 100% Correct 
difference b/w Kwashiorkor & Marasmus 
- kwashiorkor (edematous malnutrition): marasmus PLUS EDEMA 
- marasmus (WASTING SYNDROME): skin lesions, fatty liver, acute proteinenergy malnutrition with decreased arm circumference, weight per length or BMI 
deformation 
disruption in organ morphogenesis occurring AFTER embryonic period; extrinsic 
force limits normal organ development 
vascular changes in chronic HTN 
- hyaline arteriolosclerosis: protein...
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NBME 30 || with Error-free Solutions.
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difference b/w Kwashiorkor & Marasmus correct answers - kwashiorkor (edematous malnutrition): marasmus PLUS EDEMA 
 
- marasmus (WASTING SYNDROME): skin lesions, fatty liver, acute protein-energy malnutrition with decreased arm circumference, weight per length or BMI 
 
deformation correct answers disruption in organ morphogenesis occurring AFTER embryonic period; extrinsic force limits normal organ development 
 
vascular changes in chronic HTN correct answers - hyaline arteriolosclerosis: prot...
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Med tecc final questions with complete solutions 2023/2024
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Med tecc finalabdominocentesis - correct answer Surgical puncture to remove fluid from abdomen 
 
Achondroplasia - correct answer Without cartilage development 
 
acromegaly - correct answer Extreme enlargement 
 
acrophobia - correct answer Extreme fear of heights 
 
Acute - correct answer Rapid 
 
Adenoids - correct answer Resembling a gland 
 
Adipose - correct answer Pertaining to fat 
 
agoraphobia - correct answer Fear of open spaces; market place fear 
 
amniocentesis - correct answer sur...
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ABGC Board Study Genes Questions and Answers 100% Solved
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ABGC Board Study Genes Questions 
and Answers 100% Solved 
congenital adrenal hyperplasia ️️CYP21A2 
congenital adrenal hyperplasia ️️CYP17A1 
congenital adrenal hyperplasia ️️CYP11B1 
22q11.2 deletion syndrome ️️TBX1 
achondrogenesis ️️COL2A1 
achondroplasia ️️FGFR3 
Adelaide (Muenke) ️️FGFR3 
ADPKD ️️PKD1 
ADPKD ️️PKD2
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3340 FINAL EXAM QUESTIONS AND ANSWERS
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start of quiz 1: Parents of a newborn are confused when their child is diagnosed with a genetic disorder because neither of them has a defect. Testing is done and it is determined that both parents are carriers of the disorder even though they are asymptomatic. Understanding the principles of the Mendelian Pattern of Inheritance, the nurse determines what condition is the likely reason for this genetic disorder? 
X-linked dominant condition 
Autosomal dominant condition 
X-linked recessive condi...
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NBME 30| Questions and Answers, 100% Correct
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NBME 30| Questions and Answers, 100% Correct 
difference b/w Kwashiorkor & Marasmus 
- kwashiorkor (edematous malnutrition): marasmus PLUS EDEMA 
- marasmus (WASTING SYNDROME): skin lesions, fatty liver, acute proteinenergy malnutrition with decreased arm circumference, weight per length or BMI 
deformation 
disruption in organ morphogenesis occurring AFTER embryonic period; extrinsic 
force limits normal organ development 
vascular changes in chronic HTN 
- hyaline arteriolosclerosis: protein...
-
CMMB 403 Midterm 1 Question and answers already passed 2024
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CMMB 403 Midterm 1 Question and answers already passed 2024Describe the RTK signal transduction pathway when activated by the FGF ligand 
FGF ligand dimerizes RTK receptor. Receptor is phorphorylated and attracts adaptor/GEF. GEF begins phosphorylation cascade: GEF to Ras to Raf to Mek to Erk to TF. TF transcribes gene 
 
 
Describe the JAK-STAT pathway when activated by FGF 
FGF ligand dimerizes RTK. JAK2 proteins cross-phosphorylate. Both JAK2s phosphorylate a STAT5 (which is a cytoplasmic tyr...
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HOSA Pathophysiology Question and answer 100% correct 2024
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HOSA Pathophysiology Question and answer 100% correct 2024 HOSA Pathophysiology Question and answer 100% solved 2023 
 
Abruptio Placentae - correct answer Premature separation of the placenta from the uterus prior to or during birth 
 
Acetylcholine - correct answer Neurotransmitter of the parasympathetic nervous system 
 
Achlorhydria - correct answer A condition in which hydrochloric acid is absent in the stomach 
 
Achondroplasia - correct answer An autosomal dominant disorder of...
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HOSA Pathophysiology Question and answer 100% correct 2023
- Exam (elaborations) • 19 pages • 2023
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HOSA Pathophysiology Question and answer 100% correct 2023Abruptio Placentae - correct answer Premature separation of the placenta from the uterus prior to or during birth 
 
Acetylcholine - correct answer Neurotransmitter of the parasympathetic nervous system 
 
Achlorhydria - correct answer A condition in which hydrochloric acid is absent in the stomach 
 
Achondroplasia - correct answer An autosomal dominant disorder of defective cartilage formation in the fetus 
 
Achondroplastic...
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