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Results 1 - 10 of 1,228 for "s:" Birth Defects
  1. What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?: MedlinePlus Genetics 
    ... must be enough fetal cfDNA in the mother’s bloodstream to be able to identify fetal chromosome abnormalities. The proportion of cfDNA in maternal blood that ...
    https://medlineplus.gov/genetics/understanding/testing/nipt - Genetics
  2. Cleidocranial dysplasia 
    ... a narrow pelvis preventing passage of the infant's head.Dental abnormalities are very common in cleidocranial dysplasia and can ... G. Cleidocranial dysplasia: etiology and stomatognathic and craniofacial ... F, Altunoglu U, Kuvvetli SS, Poyrazoglu S, Toksoy G, Kayserili H, Uyguner ZO. ...
    https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia - Genetics
  3. OPN1SW gene 
    ... threonine at position 190 of S-opsin causes S-cone-function abnormalities. Vision Res. 2012 Nov 15;73:1-9. doi: 10.1016/j.visres.2012.09.007. Epub 2012 Sep 26. Citation on PubMed or Free article on PubMed Central Calkins DJ. Seeing with S cones. Prog Retin Eye Res. 2001 May;20( ...
    https://medlineplus.gov/genetics/gene/opn1sw - Genetics
  4. Familial pityriasis rubra pilaris 
    ... altered gene from a parent develops the condition's characteristic skin abnormalities.The other types of pityriasis rubra pilaris are sporadic, which means they occur in people with no history of the disorder in their family. Familial PRP ... Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, ...
    https://medlineplus.gov/.../familial-pityriasis-rubra-pilaris - Genetics
  5. Aicardi syndrome 
    ... of corpus callosum with infantile spasms and ocular abnormalities Aicardi's syndrome Callosal agenesis and ocular abnormalities Chorioretinal anomalies ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  6. Familial atrial fibrillation 
    Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which ...
    https://medlineplus.gov/.../condition/familial-atrial-fibrillation - Genetics
  7. FBN1 gene 
    ... that affects the connective tissue supporting the body's joints and organs. Abnormalities in the connective tissue lead to heart and ... RE. Association of mitral valve prolapse and systemic abnormalities of ... Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  8. Timothy syndrome 
    ... recharge between beats. This abnormality in the heart's electrical system can cause severe abnormalities of the heart rhythm (arrhythmias), which can lead ...
    https://medlineplus.gov/genetics/condition/timothy-syndrome - Genetics
  9. CACNA1C gene 
    ... recharge between beats. This abnormality in the heart's electrical system can cause severe abnormalities of the heart rhythm (arrhythmias), which can lead ...
    https://medlineplus.gov/genetics/gene/cacna1c - Genetics
  10. ACP5 gene 
    ... the immune system malfunctions and attacks the body's own tissues and organs. Immune system abnormalities also impair the body's normal response to harmful invaders, resulting in frequent ...
    https://medlineplus.gov/genetics/gene/acp5 - Genetics
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