lunes, 14 de enero de 2019

Newborn screening AND (genetic OR genomic) AND review - PubMed - NCBI

Newborn screening AND (genetic OR genomic) AND review - PubMed - NCBI

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PubMed comprises more than 27 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.


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Items: 1 to 20 of 1361

1.
Carnitine Palmitoyltransferase II Deficiency.
Wieser T.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2004 Aug 27 [updated 2019 Jan 3].

PMID:
 
20301431
 
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2.
MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency.
Nordenstrom A, Falhammar H.
Eur J Endocrinol. 2018 Dec 1. pii: EJE-18-0712.R2. doi: 10.1530/EJE-18-0712. [Epub ahead of print] Review.

PMID:
 
30566904
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3.
Junctional Epidermolysis Bullosa.
Pfendner EG, Lucky AW.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Feb 22 [updated 2018 Dec 20].

PMID:
 
20301304
 
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4.
Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence.
Paiva Coelho M, Martins E, Vilarinho L.
Eur J Pediatr. 2019 Jan;178(1):21-32. doi: 10.1007/s00431-018-3292-x. Epub 2018 Dec 7. Review.

PMID:
 
30535772
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5.
The increasing challenge of genetic counseling for cystic fibrosis.
Foil KE, Powers A, Raraigh KS, Wallis K, Southern KW, Salinas D.
J Cyst Fibros. 2018 Dec 7. pii: S1569-1993(18)30764-1. doi: 10.1016/j.jcf.2018.11.014. [Epub ahead of print] Review.

PMID:
 
30527892
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6.
The current state of sickle cell trait: implications for reproductive and genetic counseling.
Pecker LH, Naik RP.
Hematology Am Soc Hematol Educ Program. 2018 Nov 30;2018(1):474-481. doi: 10.1182/asheducation-2018.1.474. Review.

PMID:
 
30504348
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7.
Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature.
Saral NY, Aksungar FB, Aktuglu-Zeybek C, Coskun J, Demirelce O, Serteser M.
World J Clin Cases. 2018 Nov 26;6(14):786-790. doi: 10.12998/wjcc.v6.i14.786.

PMID:
 
30510944
 
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8.
Hunter Syndrome: Is It Time to Make It Part of Newborn Screening?
Joseph R, DiCesare EB, Miller A.
Adv Neonatal Care. 2018 Dec;18(6):480-487. doi: 10.1097/ANC.0000000000000569.

PMID:
 
30499826
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9.
Simpson-Golabi-Behmel Syndrome Type 1.
Sajorda BJ, Gonzalez-Gandolfi CX, Hathaway ER, Kalish JM.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Dec 19 [updated 2018 Nov 29].

PMID:
 
20301398
 
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10.
Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review.
Al-Sadeq D, Abunada T, Dalloul R, Fahad S, Taleb S, Aljassim K, Al Hamed FA, Zayed H.
Respirology. 2019 Feb;24(2):127-136. doi: 10.1111/resp.13437. Epub 2018 Nov 12. Review.

PMID:
 
30419605
 
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11.
Changing respiratory expectations with the new disease trajectory of nusinersen treated spinal muscular atrophy [SMA] type 1.
Fitzgerald DA, Doumit M, Abel F.
Paediatr Respir Rev. 2018 Sep;28:11-17. doi: 10.1016/j.prrv.2018.07.002. Epub 2018 Jul 12. Review.

PMID:
 
30414815
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12.
Foundation of the Newborn Screening Translational Research Network and its tools for research.
Lloyd-Puryear M, Brower A, Berry SA, Brosco JP, Bowdish B, Watson MS.
Genet Med. 2018 Nov 5. doi: 10.1038/s41436-018-0334-8. [Epub ahead of print] Review.

PMID:
 
30393376
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13.
Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).
Kuo CY, Signer R, Saitta SC.
Curr Allergy Asthma Rep. 2018 Oct 30;18(12):75. doi: 10.1007/s11882-018-0823-5. Review.

PMID:
 
30377837
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14.
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
Peters C, van Trotsenburg ASP, Schoenmakers N.
Eur J Endocrinol. 2018 Sep 24. pii: EJE-18-0383. doi: 10.1530/EJE-18-0383. [Epub ahead of print]

PMID:
 
30324792
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15.
Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism.
Mussap M, Zaffanello M, Fanos V.
Ann Transl Med. 2018 Sep;6(17):338. doi: 10.21037/atm.2018.09.18. Review.

PMID:
 
30306077
 
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16.
Krabbe Disease.
Orsini JJ, Escolar ML, Wasserstein MP, Caggana M.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2000 Jun 19 [updated 2018 Oct 11].

PMID:
 
20301416
 
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17.
New primary immunodeficiency diseases: context and future.
Yu JE, Orange JS, Demirdag YY.
Curr Opin Pediatr. 2018 Dec;30(6):806-820. doi: 10.1097/MOP.0000000000000699.

PMID:
 
30300326
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18.
Gene ontology enrichment analysis of congenital diaphragmatic hernia-associated genes.
Dalmer TRA, Clugston RD.
Pediatr Res. 2018 Sep 25. doi: 10.1038/s41390-018-0192-8. [Epub ahead of print] Review.

PMID:
 
30287891
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19.
Mucopolysaccharidosis Type II.
Scarpa M.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Nov 6 [updated 2018 Oct 4].

PMID:
 
20301451
 
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20.
The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration.
Huffnagel IC, Laheji FK, Aziz-Bose R, Tritos NA, Marino R, Linthorst GE, Kemp S, Engelen M, Eichler F.
J Clin Endocrinol Metab. 2019 Jan 1;104(1):118-126. doi: 10.1210/jc.2018-01307.

PMID:
 
30252065
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