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 links to genetics reviews articles for "Newborn screening" 

Best matches for Newborn screening AND (genetic OR genomic) AND review:

Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.Almannai M et al. Curr Opin Pediatr. (2016)

Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries.Regier DS et al. Mol Genet Genomic Med. (2017)

Newborn screening for sickle cell diseases in the United States: A review of data spanning 2 decades.Therrell BL Jr et al. Semin Perinatol. (2015)

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Select item 305669041.

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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Select item 203013042.

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; 1993-2018.
2008 Feb 22 [updated 2018 Dec 20].

PMID:

 

20301304

 

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Select item 305357723.

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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Select item 305278924.

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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Select item 305043485.

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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Select item 305109446.

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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Select item 304998267.

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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Select item 203013988.

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; 1993-2018.
2006 Dec 19 [updated 2018 Nov 29].

PMID:

 

20301398

 

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Select item 304196059.

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. 2018 Nov 12. doi: 10.1111/resp.13437. [Epub ahead of print] Review.

PMID:

 

30419605

 

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Select item 3041481510.

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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Select item 3039337611.

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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Select item 3037783712.

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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Select item 3032479213.

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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Select item 3030607714.

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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Select item 2030141615.

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; 1993-2018.
2000 Jun 19 [updated 2018 Oct 11].

PMID:

 

20301416

 

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Select item 3030032616.

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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Select item 3028789117.

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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Select item 2030145118.

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; 1993-2018.
2007 Nov 6 [updated 2018 Oct 4].

PMID:

 

20301451

 

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Select item 3025206519.

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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Select item 3024290220.

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Parini R, Broomfield A, Cleary MA, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Scarpa M, Tylki-Szymańska A, Zeman J.

Acta Paediatr. 2018 Dec;107(12):2059-2065. doi: 10.1111/apa.14587. Epub 2018 Oct 23. Review.

PMID:

 

30242902

 

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