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Items: 1 to 20 of 72207

1.

Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation.

Ma X, Lv X, Liu HY, Wu X, Wang L, Li H, Chou HY.

J Clin Lab Anal. 2018 Jul 13:e22593. doi: 10.1002/jcla.22593. [Epub ahead of print]

PMID:
30006944
2.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, M A Verhagen J, Verloes A, Munnich A, Baujat G, Cormier-Daire V.

Eur J Hum Genet. 2018 Jul 13. doi: 10.1038/s41431-018-0135-1. [Epub ahead of print]

PMID:
30006632
3.

Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.

Greenbaum L, Gilboa Y, Raas-Rothschild A, Barel O, Kol N, Wolf HR, Pode-Shakked B, Finezilber Y, Messing B, Berkenstadt M.

Eur J Med Genet. 2018 Jul 10. pii: S1769-7212(17)30668-7. doi: 10.1016/j.ejmg.2018.07.004. [Epub ahead of print]

PMID:
30006055
4.

Clonal neutrophil infiltrates in concurrent Sweet's syndrome and acute myeloid leukemia: A case report and literature review.

Mo W, Wang X, Wang Y, Li Y, Zhang R.

Cancer Genet. 2018 Oct;226-227:11-16. doi: 10.1016/j.cancergen.2018.04.120. Epub 2018 May 10.

PMID:
30005849
5.

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

Toldo I, Bonardi CM, Bettella E, Polli R, Talenti G, Burlina A, Sartori S, Murgia A.

Eur J Paediatr Neurol. 2018 Jul 3. pii: S1090-3798(18)30073-4. doi: 10.1016/j.ejpn.2018.06.010. [Epub ahead of print] Review.

PMID:
30005813
6.

Epidermal growth factor receptor inhibition with Gefitinib does not alter lung responses to mechanical ventilation in fetal, preterm lambs.

Kothe TB, Royse E, Kemp MW, Usuda H, Saito M, Musk GC, Jobe AH, Hillman NH.

PLoS One. 2018 Jul 13;13(7):e0200713. doi: 10.1371/journal.pone.0200713. eCollection 2018.

PMID:
30005089
7.

Timing of surgery in ulcerative colitis in the biologic therapy era-the patient's perspective.

Gröne J, Lorenz EM, Seifarth C, Seeliger H, Kreis ME, Mueller MH.

Int J Colorectal Dis. 2018 Jul 12. doi: 10.1007/s00384-018-3129-0. [Epub ahead of print]

PMID:
30003360
8.

About the role of polysomnography in weaning and titration of home oxygen therapy in children with bronchopulmonary dysplasia.

De Pieri C, Amaddeo A, Fauroux B.

J Matern Fetal Neonatal Med. 2018 Jul 12:1-11. doi: 10.1080/14767058.2018.1500548. [Epub ahead of print] No abstract available.

PMID:
30001649
9.

Effect of progesterone on Smad signaling and TGF-β/Smad-regulated genes in lung epithelial cells.

Kunzmann S, Ottensmeier B, Speer CP, Fehrholz M.

PLoS One. 2018 Jul 12;13(7):e0200661. doi: 10.1371/journal.pone.0200661. eCollection 2018.

PMID:
30001393
10.

Ki67, CD105, and α-SMA expression supports the transformation relevant dysplastic features in the atrophic epithelium of oral submucous fibrosis.

Gadbail AR, Chaudhary M, Sarode SC, Gondivkar S, Tekade SA, Zade P, Hande A, Sarode GS, Patil S.

PLoS One. 2018 Jul 12;13(7):e0200171. doi: 10.1371/journal.pone.0200171. eCollection 2018.

PMID:
30001387
11.

Chromoendoscopy versus standard colonoscopy for detection of nonpolypoid dysplasia in patients with inflammatory bowel disease.

Sekra A, Schauer C, Mills L, Vandal AC, Rose T, Lal D, Ogra R.

N Z Med J. 2018 Jul 13;131(1478):32-38.

PMID:
30001304
12.

Sustained lung inflation at birth via short binasal prong in very low birth weight preterm infants: A retrospective study.

Buyuktiryaki M, Kanmaz HG, Okur N, Bezirganoglu H, Bekmez B, Kadioglu Simsek G, Canpolat FE, Oguz SS, Tayman C.

Pediatr Pulmonol. 2018 Jul 12. doi: 10.1002/ppul.24130. [Epub ahead of print]

PMID:
29999603
13.

Neonatal and Long-Term Consequences of Fetal Growth Restriction.

Colella M, Frerot A, Novais ARB, Baud O.

Curr Pediatr Rev. 2018 Jul 11. doi: 10.2174/1573396314666180712114531. [Epub ahead of print]

PMID:
29998808
14.

Histology of Barrett's Metaplasia: Do Goblet Cells Matter?

Odze R.

Dig Dis Sci. 2018 Jul 11. doi: 10.1007/s10620-018-5151-z. [Epub ahead of print] Review.

PMID:
29998421
15.

Melorheostosis of a rib.

Semionov A, Jaffer R, Kosiuk J.

Radiol Case Rep. 2018 Jul 5;13(4):886-889. doi: 10.1016/j.radcr.2018.06.006. eCollection 2018 Aug.

PMID:
29997717
16.

Altered cell-cycle control, inflammation and adhesion in high-risk persistent bronchial dysplasia.

Merrick DT, Edwards MG, Franklin WA, Sugita M, Keith RL, Miller YE, Friedman MB, Dwyer-Nield LD, Tennis MA, O'Keefe MC, Donald EJ, Malloy JM, van Bokhoven A, Wilson S, Koch PJ, O'Shea C, Coldren C, Orlicky DJ, Lu X, Baron AE, Hickey G, Kennedy TC, Powell R, Heasley L, Bunn PA, Geraci M, Nemenoff RA.

Cancer Res. 2018 Jul 11. pii: canres.3822.2017. doi: 10.1158/0008-5472.CAN-17-3822. [Epub ahead of print]

PMID:
29997230
17.

Managing Secondary Genomic Findings Associated With Arrhythmogenic Right Ventricular Cardiomyopathy: Case Studies and Proposal for Clinical Surveillance.

Haggerty CM, Murray B, Tichnell C, Judge DP, Tandri H, Schwartz M, Sturm AC, Matsumura ME, Murray MF, Calkins H, Fornwalt BK, James CA.

Circ Genom Precis Med. 2018 Jul;11(7):e002237. doi: 10.1161/CIRCGEN.118.002237. No abstract available.

PMID:
29997227
18.

Plasticity based on compensatory effector use in the association but not primary sensorimotor cortex of people born without hands.

Striem-Amit E, Vannuscorps G, Caramazza A.

Proc Natl Acad Sci U S A. 2018 Jul 11. pii: 201803926. doi: 10.1073/pnas.1803926115. [Epub ahead of print]

19.

Hypertensive Disorders during Pregnancy and Risk of Bronchopulmonary Dysplasia in Very Preterm Infants.

Rocha GM, de Lima FF, Machado AP, Guimarães HA; Hypertensive Disorders of Pregnancy Study Group.

Am J Perinatol. 2018 Jul 11. doi: 10.1055/s-0038-1660865. [Epub ahead of print]

PMID:
29996153
20.

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