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Items: 1 to 20 of 3315

1.

Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene.

Ahmed A, Alsaleem B.

Case Rep Pediatr. 2017;2017:5321860. doi: 10.1155/2017/5321860. Epub 2017 Mar 27.

2.

Novel mutation identified in severe early-onset tumor necrosis factor receptor-associated periodic syndrome: a case report.

Radhakrishna SM, Grimm A, Broderick L.

BMC Pediatr. 2017 Apr 20;17(1):108. doi: 10.1186/s12887-017-0856-2.

3.

FBXW7 missense mutation: a novel negative prognostic factor in metastatic colorectal adenocarcinoma.

Korphaisarn K, Karlyle Morris V, Overman MJ, Fogelman DR, Kee BK, Pratap Singh Raghav K, Manuel S, Shureiqi I, Wolff RA, Eng C, Menter D, Hamilton SR, Kopetz S, Dasari A.

Oncotarget. 2017 Apr 5. doi: 10.18632/oncotarget.16848. [Epub ahead of print]

4.

A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis.

Wang D, Liang S, Zhang Z, Zhao G, Hu Y, Liang S, Zhang X, Banerjee S.

Oncotarget. 2017 Mar 28;8(13):21327-21335. doi: 10.18632/oncotarget.15570.

5.

Novel impact of the DNMT3A R882H mutation on GSH metabolism in a K562 cell model established by TALENs.

Yang L, Liu Y, Zhang N, Ding X, Zhang W, Shen K, Huang L, Zhou J, Cui S, Zhu Z, Hu Z, Xiao M.

Oncotarget. 2017 Mar 22. doi: 10.18632/oncotarget.16449. [Epub ahead of print]

7.

High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.

Tripolszki K, Török D, Goudenège D, Farkas K, Sulák A, Török N, Engelhardt JI, Klivényi P, Procaccio V, Nagy N, Széll M.

Brain Behav. 2017 Mar 15;7(4):e00669. doi: 10.1002/brb3.669. eCollection 2017 Apr.

8.

Identification of a novel functional JAK1 S646P mutation in acute lymphoblastic leukemia.

Li Q, Li B, Hu L, Ning H, Jiang M, Wang D, Liu T, Zhang B, Chen H.

Oncotarget. 2017 Mar 29. doi: 10.18632/oncotarget.16670. [Epub ahead of print]

9.

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.

Khan AK, Muhammad N, Aziz A, Khan SA, Shah K, Nasir A, Khan MA, Khan S.

BMC Med Genet. 2017 Apr 12;18(1):42. doi: 10.1186/s12881-017-0402-y.

10.

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation.

Sag E, Cebi AH, Kaya G, Karaguzel G, Cakir M.

Pediatr Gastroenterol Hepatol Nutr. 2017 Mar;20(1):61-64. doi: 10.5223/pghn.2017.20.1.61. Epub 2017 Mar 27.

11.

Pseudomonas aeruginosa Liver Abscess as the First Manifestation of X-Linked Agammaglobulinemia With a Novel Mutation.

Muñoz-Miguelsanz MA, Álvarez Morales T, Martín García JA, Martínez Gallo M, Santos Pérez JL.

J Investig Allergol Clin Immunol. 2017;27(2):129-131. doi: 10.18176/jiaci.0129. No abstract available.

12.

Camptocormia and shuffling gait due to a novel <i>MT-TV</i> mutation: Diagnostic pitfalls.

Reimann J, Lehmann D, Hardy SA, Falkous G, Knowles CV, Jones RL, Kunz WS, Taylor RW, Kornblum C.

Neurol Genet. 2017 Apr 5;3(3):e147. doi: 10.1212/NXG.0000000000000147. eCollection 2017 Jun. No abstract available.

13.

Characterization of a novel <i>HESX1</i> mutation in a pediatric case of septo-optic dysplasia.

Pozzi S, Tan WH, Martinez-Barbera J.

Clin Case Rep. 2017 Mar 2;5(4):463-470. doi: 10.1002/ccr3.868. eCollection 2017 Apr.

14.

Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.

Muys J, Blaumeiser B, Jacquemyn Y, Janssens K.

Clin Case Rep. 2017 Mar 1;5(4):440-445. doi: 10.1002/ccr3.800. eCollection 2017 Apr.

15.

Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel <i>GNPTAB</i> mutation, and a concomitant heterozygous change in <i>SERPINF1</i> inherited from the mother.

Wood KA, Zambrano RM, Cheek BJ, Arcement C, Haymon M, Steinkampf J, Sampath S, Hyland JC, Lacassie Y.

Clin Case Rep. 2017 Feb 24;5(4):431-434. doi: 10.1002/ccr3.835. eCollection 2017 Apr.

16.

Generation of human iPSCs from urine derived cells of patient with a novel heterozygous PAI-1 mutation.

Afzal MZ, Gartz M, Klyachko EA, Khan SS, Shah SJ, Gupta S, Shapiro AD, Vaughan DE, Strande JL.

Stem Cell Res. 2017 Jan;18:41-44. doi: 10.1016/j.scr.2016.12.003. Epub 2016 Dec 9.

17.

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

Quick AP, Landstrom AP, Wang Q, Beavers DL, Reynolds JO, Barreto-Torres G, Tran V, Showell J, Philippen LE, Morris SA, Skapura D, Bos JM, Pedersen SE, Pautler RG, Ackerman MJ, Wehrens XH.

JACC Basic Transl Sci. 2017 Feb;2(1):56-67. doi: 10.1016/j.jacbts.2016.11.004.

18.

Identification of a Novel Mutation of <i>LAMB3</i> Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing.

Laroussi N, Messaoud O, Chargui M, Ben Fayala C, Elahlafi A, Mokni M, Bashamboo A, McElreavey K, Boubaker MS, Yacoub Youssef H, Abdelhak S.

Ann Dermatol. 2017 Apr;29(2):243-246. doi: 10.5021/ad.2017.29.2.243. Epub 2017 Mar 24. No abstract available.

19.

A novel missense mutation in the factor XII gene in a litter of cats with factor XII deficiency.

Maruyama H, Hosoe H, Nagamatsu K, Kano R, Kamata H.

J Vet Med Sci. 2017 Apr 7. doi: 10.1292/jvms.16-0602. [Epub ahead of print]

20.

A novel mutation in <i>KIF5A</i> in a Malian family with spastic paraplegia and sensory loss.

Guinto CO, Diarra S, Diallo S, Cissé L, Coulibaly T, Diallo SH, Taméga A, Chen KL, Schindler AB, Bagayoko K, Simaga A, Blackstone C, Fischbeck KH, Landouré G.

Ann Clin Transl Neurol. 2017 Mar 21;4(4):272-275. doi: 10.1002/acn3.402. eCollection 2017 Apr.

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