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Items: 1 to 20 of 114

1.

Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: unusual genetic mutation leading to unusual manifestation?

Maiti D, Bhattacharya M, Yadav S.

J Postgrad Med. 2012 Oct-Dec;58(4):294-5. doi: 10.4103/0022-3859.105451.

2.

Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy.

Liang YH, Chen XL, Yu ZS, Chen CY, Bi S, Mao LG, Zhou BL, Zhang XN.

J Zhejiang Univ Sci B. 2009 Jan;10(1):29-34. doi: 10.1631/jzus.B0820125.

3.

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.

Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B.

Hum Mol Genet. 1995 Oct;4(10):1927-33.

PMID:
8595417
4.

Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients.

Dastur RS, Gaitonde PS, Khadilkar SV, Udani VP, Nadkarni JJ.

Neurol India. 2006 Sep;54(3):255-9.

5.

Molecular analysis of the SMN and NAIP genes in Iranian spinal muscular atrophy patients.

Omrani O, Bonyadi M, Barzgar M.

Pediatr Int. 2009 Apr;51(2):193-6. doi: 10.1111/j.1442-200X.2008.02665.x.

PMID:
19405914
6.

Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients.

Watihayati MS, Zabidi-Hussin AM, Tang TH, Matsuo M, Nishio H, Zilfalil BA.

Pediatr Int. 2007 Feb;49(1):11-4. Erratum in: Pediatr Int. 2007 Apr;49(2):303. Zilfalil, Bin Alwi [added].

PMID:
17250498
7.

[Analysis and carrier screening for copy numbers of SMN and NAIP genes in children with spinal muscular atrophy].

Zeng G, Zheng H, Cheng J, Chen R, Lin H, Yang J, Zhang D.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Apr;31(2):152-5. doi: 10.3760/cma.j.issn.1003-9406.2014.02.006. Chinese.

PMID:
24711022
8.

Molecular analysis of the SMN1 and NAIP genes in Iranian patients with spinal muscular atrophy.

Derakhshandeh-Peykar P, Esmaili M, Ousati-Ashtiani Z, Rahmani M, Babrzadeh F, Farshidi S, Attaran E, Sajedifar MM, Farhud DD.

Ann Acad Med Singapore. 2007 Nov;36(11):937-41.

9.

Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs).

Essawi ML, Al-Attribi GM, Gaber KR, El-Harouni AA.

Gene. 2012 Nov 1;509(1):120-3. doi: 10.1016/j.gene.2012.07.085. Epub 2012 Aug 17.

PMID:
22921322
10.

Lower incidence of deletions in the survival of motor neuron gene and the neuronal apoptosis inhibitory protein gene in children with spinal muscular atrophy from Serbia.

Miskovic M, Lalic T, Radivojevic D, Cirkovic S, Vlahovic G, Zamurovic D, Guc-Scekic M.

Tohoku J Exp Med. 2011;225(3):153-9.

11.

Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.

Watihayati MS, Fatemeh H, Marini M, Atif AB, Zahiruddin WM, Sasongko TH, Tang TH, Zabidi-Hussin ZA, Nishio H, Zilfalil BA.

Brain Dev. 2009 Jan;31(1):42-5. doi: 10.1016/j.braindev.2008.08.012. Epub 2008 Oct 7.

PMID:
18842367
12.

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.

Amara A, Adala L, Ben Charfeddine I, Mamaï O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M.

Eur J Paediatr Neurol. 2012 Mar;16(2):167-74. doi: 10.1016/j.ejpn.2011.07.007. Epub 2011 Aug 6.

PMID:
21821450
13.

[Survival motor neuron gene and neuronal apoptosis inhibitory protein gene deletion in patients with spinal muscular atrophy].

Ma S, Yuan L, Liu T, Yang T, Zhou W, Wu H.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2000 Dec;22(6):551-4. Chinese.

PMID:
12903402
14.

Deletions in the SMN and NAIP genes in patients with spinal muscular atrophy in Croatia.

Sertić J, Barisić N, Sostarko M, Bosnjak N, Culić V, Cvitanović L, Ferencak G, Brzović Z, Stavljenić-Rukavina A.

Coll Antropol. 1997 Dec;21(2):487-92.

PMID:
9439064
15.

Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.

Zarkov M, Stojadinović A, Sekulić S, Barjaktarović I, Perić S, Keković G, Drasković B, Stević Z.

Vojnosanit Pregl. 2015 Oct;72(10):859-63.

PMID:
26665550
16.

Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes.

Haider MZ, Moosa A, Dalal H, Habib Y, Reynold L.

J Biomed Sci. 2001 Mar-Apr;8(2):191-6.

PMID:
11287750
17.

[A study of survival motor neuron and neuronal apoptosis inhibitory protein gene in spinal muscular atrophy].

Zhang L, Yang X, Xiao B.

Zhonghua Nei Ke Za Zhi. 2001 Jun;40(6):401-4. Chinese.

PMID:
11798607
18.

Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy.

Essawi ML, Effat LK, Shanab GM, Al-Ettribi GM, El-Haronui AA, Karim AM.

Bratisl Lek Listy. 2007;108(3):133-7.

PMID:
17682539
19.

Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.

Al-Jumah M, Majumdar R, Al-Rajeh S, Awada A, Chaves-Carbello E, Salih M, Al-Shahwan S, Al-Subiey K, Al-Uthaim S.

Saudi Med J. 2003 Oct;24(10):1052-4.

PMID:
14578966
20.

Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene.

Gambardella A, Mazzei R, Toscano A, Annesi G, Pasqua A, Annesi F, Quattrone F, Oliveri RL, Valentino P, Bono F, Aguglia U, Zappia M, Vita G, Quattrone A.

Ann Neurol. 1998 Nov;44(5):836-9.

PMID:
9818944
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