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Results: 1 to 20 of 115

1.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
19198020
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families.

Savas S, Eraslan S, Kantarci S, Karaman B, Acarsoz D, Tükel T, Cogulu O, Ozkinay F, Basaran S, Aydinli K, Yuksel-Apak M, Kirdar B.

Prenat Diagn. 2002 Aug;22(8):703-9.

PMID:
12210580
[PubMed - indexed for MEDLINE]
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.

PMID:
16936383
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
18071605
[PubMed - indexed for MEDLINE]
Free Article
6.

[Gene diagnosis for spinal muscular atrophy and its application study].

Cao DH, Ren MH, Lin CK, Cui WT, Ma HW, Wu YY, Jin CL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):306-9. doi: 10.3760/cma.j.issn.1003-9406.2009.03.015. Chinese.

PMID:
19504445
[PubMed - indexed for MEDLINE]
7.

Prenatal diagnosis of spinal muscular atrophy in Macedonian families.

Kocheva SA, Plaseska-Karanfilska D, Trivodalieva S, Kuturec M, Vlaski-Jekic S, Efremov GD.

Genet Test. 2008 Sep;12(3):391-3. doi: 10.1089/gte.2007.0112.

PMID:
18752447
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
23298926
[PubMed - indexed for MEDLINE]
Free Article
12.

SMN1 deletions among singaporean patients with spinal muscular atrophy.

Lai AH, Tan ES, Law HY, Yoon CS, Ng IS.

Ann Acad Med Singapore. 2005 Jan;34(1):73-7.

PMID:
15726222
[PubMed - indexed for MEDLINE]
Free Article
13.

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.

PMID:
21971302
[PubMed - indexed for MEDLINE]
Free Article
14.

Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.

Hasanzad M, Golkar Z, Kariminejad R, Hadavi V, Almadani N, Afroozan F, Salahshurifar I, Shafeghati Y, Kahrizi K, Najmabadi H.

Ann Acad Med Singapore. 2009 Feb;38(2):139-41.

PMID:
19271042
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.

Rekik I, Boukhris A, Ketata S, Amri M, Essid N, Feki I, Mhiri C.

Ann Indian Acad Neurol. 2013 Jan;16(1):57-61. doi: 10.4103/0972-2327.107704.

PMID:
23661964
[PubMed]
Free PMC Article
18.

Molecular prenatal diagnosis of autosomal recessive spinal muscular atrophies using quantification polymerase chain reaction.

Jiang W, Ji X, Xu Y, Qu X, Sun W, Yang Z, Tao J, Chen Y.

Genet Test Mol Biomarkers. 2013 May;17(5):438-42. doi: 10.1089/gtmb.2012.0481. Epub 2013 Feb 28.

PMID:
23448387
[PubMed - indexed for MEDLINE]
19.

[Quantitative analysis of the genes determining spinal muscular atrophy].

Nagymihály M, Herczegfalvi A, Tímár L, Karcagi V.

Ideggyogy Sz. 2009 Nov 30;62(11-12):390-7. Hungarian.

PMID:
20025129
[PubMed - indexed for MEDLINE]
20.

Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper.

Harahap NI, Harahap IS, Kaszynski RH, Nurputra DK, Hartomo TB, Pham HT, Yamamoto T, Morikawa S, Nishimura N, Rusdi I, Widiastuti R, Nishio H.

Genet Test Mol Biomarkers. 2012 Feb;16(2):123-9. doi: 10.1089/gtmb.2011.0109. Epub 2011 Sep 23.

PMID:
21942573
[PubMed - indexed for MEDLINE]
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