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15 in total

1. Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy.

Authors: K L Chen; Y L Wang; H Rennert; I Joshi; J K Mills; D G Leonard; R B Wilson
Journal: Am J Med Genet Date: 1999-08-27

2. SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion.

Authors: H Scheffer; J M Cobben; R G Mensink; R P Stulp; G van der Steege; C H Buys
Journal: Eur J Hum Genet Date: 2000-02 Impact factor: 4.246

3. Genetic risk assessment in carrier testing for spinal muscular atrophy.

Authors: Shuji Ogino; Debra G B Leonard; Hanna Rennert; Warren J Ewens; Robert B Wilson
Journal: Am J Med Genet Date: 2002-07-15

4. Spinal muscular atrophy genetic testing experience at an academic medical center.

Authors: Shuji Ogino; Debra G B Leonard; Hanna Rennert; Robert B Wilson
Journal: J Mol Diagn Date: 2002-02 Impact factor: 5.568

5. Heteroduplex formation in SMN gene dosage analysis.

Authors: S Ogino; D G Leonard; H Rennert; S Gao; R B Wilson
Journal: J Mol Diagn Date: 2001-11 Impact factor: 5.568

6. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

Authors: U R Monani; C L Lorson; D W Parsons; T W Prior; E J Androphy; A H Burghes; J D McPherson
Journal: Hum Mol Genet Date: 1999-07 Impact factor: 6.150

7. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.

Authors: Markus Feldkötter; Verena Schwarzer; Radu Wirth; Thomas F Wienker; Brunhilde Wirth
Journal: Am J Hum Genet Date: 2001-12-21 Impact factor: 11.025

8. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.

Authors: B Gérard; N Ginet; G Matthijs; P Evrard; C Baumann; F Da Silva; M Gérard-Blanluet; M Mayer; B Grandchamp; J Elion
Journal: Hum Mutat Date: 2000-09 Impact factor: 4.878

9. Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients.

Authors: Y J Jong; J G Chang; S P Lin; T Y Yang; J C Wang; C P Chang; C C Lee; H Li; H M Hsieh-Li; C H Tsai
Journal: J Neurol Sci Date: 2000-02-15 Impact factor: 3.181

10. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications.

Authors: K Zerres; S Rudnik-Schöneborn
Journal: Arch Neurol Date: 1995-05

3 in total

1. Carrier incidence for spinal muscular atrophy in southern Chinese.

Authors: Vivian Chan; Ben Yip; Irene Yam; Patrick Au; Che-Kit Lin; Virginia Wong; Tai-Kwong Chan
Journal: J Neurol Date: 2004-09 Impact factor: 4.849

2. Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.

Authors: Philippe Burlet; Nadine Gigarel; Maryse Magen; Séverine Drunat; Alexandra Benachi; Laetitia Hesters; Arnold Munnich; Jean-Paul Bonnefont; Julie Steffann
Journal: Eur J Hum Genet Date: 2009-11-11 Impact factor: 4.246

3. Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots.

Authors: Yogik Onky Silvana Wijaya; Jamiyan Purevsuren; Nur Imma Fatimah Harahap; Emma Tabe Eko Niba; Yoshihiro Bouike; Dian Kesumapramudya Nurputra; Mawaddah Ar Rochmah; Cempaka Thursina; Sunartini Hapsara; Seiji Yamaguchi; Hisahide Nishio; Masakazu Shinohara
Journal: Int J Neonatal Screen Date: 2020-05-29

3 in total