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Literature DB >> 18941424

Carrier screening for spinal muscular atrophy.

Thomas W Prior¹.

Abstract

Entities: Chemical

Mesh：

Year: 2008 PMID： 18941424 PMCID： PMC3110347 DOI： 10.1097/GIM.0b013e318188d069

Source DB: PubMed Journal: Genet Med ISSN： 1098-3600 Impact factor: 8.822

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6 in total

1. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

Authors: P E McAndrew; D W Parsons; L R Simard; C Rochette; P N Ray; J R Mendell; T W Prior; A H Burghes
Journal: Am J Hum Genet Date: 1997-06 Impact factor: 11.025

Review 2. Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Authors: Shuji Ogino; Robert B Wilson
Journal: Hum Genet Date: 2002-10-03 Impact factor: 4.132

3. Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases.

Authors: B Wirth; S Rudnik-Schöneborn; E Hahnen; D Röhrig; K Zerres
Journal: Prenat Diagn Date: 1995-05 Impact factor: 3.050

4. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.

Authors: J Pearn
Journal: J Med Genet Date: 1978-12 Impact factor: 6.318

5. Identification and characterization of a spinal muscular atrophy-determining gene.

Authors: S Lefebvre; L Bürglen; S Reboullet; O Clermont; P Burlet; L Viollet; B Benichou; C Cruaud; P Millasseau; M Zeviani
Journal: Cell Date: 1995-01-13 Impact factor: 41.582

6. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

Authors: Matthew D Mailman; John W Heinz; Audrey C Papp; Pamela J Snyder; Mary S Sedra; Brunhilde Wirth; Arthur H M Burghes; Thomas W Prior
Journal: Genet Med Date: 2002 Jan-Feb Impact factor: 8.822

6 in total

51 in total

1. Carrier screening in preconception consultation in primary care.

Authors: Sylvia A Metcalfe
Journal: J Community Genet Date: 2011-12-20

2. Expanded carrier screening panels-does bigger mean better?

Authors: Sara Wienke; Kimberly Brown; Meagan Farmer; Charlie Strange
Journal: J Community Genet Date: 2013-09-24

3. Carrier screening for spinal muscular atrophy with a simple test based on melting analysis.

Authors: Zhongmin Xia; Yulin Zhou; Dongmei Fu; Zengge Wang; Yunsheng Ge; Jun Ren; Qiwei Guo
Journal: J Hum Genet Date: 2019-02-15 Impact factor: 3.172

4. The changing landscape of carrier screening: expanding technology and options?.

Authors: Michelle L McGowan; Deborah Cho; Richard R Sharp
Journal: Health Matrix Clevel Date: 2013

5. A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.

Authors: Jessica X Chong; A Afşin Oktay; Zunyan Dai; Kathryn J Swoboda; Thomas W Prior; Carole Ober
Journal: Eur J Hum Genet Date: 2011-05-25 Impact factor: 4.246

6. "I have SMA, SMA doesn't have me": a qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA.

Authors: Allison Mazzella; Mary Curry; Lisa Belter; Rosángel Cruz; Jill Jarecki
Journal: Orphanet J Rare Dis Date: 2021-02-22 Impact factor: 4.123

7. SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.

Authors: Ahmet Cevdet Ceylan; Haktan Bağış Erdem; İbrahim Şahin; Meenal Agarwal
Journal: Neurol Sci Date: 2020-04-06 Impact factor: 3.307