Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35.

Literature DB >> 1642242

Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35.

K D Mathews¹, K A Mills, E P Bosch, V V Ionasescu, K R Wiles, K H Buetow, J C Murray.

Abstract

Fasioscapulohumeral muscular dystrophy (FSHD) has recently been localized to 4q35. We have studied four families with FSHD. Linkage to the 4q35 probes D4S163, D4S139, and D4S171 was confirmed. We found no recombinants helpful in detailed localization of the FSHD gene. Two of our families include males with a rapidly progressive muscle disease that had been diagnosed, on the basis of clinical features, as Duchenne muscular dystrophy. One of these males is available for linkage study and shares the haplotype of his FSHD-affected aunt and cousin.

Entities: Disease Gene

Mesh：

Year: 1992 PMID： 1642242 PMCID： PMC1682681

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

17 in total

1. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization.

Authors: C Wijmenga; G W Padberg; P Moerer; J Wiegant; L Liem; O F Brouwer; E C Milner; J L Weber; G B van Ommen; L A Sandkuyl
Journal: Genomics Date: 1991-04 Impact factor: 5.736

2. Atypical facio-scapulo-humeral muscular dystrophy--a counselling dilemma.

Authors: W Reardon; I K Temple; G Harwood; M Baraitser
Journal: Clin Genet Date: 1991-03 Impact factor: 4.438

3. Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD).

Authors: K A Mills; K H Buetow; Y Xu; T M Ritty; K D Mathews; S E Bodrug; C Wijmenga; I Balazs; J C Murray
Journal: Am J Hum Genet Date: 1992-08 Impact factor: 11.025

4. A highly polymorphic VNTR locus on the long arm of chromosome 4.

Authors: M R Altherr; J J Wasmuth; Y Nakamura; R White
Journal: Nucleic Acids Res Date: 1991-03-11 Impact factor: 16.971

5. DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease.

Authors: M Upadhyaya; P W Lunt; M Sarfarazi; W Broadhead; J Daniels; M Owen; P S Harper
Journal: Lancet Date: 1990-11-24 Impact factor: 79.321

6. Isolation and characterization of a hypervariable region [D4S163] on chromosome 4.

Authors: J Neuweiler; V Ruvolo; H Baum; K H Grzeschik; I Balazs
Journal: Nucleic Acids Res Date: 1990-02-11 Impact factor: 16.971

7. Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias.

Authors: P W Lunt; D A Compston; P S Harper
Journal: J Med Genet Date: 1989-12 Impact factor: 6.318

8. A genetic linkage study of facioscapulohumeral (Landouzy-Déjérine) disease with 24 polymorphic DNA probes.

Authors: M Upadhyaya; M Sarfarazi; P W Lunt; W Broadhead; P S Harper
Journal: J Med Genet Date: 1989-08 Impact factor: 6.318

9. Efficient computations in multilocus linkage analysis.

Authors: G M Lathrop; J M Lalouel
Journal: Am J Hum Genet Date: 1988-03 Impact factor: 11.025

10. Genetic counselling in facioscapulohumeral muscular dystrophy.

Authors: P W Lunt; P S Harper
Journal: J Med Genet Date: 1991-10 Impact factor: 6.318

10 in total

1. Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD).

Authors: K A Mills; K H Buetow; Y Xu; T M Ritty; K D Mathews; S E Bodrug; C Wijmenga; I Balazs; J C Murray
Journal: Am J Hum Genet Date: 1992-08 Impact factor: 11.025

2. Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Authors: R Tupler; L Barbierato; M Memmi; C A Sewry; D De Grandis; P Maraschio; L Tiepolo; A Ferlini
Journal: J Med Genet Date: 1998-09 Impact factor: 6.318

3. A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD).

Authors: S T Winokur; B Schutte; B Weiffenbach; S S Washington; D McElligott; A Chakravarti; J H Wasmuth; M R Altherr
Journal: Am J Hum Genet Date: 1993-10 Impact factor: 11.025

4. The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.

Authors: S T Winokur; U Bengtsson; J Feddersen; K D Mathews; B Weiffenbach; H Bailey; R P Markovich; J C Murray; J J Wasmuth; M R Altherr
Journal: Chromosome Res Date: 1994-05 Impact factor: 5.239

Review 5. Genotype-phenotype correlations in FSHD.

Authors: Nikolay Zernov; Mikhail Skoblov
Journal: BMC Med Genomics Date: 2019-03-13 Impact factor: 3.063

6. Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle.

Authors: Dalila Laoudj-Chenivesse; Gilles Carnac; Catherine Bisbal; Gerald Hugon; Sandrine Bouillot; Claude Desnuelle; Yegor Vassetzky; Anne Fernandez
Journal: J Mol Med (Berl) Date: 2004-11-17 Impact factor: 4.599

10. Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD).

Authors: S Cacurri; G Deidda; N Piazzo; A Novelletto; I La Cesa; S Servidei; G Galluzzi; C Wijmenga; R R Frants; L Felicetti
Journal: Hum Genet Date: 1994-10 Impact factor: 4.132