Literature DB >> 8179645

Low segregation ratios in autosomal recessive disorders.

S Bundey, I D Young.   

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Year:  1993        PMID： 8179645      PMCID： PMC1016413          DOI： 10.1136/jmg.30.6.449

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

1.  Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

Authors:  O Mäkitie
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  The need for care in the use of linkage analysis for genetic diagnosis in small families, with particular reference to uniparental disomy.

Authors:  C G Woods; J H Edwards
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

3.  Family size limitation: a method for demonstrating recessive inheritance.

Authors:  J F Brookfield; R J Pollitt; I D Young
Journal:  J Med Genet       Date:  1988-03       Impact factor: 6.318

4.  Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.

Authors:  M Godfrey; D R Keene; E Blank; H Hori; L Y Sakai; L A Sherwin; D W Hollister
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

5.  Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.

Authors:  E M Thompson; I D Young; C M Hall; M E Pembrey
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

6.  A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.

Authors:  P J Rosenfeld; G S Cowley; T L McGee; M A Sandberg; E L Berson; T P Dryja
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

7.  A genetic study of subacute and chronic spinal muscular atrophy in childhood. A nosological analysis of 124 index patients.

Authors:  J Pearn; S Bundley; C O Carter; J Wilson; D Gardner-Medwin; J N Walton
Journal:  J Neurol Sci       Date:  1978-07       Impact factor: 3.181

8.  A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.

Authors:  E M Rinchik; S J Bultman; B Horsthemke; S T Lee; K M Strunk; R A Spritz; K M Avidano; M T Jong; R D Nicholls
Journal:  Nature       Date:  1993-01-07       Impact factor: 49.962

9.  The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.

Authors:  J M Gardner; Y Nakatsu; Y Gondo; S Lee; M F Lyon; R A King; M H Brilliant
Journal:  Science       Date:  1992-08-21       Impact factor: 47.728

10.  No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers.

Authors:  K Kausch; C R Müller; T Grimm; K Ricker; M Rietschel; S Rudnik-Schöneborn; K Zerres
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132
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  2 in total

Review 1.  Cartilage-hair hypoplasia.

Authors:  O Mäkitie; T Sulisalo; A de la Chapelle; I Kaitila
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

2.  Low segregation ratios in autosomal recessive disorders.

Authors:  J C Oosterwijk
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318
  2 in total

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