Literature DB >> 5079103

Dominant ectrodactyly and possible germinal mosaicism.

T J David.   

Abstract

Mesh：

Year:  1972        PMID： 5079103      PMCID： PMC1469121          DOI： 10.1136/jmg.9.3.316

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


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  15 in total

1.  A pedigree of aniridia with a discussion of germinal mosaicism in man.

Authors:  T E REED; H F FALLS
Journal:  Am J Hum Genet       Date:  1955-03       Impact factor: 11.025

2.  [Delayed mutation in man; a critical observation on the work of Ch. Auerbachs (1956)].

Authors:  F VOGEL
Journal:  Ann Hum Genet       Date:  1958-02       Impact factor: 1.670

3.  Genetic Analysis of Seven Newly Discovered Mutant Alleles at Locus T in the House Mouse.

Authors:  L C Dunn; S Gluecksohn-Waelsch
Journal:  Genetics       Date:  1953-05       Impact factor: 4.562

4.  Observations on the human group system Lewis.

Authors:  R GRUBB
Journal:  Acta Pathol Microbiol Scand       Date:  1951

5.  A new tail-short mutation in the mouse whose lethal effects are conditioned by the residual genotypes.

Authors:  W C MORGAN
Journal:  J Hered       Date:  1950-08       Impact factor: 2.645

6.  Cell selection in vivo in normal-G trisomic mosaics.

Authors:  A I Taylor
Journal:  Nature       Date:  1968-09-07       Impact factor: 49.962

7.  A recessive form of ectrodactyly, and its implications in genetic counseling.

Authors:  A Freire-Maia
Journal:  J Hered       Date:  1971 Jan-Feb       Impact factor: 2.645

8.  Familial total anomalous pulmonary venous return.

Authors:  J E Paz; E E Castilla
Journal:  J Med Genet       Date:  1971-09       Impact factor: 6.318

9.  Unilateral gonadal dysgenesis. Report of 2 cases.

Authors:  J Kosowicz; M Bialecki; M Wójtowicz; S Sobieszczyk
Journal:  Am J Obstet Gynecol       Date:  1969-12-01       Impact factor: 8.661

10.  Congenital split foot (lobster claw) and triphalangeal thumb.

Authors:  R S Phillips
Journal:  J Bone Joint Surg Br       Date:  1971-05
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  14 in total

1.  Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

Authors:  T Grimm; B Müller; C R Müller; M Janka
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

2.  Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism.

Authors:  K Wieland; D S Millar; C B Grundy; R S Mibashan; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

Review 3.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

4.  Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Authors:  P H Byers; P Tsipouras; J F Bonadio; B J Starman; R C Schwartz
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

5.  Anomalous inheritance in a kindred with split hand, split foot malformation.

Authors:  M Spranger; J Schapera
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

6.  Ectrodactyly in sisters and half sisters.

Authors:  M H Mufti; S K Wood
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

7.  Congenital limb anomalies:frequency and aetiological factors. Data from the Edinburgh Register of the Newborn (1964-68).

Authors:  E J Rogala; R Wynne-Davies; A Littlejohn; J Gormley
Journal:  J Med Genet       Date:  1974-09       Impact factor: 6.318

Review 8.  Cleft hand/foot: clinical and developmental aspects.

Authors:  P W Buss
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

9.  Split hand and food deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). A report of five patients.

Authors:  R Schmidt; H M Nitowsky
Journal:  Hum Genet       Date:  1977-11-02       Impact factor: 4.132

10.  Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Authors:  D M Milewicz; A M Witz; A C Smith; D K Manchester; G Waldstein; P H Byers
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025
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