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Malformation syndromes: a review of mouse/human homology.

Data up to Jan 2025

Published1988
Citations46
References34

Total Citations Per Year

Abstract

References (34)

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1982 • 97 citations

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1973 • 97 citations

Genetic basis for a mouse model of down syndrome

1986 • 93 citations

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1985 • 90 citations

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1975 • 69 citations

A five‐generation family with sacral agenesis and spina bifida: Possible similarities with the mouse T‐locus

1982 • 66 citations

A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C

1986 • 66 citations

Homologous genes for X-linked chondrodysplasia punctata in man and mouse

1983 • 63 citations

X-Linked Colobomatous Microphthalmos and other Congenital Anomalies

1971 • 55 citations

Tetra-amelia with multiple malformations in six male fetuses of one kindred

1985 • 55 citations

Dactylaplasia in mice

1981 • 50 citations

Animal model: Skeletal anomalies in mice with cleidocranial dysplasia

1987 • 43 citations

The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency

1981 • 38 citations

Fragilitas ossium: a new autosomal recessive mutation in the mouse

1981 • 38 citations

The Genetics of the Skeleton

1989 • 36 citations

Restrictive dermopathy and report of another case

1986 • 35 citations

A new syndrome of severe upper limb hypoplasia and Müllerian duct anomalies

1986 • 33 citations

Hemifacial deficiency induced by a shift in dominance of the mouse mutation far: a possible genetic model for hemifacial microsomia.

1987 • 32 citations

A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?

1983 • 32 citations

A new syndrome in two unrelated females: Klippel-Feil deformity, conductive deafness and absent vagina.

1971 • 27 citations

Polydactyly Nagoya, <I>Pdn</I>: A New Mutant Gene in the Mouse

1980 • 26 citations

An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei

1985 • 23 citations

Lchthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing*

1984 • 21 citations

Congenital familial hypoplastic thumb associated with congenital amputation of the toe

1984 • 12 citations

Congenital craniofacial malformations: Issues and perspectives

1984 • 9 citations

A combinatorial method for grouping cases with multiple malformations.

1988 • 9 citations

Mouse Mutants: Model Systems to Study Congenital Cataract

1986 • 7 citations

The mouse skeletal mutants: models for the human skeletal dysplasias.

1985 • 6 citations

[The oligodactylia syndrome in human and its parallel mutation in the house mouse; an abnormality complex with ulnar aplasia, reduction of the ulnar marginal rays and anomalies of the intermaxillary bone, sternum, kidneys and spleen].

1957 • 3 citations

Brachypodism in the mouse.

1977 • 2 citations

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Malformation syndromes: a review of mouse/human homology. (1988) – Journal of Medical Genetics | Metascience Observatory Explorer