The genetic contribution to the phenotype (Q40596042)

21 September 2017

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title

The genetic contribution to the phenotype (English)

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21 September 2017

U Wolf

1

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21 September 2017

publication date

1 February 1995

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21 September 2017

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21 September 2017

volume

95

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21 September 2017

issue

2

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21 September 2017

page(s)

127-148

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https://scigraph.springernature.com/pub.10.1007/bf00209392

21 September 2017

exact match

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cites work

Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome.

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12 December 2020

Hereditary motor and sensory neuropathies

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12 December 2020

Mutation and cancer: statistical study of retinoblastoma

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12 December 2020

Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis

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12 December 2020

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

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12 December 2020

X chromosome inactivation: the feminine mystique continues

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12 December 2020

Mitochondrial genetics: a paradigm for aging and degenerative diseases?

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12 December 2020

Phenylketonuria--genotypes and phenotypes

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12 December 2020

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

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12 December 2020

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease

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12 December 2020

A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development

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12 December 2020

Thinking in one dimension: the impact of molecular biology on development

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12 December 2020

Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice

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12 December 2020

Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study

1 reference

12 December 2020

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1 reference

12 December 2020

Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

1 reference

12 December 2020

Ancient genomes, wise bodies, unhealthy people: limits of a genetic paradigm in biology and medicine

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12 December 2020

Making stripes in the Drosophila embryo

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12 December 2020

Development of the mammalian gonad: The fate of the supporting cell lineage

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12 December 2020

Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage

1 reference

12 December 2020

Imprinting the genome: imprinted genes, imprinting genes, and a hypothesis for their interaction

1 reference

12 December 2020

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

12 December 2020

Down syndrome—a disruption of homeostasis

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12 December 2020

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

1 reference

12 December 2020

Mitochondrial diseases: genotype versus phenotype

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12 December 2020

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

1 reference

12 December 2020

Mammalian sex determination: thumbs down for zinc finger?

1 reference

12 December 2020

Structurally abnormal transthyretin causing familial amyloidotic polyneuropathy in Sweden

1 reference

12 December 2020

Evidence that random and imprinted Xist expression is controlled by preemptive methylation.

1 reference

12 December 2020

Heredity in dementia of the Alzheimer type.

1 reference

12 December 2020

Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome

1 reference

12 December 2020

Genomic imprinting: control of gene expression by epigenetic inheritance

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12 December 2020

Update of sporadic microphthalmos and coloboma. Non-inherited anomalies

1 reference

12 December 2020

Wither polygenic inheritance: mapping Hirschsprung disease

1 reference

12 December 2020

Androgen receptor gene mutation in male breast cancer

1 reference

12 December 2020

The spectrum of cystic fibrosis mutations

1 reference

12 December 2020

Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.

1 reference

12 December 2020

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

12 December 2020

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

12 December 2020

Diagnosis of familial amyloidotic polyneuropathy in Sweden by RFLP analysis

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12 December 2020

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

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12 December 2020

Strength and weakness of the genetic approach to the development of the nervous system

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12 December 2020

Epigenetic inheritance in mammals

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12 December 2020

Homeotic transformations of murine vertebrae and concomitant alteration of Hox codes induced by retinoic acid

1 reference

12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

Brittle bones--fragile molecules: disorders of collagen gene structure and expression

1 reference

12 December 2020

Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field

1 reference

12 December 2020

Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity

1 reference

12 December 2020

Trisomy 8: an international study of 70 patients

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12 December 2020

One gene—four syndromes

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12 December 2020

Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism

1 reference

12 December 2020

Hox genes in vertebrate development

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12 December 2020

Localization of the X inactivation centre on the human X chromosome in Xq13.

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12 December 2020

Phenotypic heterogeneity and the single gene

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12 December 2020

Molecular genetics of inherited retinal degenerations

1 reference

12 December 2020

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

1 reference

12 December 2020

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1 reference

12 December 2020

Molecular basis of human hypertension: role of angiotensinogen

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12 December 2020

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

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12 December 2020

Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

1 reference

12 December 2020

Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type)

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12 December 2020

An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma

1 reference

12 December 2020

Metaphors and the role of genes in development.

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12 December 2020

Imprinting: a gamete's point of view

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12 December 2020

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

1 reference

12 December 2020

Molecular biology of the human Y chromosome

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12 December 2020

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

1 reference

12 December 2020

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

1 reference

12 December 2020

Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy

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12 December 2020

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

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12 December 2020

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

1 reference

12 December 2020

Wilms' tumour gene and function

1 reference

12 December 2020

The egg came first, of course! Anterior-posterior pattern formation in Drosophila embryogenesis and oogenesis

1 reference

12 December 2020

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease

1 reference

12 December 2020

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1 reference

12 December 2020

A molecular variant of angiotensinogen associated with preeclampsia

1 reference

12 December 2020

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

1 reference

12 December 2020

Expression patterns of mouse hox genes: Clues to an understanding of developmental and evolutionary strategies

1 reference

12 December 2020

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

1 reference

12 December 2020

A familial mutation in the testis-determining gene SRY shared by both sexes

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12 December 2020

Classification of microphthalmos and coloboma

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12 December 2020

Cases are not incidence and vice versa

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12 December 2020

Mutations of the RET proto-oncogene in Hirschsprung's disease

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12 December 2020

Protein folding in the cell

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12 December 2020

Inherited WT1 mutation in Denys-Drash syndrome

1 reference

12 December 2020

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy

1 reference

12 December 2020

True hermaphroditism and "XX boy" in a sibship

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12 December 2020

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

1 reference

12 December 2020

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

1 reference

12 December 2020

Phenylketonuria with normal intelligence.

1 reference

12 December 2020

Presence of an abnormal transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy

1 reference

12 December 2020

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis

1 reference

12 December 2020

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

1 reference

12 December 2020

The Holt-Oram syndrome

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12 December 2020

Molecular genetics of neurological diseases

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12 December 2020

The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy

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12 December 2020

Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy

1 reference

12 December 2020

Familial XX true hermaphroditism and the H-Y antigen

1 reference

12 December 2020

N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome

1 reference

12 December 2020

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

1 reference

12 December 2020

Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations

1 reference

12 December 2020

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

12 December 2020

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

1 reference

12 December 2020

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23

1 reference

12 December 2020

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

1 reference

12 December 2020

Identical twins who are discordant for Leber's hereditary optic neuropathy.

1 reference

12 December 2020

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

1 reference

12 December 2020

A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.

1 reference

12 December 2020

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes

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12 December 2020

Assignment of the prealbumin (PALB) gene (familial amyloidotic polyneuropathy) to human chromosome region 18q11.2-q12.1.

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12 December 2020

Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region

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12 December 2020

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

1 reference

12 December 2020

Connexin mutations in X-linked Charcot-Marie-Tooth disease

1 reference

12 December 2020

Retinitis pigmentosa. The Friedenwald Lecture

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene.

1 reference

12 December 2020

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

1 reference

12 December 2020

Multiple endocrine neoplasia type II B with symptoms suggesting Hirschsprung's disease: a case report

1 reference

12 December 2020

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

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12 December 2020

A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome

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12 December 2020

Human ret proto-oncogene mapped to chromosome 10q11.2.

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12 December 2020

Mouse models of human single gene disorders. I: Nontransgenic mice.

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12 December 2020

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

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12 December 2020

Control of sex determination in animals.

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12 December 2020

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

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12 December 2020

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease

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12 December 2020

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

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12 December 2020

Diabetes in identical twins

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12 December 2020

Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14

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12 December 2020

The molecular basis of muscular dystrophy in the mdx mouse: a point mutation

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12 December 2020

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

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12 December 2020

The prevalence of dementia: a quantitative integration of the literature

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12 December 2020

Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree

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12 December 2020

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

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12 December 2020

Reproductive lifespan in irradiated and unirradiated chromosomally XO mice

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12 December 2020

The molecular genetics of embryonic pattern formation in Drosophila

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12 December 2020

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

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12 December 2020

Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes

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12 December 2020

Multilocus polycystic disease

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12 December 2020

Mutations in type I procollagen genes that cause osteogenesis imperfecta

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12 December 2020

How many genes in the human genome?

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12 December 2020

Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy

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12 December 2020

Identifiers

DOI

10.1007/BF00209392

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Dimensions Publication ID

21 September 2017

1033587941

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