Exclusive paternal origin of new mutations in Apert syndrome (Q34385938)

1 August 2017

title

Exclusive paternal origin of new mutations in Apert syndrome (English)

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Andrew Oliver Mungo Wilkie

1 August 2017

author

7

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1 August 2017

Moloney DM

1

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1 August 2017

Slaney SF

2

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1 August 2017

Oldridge M

3

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1 August 2017

Wall SA

4

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1 August 2017

Sahlin P

5

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1 August 2017

Stenman G

6

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1 August 2017

publication date

1 May 1996

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1 August 2017

language of work or name

0 references

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1 August 2017

volume

13

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1 August 2017

issue

1

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1 August 2017

page(s)

48-53

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Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD)

1 August 2017

cites work

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Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases

21 January 2018

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Birth prevalence study of the Apert syndrome

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A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome

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Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

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Recent human germ-line mutation: inferences from patients with hemophilia B.

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7 January 2021

De novo mutations producing unstable Hbs or Hbs M. II. Direct estimates of minimum nucleotide mutation rates in man.

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7 January 2021

The rate with which spontaneous mutation alters the electrophoretic mobility of polypeptides

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7 January 2021

Functions of fibroblast growth factors and their receptors

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7 January 2021

Fibroblast-growth-factor receptor mutations in human skeletal disorders

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A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

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7 January 2021

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

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7 January 2021

Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B

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7 January 2021

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

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7 January 2021

Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies

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7 January 2021

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

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7 January 2021

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

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7 January 2021

Parental age and mutation

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7 January 2021

Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta

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7 January 2021

Achondroplasia: unexpected familial recurrence

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7 January 2021

Genetic counselling in unexpected familial recurrence of achondroplasia

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7 January 2021

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

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7 January 2021

On the parental origin of de novo mutation in man.

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Mutations in steroid 21-hydroxylase (CYP21)

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7 January 2021

Mutation rates differ among regions of the mammalian genome

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7 January 2021

Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

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7 January 2021

Genomic position influences spontaneous mutagenesis of an integrated retroviral vector containing the hprt cDNA as target for mutagenesis

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7 January 2021

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene

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7 January 2021

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

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7 January 2021

Parental origin of mutations of the retinoblastoma gene

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7 January 2021

Paternal origin of new mutations in von Recklinghausen neurofibromatosis

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7 January 2021

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

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7 January 2021

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

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7 January 2021

Germinal mosaicism in Apert syndrome

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7 January 2021

Osteogenesis imperfecta: translation of mutation to phenotype

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7 January 2021

The 1993-94 Généthon human genetic linkage map

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7 January 2021

The X-Y homologous gene amelogenin maps to the short arms of both the X and Y chromosomes and is highly conserved in primates

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7 January 2021

Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene

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7 January 2021

A simple and rapid method of direct sequencing using Dynabeads

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7 January 2021

Identifiers

DOI

10.1038/NG0596-48

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1 August 2017

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