Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome ; volume:15 ; number:1 ; day:2 ; month:5 ; year:2014 ; pages:1-6 ; date:12.2014
BMC medical genetics ; 15, Heft 1 (2.5.2014), 1-6, 12.2014

Creator: Bárcena, Clea

Contributor: Quesada, Víctor
De Sandre-Giovannoli, Annachiara
Puente, Diana A.
Fernández-Toral, Joaquín
Sigaudy, Sabine
Baban, Anwar
Levy, Nicolas
Velasco, Gloria
López-Otín, Carlos
SpringerLink (Online service)

DOI: 10.1186/1471-2350-15-51

URN: urn:nbn:de:1111-2016081217964

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:50 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Bárcena, Clea
Quesada, Víctor
De Sandre-Giovannoli, Annachiara
Puente, Diana A.
Fernández-Toral, Joaquín
Sigaudy, Sabine
Baban, Anwar
Levy, Nicolas
Velasco, Gloria
López-Otín, Carlos
SpringerLink (Online service)

Other Objects (12)

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia

Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family

Whole exome sequencing analysis identifies genes for alcohol consumption

Mutation discovery in mice by whole exome sequencing

Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex

Exome sequencing identifies a missense mutation in Isl1associated with low penetrance otitis media in dearisch mice

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia

Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family

Whole exome sequencing analysis identifies genes for alcohol consumption

Mutation discovery in mice by whole exome sequencing

Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex

Exome sequencing identifies a missense mutation in Isl1associated with low penetrance otitis media in dearisch mice

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia

Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family

Whole exome sequencing analysis identifies genes for alcohol consumption

Mutation discovery in mice by whole exome sequencing

Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex

Exome sequencing identifies a missense mutation in Isl1associated with low penetrance otitis media in dearisch mice

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia

Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family

Whole exome sequencing analysis identifies genes for alcohol consumption

Mutation discovery in mice by whole exome sequencing

Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex

Exome sequencing identifies a missense mutation in Isl1associated with low penetrance otitis media in dearisch mice

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia

Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family

Whole exome sequencing analysis identifies genes for alcohol consumption

Mutation discovery in mice by whole exome sequencing

Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex

Exome sequencing identifies a missense mutation in Isl1associated with low penetrance otitis media in dearisch mice

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia

Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family

Whole exome sequencing analysis identifies genes for alcohol consumption

Mutation discovery in mice by whole exome sequencing

Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex

Exome sequencing identifies a missense mutation in Isl1associated with low penetrance otitis media in dearisch mice

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

Related objects

Reset password