Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2190-3883

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency ; volume:57 ; number:3 ; day:25 ; month:11 ; year:2015 ; pages:373-381 ; date:8.2016
Journal of applied genetics ; 57, Heft 3 (25.11.2015), 373-381, 8.2016

Creator: Ziemnicka, K.

Contributor: Budny, B.
Drobnik, K.
Baszko-Błaszyk, D.
Stajgis, M.
Katulska, K.
Waśko, R.
Wrotkowska, E.
Słomski, R.
Ruchała, M.
SpringerLink (Online service)

DOI: 10.1007/s13353-015-0328-z

URN: urn:nbn:de:1111-2016072855600

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:52 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

Ziemnicka, K.
Budny, B.
Drobnik, K.
Baszko-Błaszyk, D.
Stajgis, M.
Katulska, K.
Waśko, R.
Wrotkowska, E.
Słomski, R.
Ruchała, M.
SpringerLink (Online service)

Other Objects (12)

Cantú syndrome with coexisting familial pituitary adenoma

Coexisting Rathke Cleft Cyst and Pituitary Adenoma Presenting with Pituitary Apoplexy: Report of Two Cases

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

Symptomatic Rathke's cleft cyst with a co-existing pituitary tumor; Brief review of the literature

E2F1 activation is responsible for pituitary adenomas induced by HMGA2 gene overexpression

A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

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

FMCGP: frameshift mutation cartesian genetic programming

Aufsatzsammlung

Pituitary

Zeitschrift

Pituitary

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

Cantú syndrome with coexisting familial pituitary adenoma

Coexisting Rathke Cleft Cyst and Pituitary Adenoma Presenting with Pituitary Apoplexy: Report of Two Cases

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

Symptomatic Rathke's cleft cyst with a co-existing pituitary tumor; Brief review of the literature

E2F1 activation is responsible for pituitary adenomas induced by HMGA2 gene overexpression

A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

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

FMCGP: frameshift mutation cartesian genetic programming

Aufsatzsammlung

Pituitary

Zeitschrift

Pituitary

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

Cantú syndrome with coexisting familial pituitary adenoma

Coexisting Rathke Cleft Cyst and Pituitary Adenoma Presenting with Pituitary Apoplexy: Report of Two Cases

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

Symptomatic Rathke's cleft cyst with a co-existing pituitary tumor; Brief review of the literature

E2F1 activation is responsible for pituitary adenomas induced by HMGA2 gene overexpression

A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

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

FMCGP: frameshift mutation cartesian genetic programming

Aufsatzsammlung

Pituitary

Zeitschrift

Pituitary

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

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.

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Cantú syndrome with coexisting familial pituitary adenoma

Coexisting Rathke Cleft Cyst and Pituitary Adenoma Presenting with Pituitary Apoplexy: Report of Two Cases

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

Symptomatic Rathke's cleft cyst with a co-existing pituitary tumor; Brief review of the literature

E2F1 activation is responsible for pituitary adenomas induced by HMGA2 gene overexpression

A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

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

FMCGP: frameshift mutation cartesian genetic programming

Pituitary

Pituitary

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

Cantú syndrome with coexisting familial pituitary adenoma

Coexisting Rathke Cleft Cyst and Pituitary Adenoma Presenting with Pituitary Apoplexy: Report of Two Cases

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

Symptomatic Rathke's cleft cyst with a co-existing pituitary tumor; Brief review of the literature

E2F1 activation is responsible for pituitary adenomas induced by HMGA2 gene overexpression

A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

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

FMCGP: frameshift mutation cartesian genetic programming

Pituitary

Pituitary

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

Cantú syndrome with coexisting familial pituitary adenoma

Coexisting Rathke Cleft Cyst and Pituitary Adenoma Presenting with Pituitary Apoplexy: Report of Two Cases

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

Symptomatic Rathke's cleft cyst with a co-existing pituitary tumor; Brief review of the literature

E2F1 activation is responsible for pituitary adenomas induced by HMGA2 gene overexpression

A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

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

FMCGP: frameshift mutation cartesian genetic programming

Pituitary

Pituitary

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

Related objects

Reset password