Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic IGF1R Mutation

Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.

Duyvenvoorde, H.A. van
Setten, P.A. van
Walenkamp, M.J.
Doorn, J. van
Koenig, J.
Gauguin, L.
Oostdijk, W.
Ruivenkamp, C.A.
Losekoot, M.
Wade, J.D.
Meyts, P. De
Karperien, M.
Noordam, C.
Wit, J.M.

January 2010

Item does not contain fulltextCONTEXT: Homozygous IGF1 deletions or mutations lead to severe short s...

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2-> qter deletion detected by multiplex ligation probe amplification

Walenkamp, Marie J. E.
Keizer-Schrama, Sabine M. P. F. de Muinck
de Mos, Marianne
Kalf, Margot E.
van Duyvenvoorde, Hermine A.
Boot, Annemieke M.
Kant, Sarina G.
White, Stefan J.
Losekoot, Monique
Den Dunnen, Johan T.
Karperien, Marcel
Wit, Jan M.

June 2008

Context: Microscopically visible heterozygous terminal 15q deletions encompassing the IGF1R gene are...

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2-> qter deletion detected by multiplex ligation probe amplification

Walenkamp, Marie J. E.
Keizer-Schrama, Sabine M. P. F. de Muinck
de Mos, Marianne
Kalf, Margot E.
van Duyvenvoorde, Hermine A.
Boot, Annemieke M.
Kant, Sarina G.
White, Stefan J.
Losekoot, Monique
Den Dunnen, Johan T.
Karperien, Marcel
Wit, Jan M.

June 2008

Context: Microscopically visible heterozygous terminal 15q deletions encompassing the IGF1R gene are...

Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.

Labarta, J
Barrio, E
Audí, L
Fernández-Cancio, M
Andaluz, P
de Arriba, A
Puga, B
Calvo, M
Mayayo, E
Carrascosa, A
Ferrández-Longás, A

January 2013

CONTEXT: IGF-I is essential for normal human growth and mediates its effects through the IGF1R. IGF1...

Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

-

Context: Small for gestational age (SGA)-born children comprise a heterogeneous group in which only ...

A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor i receptor

-

Context: The type 1 IGF-I receptor (IGF1R) mediates the biological functions of IGF-I. Binding of IG...

Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene

van Duyvenvoorde, H.A.
van Setten, P.A.
Walenkamp, M.J.E.
van Doorn, J.
Koenig, J.
Gauguin, L.
Oostdijk, W.
Ruivenkamp, C.A.L.
Losekoot, M.
Wade, J.D.
de Meyts, P.
Karperien, M.
Noordam, C.
Wit, J.M.

January 2010

CONTEXT: Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly...

Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene

Duyvenvoorde, H.A. van
Setten, P.A. van
Walenkamp, M.J.E.
Doorn, J. van
Koenig, J.
Gauguin, L.
Oostdijk, W.
Ruivenkamp, C.A.L.
Losekoot, M.
Wade, J.D.
Meyts, P. de
Karperien, M.
Noordam, C.
Wit, J.M.

November 2010

Context: Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly...

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

Gkourogianni, Alexandra
Andrade, Anenisia C.
Jonsson, Björn-Anders
Segerlund, Emma
Werner-Sperker, Antje
Horemuzova, Eva
Dahlgren, Jovanna
Burstedt, Magnus
Nilsson, Ola

January 2020

Aim: To explore the phenotype and response to growth hormone in patients with heterozygous mutations...

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

Gkourogianni, Alexandra
Andrade, Anenisia C.
Jonsson, Björn-Anders
Segerlund, Emma
Werner-Sperker, Antje
Horemuzova, Eva
Dahlgren, Jovanna
Burstedt, Magnus
Nilsson, Ola

January 2020

Aim: To explore the phenotype and response to growth hormone in patients with heterozygous mutations...

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

Gkourogianni, Alexandra
Andrade, Anenisia C.
Jonsson, Björn-Anders
Segerlund, Emma
Werner-Sperker, Antje
Horemuzova, Eva
Dahlgren, Jovanna
Burstedt, Magnus
Nilsson, Ola

January 2020

Aim: To explore the phenotype and response to growth hormone in patients with heterozygous mutations...

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

Gkourogianni, Alexandra
Andrade, Anenisia C.
Jonsson, Björn-Anders
Segerlund, Emma
Werner-Sperker, Antje
Horemuzova, Eva
Dahlgren, Jovanna
Burstedt, Magnus
Nilsson, Ola

January 2020

Aim: To explore the phenotype and response to growth hormone in patients with heterozygous mutations...

Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.

Duyvenvoorde, H.A. van
Setten, P.A. van
Walenkamp, M.J.
Doorn, J. van
Koenig, J.
Gauguin, L.
Oostdijk, W.
Ruivenkamp, C.A.
Losekoot, M.
Wade, J.D.
Meyts, P. De
Karperien, M.
Noordam, C.
Wit, J.M.

January 2010

CONTEXT: Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly...

Genetic correlates of early accelerated infant growth associated with juvenile-onset type 1 diabetes

Kharagjitsingh, A.V.
Ridder, M.A.J. de
Alizadeh, B.Z.
Veeze, H.J.
Bruining, G.J.
Roep, B.O.
Koeleman, B.P.C.

September 2011

Kharagjitsingh AV, de Ridder MAJ, Alizadeh BZ, Veeze HJ, Bruining GJ, Roep BO, Koeleman BPC. Genetic...

Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor

Walenkamp, M.J.E.
Robers, J.M.L.
Wit, J.M.
Zandwijken, G.R.J.
Duyvenvoorde, H.A. van
Oostdijk, W.
Hokken-Koelega, A.C.S.
Kant, S.G.
Losekoot, M.

August 2019

Context: The phenotype and response to GH treatment of children with an IGF1R defect is insufficient...

Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.

Duyvenvoorde, H.A. van
Setten, P.A. van
Walenkamp, M.J.
Doorn, J. van
Koenig, J.
Gauguin, L.
Oostdijk, W.
Ruivenkamp, C.A.
Losekoot, M.
Wade, J.D.
Meyts, P. De
Karperien, M.
Noordam, C.
Wit, J.M.

January 2010

Item does not contain fulltextCONTEXT: Homozygous IGF1 deletions or mutations lead to severe short s...

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2-> qter deletion detected by multiplex ligation probe amplification

Walenkamp, Marie J. E.
Keizer-Schrama, Sabine M. P. F. de Muinck
de Mos, Marianne
Kalf, Margot E.
van Duyvenvoorde, Hermine A.
Boot, Annemieke M.
Kant, Sarina G.
White, Stefan J.
Losekoot, Monique
Den Dunnen, Johan T.
Karperien, Marcel
Wit, Jan M.

June 2008

Context: Microscopically visible heterozygous terminal 15q deletions encompassing the IGF1R gene are...

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2-> qter deletion detected by multiplex ligation probe amplification

Walenkamp, Marie J. E.
Keizer-Schrama, Sabine M. P. F. de Muinck
de Mos, Marianne
Kalf, Margot E.
van Duyvenvoorde, Hermine A.
Boot, Annemieke M.
Kant, Sarina G.
White, Stefan J.
Losekoot, Monique
Den Dunnen, Johan T.
Karperien, Marcel
Wit, Jan M.

June 2008

Context: Microscopically visible heterozygous terminal 15q deletions encompassing the IGF1R gene are...

Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.

Labarta, J
Barrio, E
Audí, L
Fernández-Cancio, M
Andaluz, P
de Arriba, A
Puga, B
Calvo, M
Mayayo, E
Carrascosa, A
Ferrández-Longás, A

January 2013

CONTEXT: IGF-I is essential for normal human growth and mediates its effects through the IGF1R. IGF1...

Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

-

Context: Small for gestational age (SGA)-born children comprise a heterogeneous group in which only ...

A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor i receptor

-

Context: The type 1 IGF-I receptor (IGF1R) mediates the biological functions of IGF-I. Binding of IG...

Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene

van Duyvenvoorde, H.A.
van Setten, P.A.
Walenkamp, M.J.E.
van Doorn, J.
Koenig, J.
Gauguin, L.
Oostdijk, W.
Ruivenkamp, C.A.L.
Losekoot, M.
Wade, J.D.
de Meyts, P.
Karperien, M.
Noordam, C.
Wit, J.M.

January 2010

CONTEXT: Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly...

Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene

Duyvenvoorde, H.A. van
Setten, P.A. van
Walenkamp, M.J.E.
Doorn, J. van
Koenig, J.
Gauguin, L.
Oostdijk, W.
Ruivenkamp, C.A.L.
Losekoot, M.
Wade, J.D.
Meyts, P. de
Karperien, M.
Noordam, C.
Wit, J.M.

November 2010

Context: Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly...

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

Gkourogianni, Alexandra
Andrade, Anenisia C.
Jonsson, Björn-Anders
Segerlund, Emma
Werner-Sperker, Antje
Horemuzova, Eva
Dahlgren, Jovanna
Burstedt, Magnus
Nilsson, Ola

January 2020

Aim: To explore the phenotype and response to growth hormone in patients with heterozygous mutations...

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

Gkourogianni, Alexandra
Andrade, Anenisia C.
Jonsson, Björn-Anders
Segerlund, Emma
Werner-Sperker, Antje
Horemuzova, Eva
Dahlgren, Jovanna
Burstedt, Magnus
Nilsson, Ola

January 2020

Aim: To explore the phenotype and response to growth hormone in patients with heterozygous mutations...

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

Gkourogianni, Alexandra
Andrade, Anenisia C.
Jonsson, Björn-Anders
Segerlund, Emma
Werner-Sperker, Antje
Horemuzova, Eva
Dahlgren, Jovanna
Burstedt, Magnus
Nilsson, Ola

January 2020

Aim: To explore the phenotype and response to growth hormone in patients with heterozygous mutations...

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

Gkourogianni, Alexandra
Andrade, Anenisia C.
Jonsson, Björn-Anders
Segerlund, Emma
Werner-Sperker, Antje
Horemuzova, Eva
Dahlgren, Jovanna
Burstedt, Magnus
Nilsson, Ola

January 2020

Aim: To explore the phenotype and response to growth hormone in patients with heterozygous mutations...

Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.

Duyvenvoorde, H.A. van
Setten, P.A. van
Walenkamp, M.J.
Doorn, J. van
Koenig, J.
Gauguin, L.
Oostdijk, W.
Ruivenkamp, C.A.
Losekoot, M.
Wade, J.D.
Meyts, P. De
Karperien, M.
Noordam, C.
Wit, J.M.

January 2010

CONTEXT: Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly...

Genetic correlates of early accelerated infant growth associated with juvenile-onset type 1 diabetes

Kharagjitsingh, A.V.
Ridder, M.A.J. de
Alizadeh, B.Z.
Veeze, H.J.
Bruining, G.J.
Roep, B.O.
Koeleman, B.P.C.

September 2011

Kharagjitsingh AV, de Ridder MAJ, Alizadeh BZ, Veeze HJ, Bruining GJ, Roep BO, Koeleman BPC. Genetic...

Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor

Walenkamp, M.J.E.
Robers, J.M.L.
Wit, J.M.
Zandwijken, G.R.J.
Duyvenvoorde, H.A. van
Oostdijk, W.
Hokken-Koelega, A.C.S.
Kant, S.G.
Losekoot, M.

August 2019

Context: The phenotype and response to GH treatment of children with an IGF1R defect is insufficient...

Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.

Duyvenvoorde, H.A. van
Setten, P.A. van
Walenkamp, M.J.
Doorn, J. van
Koenig, J.
Gauguin, L.
Oostdijk, W.
Ruivenkamp, C.A.
Losekoot, M.
Wade, J.D.
Meyts, P. De
Karperien, M.
Noordam, C.
Wit, J.M.

January 2010

Item does not contain fulltextCONTEXT: Homozygous IGF1 deletions or mutations lead to severe short s...

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2-> qter deletion detected by multiplex ligation probe amplification

Walenkamp, Marie J. E.
Keizer-Schrama, Sabine M. P. F. de Muinck
de Mos, Marianne
Kalf, Margot E.
van Duyvenvoorde, Hermine A.
Boot, Annemieke M.
Kant, Sarina G.
White, Stefan J.
Losekoot, Monique
Den Dunnen, Johan T.
Karperien, Marcel
Wit, Jan M.

June 2008

Context: Microscopically visible heterozygous terminal 15q deletions encompassing the IGF1R gene are...

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2-> qter deletion detected by multiplex ligation probe amplification

Walenkamp, Marie J. E.
Keizer-Schrama, Sabine M. P. F. de Muinck
de Mos, Marianne
Kalf, Margot E.
van Duyvenvoorde, Hermine A.
Boot, Annemieke M.
Kant, Sarina G.
White, Stefan J.
Losekoot, Monique
Den Dunnen, Johan T.
Karperien, Marcel
Wit, Jan M.

June 2008

Context: Microscopically visible heterozygous terminal 15q deletions encompassing the IGF1R gene are...

Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic IGF1R Mutation

Abstract

Extracted data

Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic IGF1R Mutation

Abstract

Extracted data

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