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Christiaan de Bruin
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Journal Articles

IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Lauren D. Punt, Daniëlle C.M. van der Kaay, Petra A. van Setten, Kirsten de Groote, Anne R. Kruijsen, Gianni Bocca, Sonja A. de Munnik, Judith S. Renes, Christiaan de Bruin, Monique Losekoot, Hermine A. van Duyvenvoorde, Jan M. Wit, Sjoerd D. Joustra
Journal: Hormone Research in Paediatrics
Horm Res Paediatr 1–11.
https://doi.org/10.1159/000540053
Published Online: 28 June 2024
View articletitled, IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients
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Journal Articles

Genetic Findings in Short Turkish Children Born to Consanguineous Parents

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Sjoerd D. Joustra, Emregul Isik, Jan M. Wit, Gonul Catli, Ahmet Anik, Belma Haliloglu, Nurgun Kandemir, Elif Ozsu, Yvonne M.C. Hendriks, Christiaan de Bruin, Sarina G. Kant, Angel Campos-Barros, Rachel C. Challis, David Parry, Margaret E. Harley, Andrew Jackson, Monique Losekoot, Hermine A. van Duyvenvoorde
Journal: Hormone Research in Paediatrics
Horm Res Paediatr 1–11.
https://doi.org/10.1159/000539696
Published Online: 05 June 2024
View articletitled, Genetic Findings in Short Turkish Children Born to Consanguineous Parents
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Journal Articles

Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Judith S. Renes, Ardine M.J. Reedijk, Monique Losekoot, Sarina G. Kant, Manouk Van der Steen, Danielle C.M. Van der Kaay, Anita C.S. Hokken-Koelega, Hermine A. Van Duyvenvoorde, Christiaan de Bruin
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2024) 97 (5): 456–469.
https://doi.org/10.1159/000535651
Published Online: 17 January 2024
View articletitled, Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data
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Journal Articles

Assessment of Nutritional Status in the Diagnostic Evaluation of the Child with Growth Failure

Open Access
Subject Area:
High Impact Articles in Endocrinology , Endocrinology , Women's and Children's Health
Hester Vlaardingerbroek, Sjoerd D. Joustra, Wilma Oostdijk, Christiaan de Bruin, Jan M. Wit
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2024) 97 (1): 11–21.
https://doi.org/10.1159/000530644
Published Online: 13 April 2023
View articletitled, Assessment of Nutritional Status in the Diagnostic Evaluation of the Child with Growth Failure
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Journal Articles

Recurrent Intracranial Hypertension in a Toddler with Graves’ Disease

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Floris A. Vuijk, Christiaan de Bruin, Cacha M.P.C.D. Peeters-Scholte, Irene C. Notting
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2022) 95 (1): 88–92.
https://doi.org/10.1159/000522619
Published Online: 15 February 2022
View articletitled, Recurrent Intracranial Hypertension in a Toddler with Graves’ Disease
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Journal Articles

Ways to Improve the Diagnosis of Growth Hormone Deficiency

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Jan M. Wit, Joeri Vliegenthart, Sjoerd D. Joustra, Christiaan de Bruin, Boudewijn Bakker, Danielle C.M. van der Kaay, Gianni Bocca
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2022) 95 (1): 93–96.
https://doi.org/10.1159/000522541
Published Online: 10 February 2022
View articletitled, Ways to Improve the Diagnosis of Growth Hormone Deficiency
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Journal Articles

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Jan M. Wit, Sjoerd D. Joustra, Monique Losekoot, Hermine A. van Duyvenvoorde, Christiaan de Bruin
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2021) 94 (3-4): 81–104.
https://doi.org/10.1159/000516407
Published Online: 04 June 2021
View articletitled, Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion
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Journal Articles

Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Sjoerd D. Joustra, Gerdine A. Kamp, Susanne E. Stalman, Stephany H. Donze, Monique Losekoot, Sarina G. Kant, Christiaan de Bruin, Wilma Oostdijk, Jan M. Wit
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2020) 92 (6): 372–381.
https://doi.org/10.1159/000507215
Published Online: 28 April 2020
View articletitled, Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects
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Journal Articles

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Christiaan de Bruin, Courtney Finlayson, Mariana F.A. Funari, Gabriela A. Vasques, Bruna Lucheze Freire, Antonio M. Lerario, Melissa Andrew, Vivian Hwa, Andrew Dauber, Alexander A.L. Jorge
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2016) 86 (5): 342–348.
https://doi.org/10.1159/000446476
Published Online: 02 June 2016
View articletitled, Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia
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Journal Articles

Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Christiaan de Bruin, Zerrin Orbak, Melissa Andrew, Vivian Hwa, Andrew Dauber
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2016) 85 (5): 358–362.
https://doi.org/10.1159/000443684
Published Online: 21 January 2016
View articletitled, Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency
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