Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

Alexandra Gkourogianni; Melissa Andrew; Leah Tyzinski; Melissa Crocker; Jessica Douglas; Nancy Dunbar; Jan Fairchild; Mariana F.A. Funari; Karen E. Heath; Alexander A.L. Jorge; Tracey Kurtzman; Stephen LaFranchi; Seema Lalani; Jan Lebl; Yuezhen Lin; Evan Los; Dorothee Newbern; Catherine Nowak; Micah Olson; Jadranka Popovic; Stepanka Pruhova; Lenka Elblova; Jose Bernardo Quintos; Emma Segerlund; Lucia Sentchordi; Marwan Shinawi; Eva Lena Stattin; Jonathan Swartz; Ariadna Gonzalez Del Angel; Sinhue Diaz Cuellar; Hidekazu Hosono; Pedro A. Sanchez-Lara; Vivian Hwa; Jeffrey Baron; Ola Nilsson; Andrew Dauber

doi:10.1210/jc.2016-3313

Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

Alexandra Gkourogianni
, Melissa Andrew
, Leah Tyzinski
, Melissa Crocker
, Jessica Douglas
, Nancy Dunbar
, Jan Fairchild
, Mariana F.A. Funari
, Karen E. Heath
, Alexander A.L. Jorge
, Tracey Kurtzman
, Stephen LaFranchi
, Seema Lalani
, Jan Lebl
, Yuezhen Lin
, Evan Los
, Dorothee Newbern
, Catherine Nowak
, Micah Olson
, Jadranka Popovic

Stepanka Pruhova, Lenka Elblova, Jose Bernardo Quintos, Emma Segerlund, Lucia Sentchordi, Marwan Shinawi, Eva Lena Stattin, Jonathan Swartz, Ariadna Gonzalez Del Angel, Sinhue Diaz Cuellar, Hidekazu Hosono, Pedro A. Sanchez-Lara, Vivian Hwa, Jeffrey Baron, Ola Nilsson, Andrew Dauber

Department of Pediatrics

Karolinska University Hospital
Cincinnati Children's Hospital Medical Center
Boston Children's Hospital
Connecticut Children's Medical Center
Women's and Children's Hospital Adelaide
Universidade de São Paulo
Universidad Autónoma de Madrid
El Rio Community Health Center
Oregon Health and Science University
Baylor College of Medicine
Charles University in Prague
Phoenix Children's Hospital
University of Pittsburgh Medical Center
Hasbro Children's Hospital
Sunderby Hospital
Hospital Universitario Infanta Sofia
Washington University in St. Louis
Uppsala University
Instituto Nacional de Pediatria
Cottage Children's Medical Center
Children's Hospital of Los Angeles
National Institute of Child Health and Human Development (NICHD)
Örebro University and University Hospital

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	460-469
Number of pages	10
Journal	Journal of Clinical Endocrinology and Metabolism
Volume	102
Issue number	2
DOIs	https://doi.org/10.1210/jc.2016-3313
State	Published - Feb 1 2017

ASJC Scopus Subject Areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Endocrinology
Clinical Biochemistry
Biochemistry, medical

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10.1210/jc.2016-3313

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Gkourogianni, A., Andrew, M., Tyzinski, L., Crocker, M., Douglas, J., Dunbar, N., Fairchild, J., Funari, M. F. A., Heath, K. E., Jorge, A. A. L., Kurtzman, T., LaFranchi, S., Lalani, S., Lebl, J., Lin, Y., Los, E., Newbern, D., Nowak, C., Olson, M., ... Dauber, A. (2017). Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations. Journal of Clinical Endocrinology and Metabolism, 102(2), 460-469. https://doi.org/10.1210/jc.2016-3313

Gkourogianni, A, Andrew, M, Tyzinski, L, Crocker, M, Douglas, J, Dunbar, N, Fairchild, J, Funari, MFA, Heath, KE, Jorge, AAL, Kurtzman, T, LaFranchi, S, Lalani, S, Lebl, J, Lin, Y, Los, E, Newbern, D, Nowak, C, Olson, M, Popovic, J, Pruhova, S, Elblova, L, Quintos, JB, Segerlund, E, Sentchordi, L, Shinawi, M, Stattin, EL, Swartz, J, Del Angel, AG, Cuellar, SD, Hosono, H, Sanchez-Lara, PA, Hwa, V, Baron, J, Nilsson, O & Dauber, A 2017, 'Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations', Journal of Clinical Endocrinology and Metabolism, vol. 102, no. 2, pp. 460-469. https://doi.org/10.1210/jc.2016-3313

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author = "Alexandra Gkourogianni and Melissa Andrew and Leah Tyzinski and Melissa Crocker and Jessica Douglas and Nancy Dunbar and Jan Fairchild and Funari, \{Mariana F.A.\} and Heath, \{Karen E.\} and Jorge, \{Alexander A.L.\} and Tracey Kurtzman and Stephen LaFranchi and Seema Lalani and Jan Lebl and Yuezhen Lin and Evan Los and Dorothee Newbern and Catherine Nowak and Micah Olson and Jadranka Popovic and Stepanka Pruhova and Lenka Elblova and Quintos, \{Jose Bernardo\} and Emma Segerlund and Lucia Sentchordi and Marwan Shinawi and Stattin, \{Eva Lena\} and Jonathan Swartz and \{Del Angel\}, \{Ariadna Gonzalez\} and Cuellar, \{Sinhue Diaz\} and Hidekazu Hosono and Sanchez-Lara, \{Pedro A.\} and Vivian Hwa and Jeffrey Baron and Ola Nilsson and Andrew Dauber",

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AU - Gkourogianni, Alexandra

AU - Andrew, Melissa

AU - Tyzinski, Leah

AU - Crocker, Melissa

AU - Douglas, Jessica

AU - Dunbar, Nancy

AU - Fairchild, Jan

AU - Funari, Mariana F.A.

AU - Heath, Karen E.

AU - Jorge, Alexander A.L.

AU - Kurtzman, Tracey

AU - LaFranchi, Stephen

AU - Lalani, Seema

AU - Lebl, Jan

AU - Lin, Yuezhen

AU - Los, Evan

AU - Newbern, Dorothee

AU - Nowak, Catherine

AU - Olson, Micah

AU - Popovic, Jadranka

AU - Pruhova, Stepanka

AU - Elblova, Lenka

AU - Quintos, Jose Bernardo

AU - Segerlund, Emma

AU - Sentchordi, Lucia

AU - Shinawi, Marwan

AU - Stattin, Eva Lena

AU - Swartz, Jonathan

AU - Del Angel, Ariadna Gonzalez

AU - Cuellar, Sinhue Diaz

AU - Hosono, Hidekazu

AU - Sanchez-Lara, Pedro A.

AU - Hwa, Vivian

AU - Baron, Jeffrey

AU - Nilsson, Ola

AU - Dauber, Andrew

PY - 2017/2/1

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JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

IS - 2

ER -

Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

ASJC Scopus Subject Areas

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