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1

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

Labarta, José I., Barrio, Eva, Audí, Laura, Fernández-Cancio, Mónica, Andaluz, Pilar, de Arriba, Antonio, Puga, Beatriz, Calvo, María T., Mayayo, Esteban, Carrascosa, Antonio, Ferrández-Longás, Angel

Journal:

Clinical Endocrinology

Year:

2013

Language:

english

File:

PDF, 369 KB

english, 2013

2

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

Martinez de LaPiscina, Idoia, de Mingo, Carmen, Riedl, Stefan, Rodriguez, Amaia, Pandey, Amit V., Fernández-Cancio, Mónica, Camats, Nuria, Sinclair, Andrew, Castaño, Luis, Audi, Laura, Flück, Christa

Journal:

Frontiers in Endocrinology

Year:

2018

Language:

english

File:

PDF, 913 KB

english, 2018

3

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Tack, Lloyd J.W., Maris, Ellen, Looijenga, Leendert H.J., Hannema, Sabine E., Audi, Laura, Köhler, Birgit, Holterhus, Paul-Martin, Riedl, Stefan, Wisniewski, Amy , Flück, Christa E., Davies, Justin H.

Journal:

Hormone Research in Paediatrics

Year:

2018

Language:

english

File:

PDF, 324 KB

english, 2018

4

Gene-environment interplay in common complex diseases: forging an integrative model—recommendations from an NIH workshop

Ebony B. Bookman, Kimberly McAllister, Elizabeth Gillanders, Kay Wanke, David Balshaw, Joni Rutter, Jill Reedy, Daniel Shaughnessy, Tanya Agurs-Collins, Dina Paltoo, Audie Atienza, Laura Bierut, Peter

Journal:

Genetic Epidemiology

Year:

2011

Language:

english

File:

PDF, 131 KB

english, 2011

5

ACTH-dependent precocious pseudopuberty in an infant withDAX1gene mutation

Diego Yeste, Cristina González-Niño, Guiomar Pérez de Nanclares, Gustavo Pérez-Nanclares, Laura Audi, Luis Castaño, Antonio Carrascosa

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 243 KB

english, 2009

6

Human growth hormone (GH1) gene polymorphism map in a normal-statured adult population

Cristina Esteban, Laura Audí, Antonio Carrascosa, Mónica Fernández-Cancio, Annalisa Pérez-Arroyo, Angels Ulied, Pilar Andaluz, Rosa Arjona, Marian Albisu, María Clemente, Miquel Gussinyé, Diego Yeste

Journal:

Clinical Endocrinology

Year:

2007

Language:

english

File:

PDF, 1.66 MB

english, 2007

7

GNAS1 Mutation and Cbfa1 Misexpression in a Child with Severe Congenital Platelike Osteoma Cutis

George L. Yeh, Sameer Mathur, Ashley Wivel, Ming Li, Francis H. Gannon, Angels Ulied, Laura Audi, Elizabeth A. Olmsted, Frederick S. Kaplan, Eileen M. Shore

Journal:

Journal of Bone and Mineral Research

Year:

2000

Language:

english

File:

PDF, 2.26 MB

english, 2000

8

Vascular Endothelial Growth Factor Is Expressed in Human Fetal Growth Cartilage

Marta Garcia-Ramirez, Nuria Toran, Pilar Andaluz, Antonio Carrascosa, Laura Audi

Journal:

Journal of Bone and Mineral Research

Year:

2000

Language:

english

File:

PDF, 660 KB

english, 2000

9

Anomalous Costochondral Cartilage in Fetal Anencephaly

Garcia-Ramirez, Marta, Toran, Nuria, Carrascosa, Antonio, Audi, Laura

Journal:

Pediatric and Developmental Pathology

Year:

2000

Language:

english

File:

PDF, 825 KB

english, 2000

10

Letters to the Editors

Journal:

Clinical Endocrinology

Year:

1992

Language:

english

File:

PDF, 104 KB

english, 1992

11

Analytical performance and clinical usefulness of two binding assays for growth hormone binding protein (GHBP) measurement: high performance liquid chromatography (HPLC)-gel filtration and dextran-coated charcoal adsorption

Maria Antonia Llopis, Maria Luisa Granada, Laura Audı́, Anna Sanmartı́, Joan Bel, Luis Sánchez-Planell, Xavier Formiguera, Fernando Marin, August Corominas

Journal:

Clinica Chimica Acta

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

12

Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height

Núria Camats, Mónica Fernández-Cancio, Antonio Carrascosa, Pilar Andaluz, M. Ángeles Albisu, María Clemente, Miquel Gussinyé, Diego Yeste, Laura Audí

Journal:

Clinical Endocrinology

Year:

2012

Language:

english

File:

PDF, 231 KB

english, 2012

13

Design, Synthesis, and Evaluations of Substituted 3-[(3- or 4-Carboxyethylpyrrol-2-yl)methylidenyl]indolin-2-ones as Inhibitors of VEGF, FGF, and PDGF Receptor Tyrosine Kinases

Sun, Li, Tran, Ngoc, Liang, Congxin, Tang, Flora, Rice, Audie, Schreck, Randall, Waltz, Kara, Shawver, Laura K., McMahon, Gerald, Tang, Cho

Journal:

Journal of Medicinal Chemistry

Year:

1999

Language:

english

File:

PDF, 206 KB

english, 1999

14

Determinant factors of gender identity: A commentary

Lih-Mei Liao, Laura Audi, Ellie Magritte, Heino F.L. Meyer-Bahlburg, Charmian A. Quigley

Journal:

Journal of Pediatric Urology

Year:

2012

Language:

english

File:

PDF, 111 KB

english, 2012

15

Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin

Mónica Fernández-Cancio, Manuel Nistal, Ricardo Gracia, M. Antonia Molina, Juan Antonio Tovar, Cristina Esteban, Antonio Carrascosa, Laura Audí

Journal:

Journal of Andrology

Year:

2004

Language:

english

File:

PDF, 260 KB

english, 2004

16

Understanding the in vivo uptake kinetics of a phosphatidylethanolamine-binding agent 99mTc-Duramycin

Said Audi, Zhixin Li, Joseph Capacete, Yu Liu, Wei Fang, Laura G. Shu, Ming Zhao

Journal:

Nuclear Medicine and Biology

Year:

2012

Language:

english

File:

PDF, 378 KB

english, 2012

17

Inhibidores de la aromatasa: ¿pueden mejorar el crecimiento esquelético?

Laura Audí Parera

Journal:

Endocrinología y Nutrición

Year:

2009

File:

PDF, 133 KB

2009

18

MALE PSEUDOHERMAPHRODITISM WITH HYPERTENSION DUE TO A 17α-HYDROXYLATION DEFICIENCY

JACQUES TOURNIAIRE, LAURA AUDI-PARERA, BERNADETTE LORAS, JACQUES BLUM, PAUL CASTELNOVO, MAGUELONE G. FOREST

Journal:

Clinical Endocrinology

Year:

1976

Language:

english

File:

PDF, 1.02 MB

english, 1976

19

Crecimiento fetal y glucocorticoides

Laura Audí Parera

Journal:

Medicina Clínica

Year:

2006

File:

PDF, 59 KB

2006

20

Influencia de la edad de inicio del brote de crecimiento puberal en la talla adulta

Antonio Carrascosa, Laura Audí, Joan Bosch-Castañé, Miguel Gussinyé, Diego Yeste, María Ángeles Albisu, María Clemente, Ángel Ferrández, Luis Baguer

Journal:

Medicina Clínica

Year:

2008

File:

PDF, 90 KB

2008

21

Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry

Cox, Kathryn, Bryce, Jillian, Jiang, Jipu, Rodie, Martina, Sinnott, Richard, Alkhawari, Mona, Arlt, Wiebke, Audi, Laura, Balsamo, Antonio, Bertelloni, Silvano, Cools, Martine, Darendeliler, Feyza, Dro

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2014

Language:

english

File:

PDF, 475 KB

english, 2014

22

Baja sensibilidad del IGF-I, la IGFBP-3 y la GH urinaria en el diagnóstico de la insuficiencia de la hormona del crecimiento en niños y adolescentes varones con talla baja y velocidad de crecimiento disminuida

Laura Audí, M., Antonia Llopis, M.P., Granada, Luisa, Hermoso, Florinda, del Valle, Jorge, Dolores Rodríguez-Arnao, M., Bel, Joan, Luzuriaga, Cristina, Gallego, Elena, Marín, Fernando

Journal:

Medicina Clínica

Year:

2001

File:

PDF, 92 KB

2001

23

Decreased cell proliferation and higher oxidative stress in fibroblasts from Down Syndrome fetuses. Preliminary study

Gimeno, Amparo, García-Giménez, José Luis, Audí, Laura, Toran, Nuria, Andaluz, Pilar, Dasí, Francisco, Viña, José, Pallardó, Federico V.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2014

Language:

english

File:

PDF, 1.15 MB

english, 2014

24

Androgen binding protein is tissue-specifically expressed and biologically active in transgenic mice

Larriba, Sara, Esteban, Cristina, Toràn, Núria, Gérard, Anne, Audí, Laura, Gérard, Hubert, Reventós, Jaume

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Year:

1995

Language:

english

File:

PDF, 922 KB

english, 1995

25

Asociación de los polimorfismos del gen del receptor de la vitamina D con la diabetes mellitus tipo 1 en dos poblaciones españolas

Martí, Gertrudis, Audí, Laura, Esteban, Cristina, Oyarzábal, Miren, Chueca, María, Gussinyé, Miquel, Yeste, Diego, Fernández-Cancio, Mónica, Andaluz, Pilar, Carrascosa, Antonio

Journal:

Medicina Clínica

Year:

2004

File:

PDF, 116 KB

2004

26

Actualización del crecimiento del esqueleto humano y sus indicadores

Audí Parera, Laura

Journal:

Medicina Clínica

Year:

2004

File:

PDF, 58 KB

2004

27

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases

Camats, Núria, Pandey, Amit V., Fernández-Cancio, Mónica, Fernández, Juan M., Ortega, Ana M., Udhane, Sameer, Andaluz, Pilar, Audí, Laura, Flück, Christa E.

Journal:

Clinical Endocrinology

Year:

2014

Language:

english

File:

PDF, 395 KB

english, 2014

28

Clinical usefulness of growth hormone secretion elicited by acute stimulation tests

Audí, Laura, Carrascosa, Antonio

Journal:

Clinical Endocrinology

Year:

2013

File:

PDF, 21 KB

2013

29

Clinical usefulness of growth hormone secretion elicited by acute stimulation tests

Laura, Audí, Antonio, Carrascosa

Journal:

Clinical Endocrinology

Year:

2013

Language:

english

File:

PDF, 39 KB

english, 2013

30

Woman with virilizing congenital adrenal hyperplasia and leydig cell tumor of the ovary

Fernández-García Salazar, Rosario, Muñoz-Darias, Carmen, Jesús Haro-Mora, Juan, Almaraz, M. Cruz, Audí, Laura, Martínez-Tudela, Juana, Yahyaoui, Raquel, Esteva, Isabel

Journal:

Gynecological Endocrinology

Year:

2014

Language:

english

File:

PDF, 393 KB

english, 2014

31

Loss of the C Terminus of Melanocortin Receptor 2 (MC2R) Results in Impaired Cell Surface Expression and ACTH Insensitivity

Hirsch, Andrea, Meimaridou, Eirini, Fernandez-Cancio, Monica, Pandey, Amit V., Clemente, María, Audi, Laura, Clark, Adrian J. L., Flück, Christa E.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 323 KB

english, 2011

32

Clinical and Biochemical Determinants of Bone Metabolism and Bone Mass in Adolescent Female Patients with Anorexia Nervosa

Audí, Laura, Vargas, Deisi M, Gussinyé, Miquel, Yeste, Diego, Martí, Gertrudis, Carrascosa, Antonio

Journal:

Pediatric Research

Year:

2002

File:

PDF, 63 KB

2002

33

Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism Genotype Frequencies in Spanish Short Small-for-Gestational-Age (SGA) Children and Adolescents (n = 247) and in an Adult Control Population (n = 289) Show Increased fl/fl in Short SGA

Audí, Laura, Esteban, Cristina, Carrascosa, Antonio, Espadero, Rosa, Pérez-Arroyo, Annalisa, Arjona, Rosa, Clemente, María, Wollmann, Hartmut, Fryklund, Linda, Parodi, Luis A.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 101 KB

english, 2006

34

Clinical and Biochemical Determinants of Bone Metabolism and Bone Mass in Adolescent Female Patients with Anorexia Nervosa

Audí, Laura, Vargas, Deisi M, Gussinyé, Miquel, Yeste, Diego, Martí, Gertrudis, Carrascosa, Antonio

Journal:

Pediatric Research

Year:

2002

Language:

english

File:

PDF, 63 KB

english, 2002

35

Morphologic and Metabolic Development of Human Fetal Epiphyseal Chondrocytes in Primary Culture

Carrascosa, Antonio, Audí, Laura, Ballabriga, Angel

Journal:

Pediatric Research

Year:

1985

Language:

english

File:

PDF, 789 KB

english, 1985

36

Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency

França, Marcela M., Jorge, Alexander A. L., Alatzoglou, Kyriaki S., Carvalho, Luciani R. S., Mendonca, Berenice B., Audi, Laura, Carrascosa, Antonio, Dattani, Mehul T., Arnhold, Ivo J. P.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

37

Loss of the C Terminus of Melanocortin Receptor 2 (MC2R) Results in Impaired Cell Surface Expression and ACTH Insensitivity

Hirsch, Andrea, Meimaridou, Eirini, Fernandez-Cancio, Monica, Pandey, Amit V., Clemente, María, Audi, Laura, Clark, Adrian J. L., Flück, Christa E.

Journal:

Year:

2010

Language:

english

File:

PDF, 35 KB

english, 2010

38

Rickets in the Middle East: Role of Environment and Genetic Predisposition

Baroncelli, Giampiero I., Bereket, Abdullah, El Kholy, Mohamed, Audì, Laura, Cesur, Yasar, Ozkan, Behzat, Rashad, Mona, Fernández-Cancio, Monica, Weisman, Yoseph, Saggese, Giuseppe, Hochberg, Ze'ev

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2008

Language:

english

File:

PDF, 161 KB

english, 2008

39

Growth hormone/insulin-like growth factors axis in children undergoing cardiac surgery

Balcells, Joan, Moreno, Antonio, Audí, Laura, Roqueta, Jordi, Iglesias, Juan, Carrascosa, Antonio

Journal:

Critical Care Medicine

Year:

2001

Language:

english

File:

PDF, 888 KB

english, 2001

40

A Tumor-Derived Protein which Provides T-Cell Costimulation through Accessory Cell Activation

Powell, T. J., Schreck, Randall, McCall, Miloe, Hui, Terence, Rice, Audie, App, Harald, Azam, Mohammad, Ullrich, Axel, Shawver, Laura K.

Journal:

Journal of Immunotherapy

Year:

1995

File:

PDF, 1.07 MB

1995

41

Nutritional rickets: vitamin D, calcium, and the genetic make-up

El Kholy, Mohamed, Elsedfy, Heba, Fernández-Cancio, Monica, Hamza, Rasha Tarif, Amr, Nermine Hussein, Ahmed, Alaa Youssef, Toaima, Nadin Nabil, Audí, Laura

Journal:

Pediatric Research

Year:

2017

Language:

english

File:

PDF, 663 KB

english, 2017

42

Promoter-Dependent Activity on Androgen Receptor N-Terminal Domain Mutations in Androgen Insensitivity Syndrome

Tadokoro-Cuccaro, Rieko, Davies, John, Mongan, Nigel P., Bunch, Trevor, Brown, Rosalind S., Audi, Laura, Watt, Kate, McEwan, Iain J., Hughes, Ieuan A.

Journal:

Sexual Development

Year:

2014

Language:

english

File:

PDF, 1.03 MB

english, 2014

43

Development of Laboratory Investigations in Disorders of Sex Development

Audí, Laura, Camats, Núria, Fernández-Cancio, Mónica, Granada, María L.

Journal:

Sexual Development

Year:

2017

Language:

english

File:

PDF, 152 KB

english, 2017

44

Hiperandrogenismo transitorio en 2 gemelas prematuras expuestas a antirretrovirales

García García, Emilio, Falcón-Neyra, Lola, Audí, Laura

Journal:

Medicina Clínica

Year:

2017

File:

PDF, 253 KB

2017

45

Transient hyperandrogenism in 2 preterm twins with exposure to antiretrovirals

García García, Emilio, Falcón-Neyra, Lola, Audí, Laura

Journal:

Medicina Clínica (English Edition)

Year:

2017

Language:

english

File:

PDF, 254 KB

english, 2017

46

Hyperoxia Causes Mitochondrial Fragmentation in Pulmonary Endothelial Cells by Increasing Expression of Pro-Fission Proteins

Ma, Cui, Beyer, Andreas M., Durand, Matthew, Clough, Anne V., Zhu, Daling, Norwood Toro, Laura, Terashvili, Maia, Ebben, Johnathan D., Hill, R. Blake, Audi, Said H., Medhora, Meetha, Jacobs, Elizabeth

Journal:

Arteriosclerosis Thrombosis and Vascular Biology

Year:

2018

Language:

english

File:

PDF, 2.05 MB

english, 2018

47

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Camats, Núria, Fernández-Cancio, Mónica, Audí, Laura, Schaller, André, Flück, Christa E.

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.23 MB

english, 2018

48

Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

Flück, Christa E., Pandey, Amit V., Dick, Bernhard, Camats, Núria, Fernández-Cancio, Mónica, Clemente, María, Gussinyé, Miquel, Carrascosa, Antonio, Mullis, Primus E., Audi, Laura, Dahlman, Ingrid A.

Journal:

Year:

2011

Language:

english

File:

PDF, 637 KB

english, 2011

49

A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

Hornig, Nadine C., de Beaufort, Carine, Denzer, Friederike, Cools, Martine, Wabitsch, Martin, Ukat, Martin, Kulle, Alexandra E., Schweikert, Hans-Udo, Werner, Ralf, Hiort, Olaf, Audi, Laura, Siebert,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.25 MB

english, 2016

50

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

Sanders, Caroline, Hall, Joanne, Sanders, Caroline, Dessens, Arianne, Bryce, Jillian, Callens, Nina, Cools, Martine, Kourime, Mariam, Kyriakou, Andreas, Springer, Alexander, Audi, Laura, Balsamo, Anto

Journal:

Sexual Development

Year:

2018

Language:

english

File:

PDF, 85 KB

english, 2018

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