Two novel heterozygous missense variations within the GLI2 gene in two unrelated Argentine patients.
Matías Juanes, Isabel Di Palma, Marta Ciaccio, Roxana Marino, Pablo C Ramírez, Natalia Pérez Garrid, Mercedes Maceiras, Juan M Lazzati, Marco A Rivarola, Alicia Belgorosky. Medicina (B Aires) 2016
Times Cited: 3
Times Cited: 3
Times Cited
Times Co-cited
Similarity
Hedgehog signaling is required for pituitary gland development.
M Treier, S O'Connell, A Gleiberman, J Price, D P Szeto, R Burgess, P T Chuang, A P McMahon, M G Rosenfeld. Development 2001
M Treier, S O'Connell, A Gleiberman, J Price, D P Szeto, R Burgess, P T Chuang, A P McMahon, M G Rosenfeld. Development 2001
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Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.
Nitash Zwaveling-Soonawala, Marielle Alders, Aldo Jongejan, Lidija Kovacic, Floor A Duijkers, Saskia M Maas, Eric Fliers, A S Paul van Trotsenburg, Raoul C Hennekam. J Clin Endocrinol Metab 2018
Nitash Zwaveling-Soonawala, Marielle Alders, Aldo Jongejan, Lidija Kovacic, Floor A Duijkers, Saskia M Maas, Eric Fliers, A S Paul van Trotsenburg, Raoul C Hennekam. J Clin Endocrinol Metab 2018
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A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.
Toshihiko Shirakawa, Yumiko Nakashima, Satoshi Watanabe, Sadatomo Harada, Mariko Kinoshita, Toshiharu Kihara, Yuko Hamasaki, Seiichiro Shishido, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi,[...]. CEN Case Rep 2018
Toshihiko Shirakawa, Yumiko Nakashima, Satoshi Watanabe, Sadatomo Harada, Mariko Kinoshita, Toshiharu Kihara, Yuko Hamasaki, Seiichiro Shishido, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi,[...]. CEN Case Rep 2018
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Differential requirements for Gli2 and Gli3 in the regional specification of the mouse hypothalamus.
Roberta Haddad-Tóvolli, Fabian A Paul, Yuanfeng Zhang, Xunlei Zhou, Thomas Theil, Luis Puelles, Sandra Blaess, Gonzalo Alvarez-Bolado. Front Neuroanat 2015
Roberta Haddad-Tóvolli, Fabian A Paul, Yuanfeng Zhang, Xunlei Zhou, Thomas Theil, Luis Puelles, Sandra Blaess, Gonzalo Alvarez-Bolado. Front Neuroanat 2015
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Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
Deepak Babu, Antonella Fanelli, Simona Mellone, Ranjith Muniswamy, Malgorzata Wasniewska, Flavia Prodam, Antonella Petri, Simonetta Bellone, Maria Carolina Salerno, Mara Giordano. Clin Endocrinol (Oxf) 2019
Deepak Babu, Antonella Fanelli, Simona Mellone, Ranjith Muniswamy, Malgorzata Wasniewska, Flavia Prodam, Antonella Petri, Simonetta Bellone, Maria Carolina Salerno, Mara Giordano. Clin Endocrinol (Oxf) 2019
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Timing of androgen receptor disruption and estrogen exposure underlies a spectrum of congenital penile anomalies.
Zhengui Zheng, Brooke A Armfield, Martin J Cohn. Proc Natl Acad Sci U S A 2015
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Hedgehog signalling in endocrine development and disease.
Peter J King, Leonardo Guasti, Ed Laufer. J Endocrinol 2008
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[Polycystic kidney disease: a hairbreadth discovery].
Rodolfo S Martín, Pablo J Azumendi. Medicina (B Aires) 2008
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Primary cilia in the developing pig testis.
Young Ou, Camila Dores, Jose-Rafael Rodriguez-Sosa, Frans A van der Hoorn, Ina Dobrinski. Cell Tissue Res 2014
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Expression and function of sonic hedgehog pathway components in pituitary adenomas: evidence for a direct role in hormone secretion and cell proliferation.
Greisa Vila, Marily Theodoropoulou, Johanna Stalla, Jörg C Tonn, Marco Losa, Ulrich Renner, Günter K Stalla, Marcelo Paez-Pereda. J Clin Endocrinol Metab 2005
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Primary cilia in the developing and mature brain.
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[Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma].
Luis D Mazzuoccolo, María Florencia Martínez, Carolina Muchnik, Pablo J Azurmendi, Fernando Stengel. Medicina (B Aires) 2014
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The primary cilium: a signalling centre during vertebrate development.
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Immunohistochemical demonstration of dopamine receptor D2R in the primary cilia of the mouse pituitary gland.
Toshihiko Iwanaga, Yasukazu Hozumi, Hiromi Takahashi-Iwanaga. Biomed Res 2011
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Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.
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LHX4 Gene Alterations: Patient Report and Review of the Literature.
Zoran Gucev, Velibor Tasic, Dijana Plaseska-Karanfilska, Marina Krstevska Konstantinova, Ana Stamatova, Marija Dimishkovska, Nevenka Laban, Momir Polenakovic. Pediatr Endocrinol Rev 2016
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Heterozygous defects in PAX6 gene and congenital hypopituitarism.
Masaki Takagi, Keisuke Nagasaki, Ikuma Fujiwara, Tomohiro Ishii, Naoko Amano, Yumi Asakura, Koji Muroya, Yukihiro Hasegawa, Masanori Adachi, Tomonobu Hasegawa. Eur J Endocrinol 2015
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High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.
Ruta Navardauskaite, Petra Dusatkova, Barbora Obermannova, Roland W Pfaeffle, Werner F Blum, Dalia Adukauskiene, Natalija Smetanina, Ondrej Cinek, Rasa Verkauskiene, Jan Lebl. J Clin Endocrinol Metab 2014
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Single-Cell RNA Sequencing Reveals Novel Markers of Male Pituitary Stem Cells and Hormone-Producing Cell Types.
Leonard Y M Cheung, Akima S George, Stacey R McGee, Alexandre Z Daly, Michelle L Brinkmeier, Buffy S Ellsworth, Sally A Camper. Endocrinology 2018
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High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.
Zita Halász, Judit Toke, Attila Patócs, Rita Bertalan, Zsófia Tömböl, Agnes Sallai, Eva Hosszú, Agota Muzsnai, László Kovács, János Sólyom,[...]. Endocrine 2006
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Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, Maximilian Er Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, Jose Maria Garcia-Aznar, Martin Werber,[...]. Eur J Hum Genet 2017
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Canonical WNT Signaling Regulates the Pituitary Organizer and Pituitary Gland Formation.
Allison M Osmundsen, Jessica L Keisler, M Mark Taketo, Shannon W Davis. Endocrinology 2017
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Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K Kanters,[...]. Nat Commun 2017
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Multiple Roles of Pitx2 in Cardiac Development and Disease.
Diego Franco, David Sedmera, Estefanía Lozano-Velasco. J Cardiovasc Dev Dis 2017
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Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
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[Clinical and genetic aspects of combined pituitary hormone deficiencies].
F Castinetti, R Reynaud, A Saveanu, M-H Quentien, F Albarel, A Barlier, A Enjalbert, T Brue. Ann Endocrinol (Paris) 2008
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A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene.
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FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency.
Hiroko Boda, Masafumi Miyata, Hidehito Inagaki, Yasuko Shinkai, Takema Kato, Tetsushi Yoshikawa, Hiroki Kurahashi. Eur J Med Genet 2019
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Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.
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Insulinoma-associated protein 1 (INSM1) is a sensitive and highly specific marker of neuroendocrine differentiation in primary lung neoplasms: an immunohistochemical study of 345 cases, including 292 whole-tissue sections.
Sanjay Mukhopadhyay, Josephine K Dermawan, Christopher P Lanigan, Carol F Farver. Mod Pathol 2019
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The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.
J D Cogan, W Wu, J A Phillips, I J Arnhold, A Agapito, O V Fofanova, M G Osorio, I Bircan, A Moreno, B B Mendonca. J Clin Endocrinol Metab 1998
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NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement.
Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár. Front Genet 2018
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Interpreting human genetic variation with in vivo zebrafish assays.
Erica E Davis, Stephan Frangakis, Nicholas Katsanis. Biochim Biophys Acta 2014
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Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
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Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism.
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Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
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European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.
Juliane Léger, Antonella Olivieri, Malcolm Donaldson, Toni Torresani, Heiko Krude, Guy van Vliet, Michel Polak, Gary Butler. J Clin Endocrinol Metab 2014
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Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
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Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.
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Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.
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Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1.
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Isolated corticotrophin deficiency.
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PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.
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Functional analysis of mutations in TGIF associated with holoprosencephaly.
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HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
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Evaluation and treatment of adult growth hormone deficiency: an Endocrine Society clinical practice guideline.
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Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.