Publications

96 entries « 1 of 2 »

2024

Jung, Younghun; Ay, Birol; Cyr, Sajin M; Tognoni, Christina M; Klovdahl, Kaitlin; Matthias, Julia; Cui, Qiuxia; Brooks, Daniel J; Bouxsein, Mary L; Carreras, Isabel; Dedeoglu, Alpaslan; Bastepe, Murat

Amyloid-β neuropathology induces bone loss in male mice by suppressing bone formation and enhancing bone resorption Journal Article

In: Bone Rep, vol. 21, pp. 101771, 2024, ISSN: 2352-1872.

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Iwasaki, Yorihiro; Reyes, Monica; Jüppner, Harald; Bastepe, Murat

GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B Journal Article

In: JCI Insight, vol. 9, no. 5, 2024, ISSN: 2379-3708.

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Ay, Birol; Cyr, Sajin Marcus; Klovdahl, Kaitlin; Zhou, Wen; Tognoni, Christina M; Iwasaki, Yorihiro; Rhee, Eugene P; Dedeoglu, Alpaslan; Simic, Petra; Bastepe, Murat

Gα11 deficiency increases fibroblast growth factor 23 levels in a mouse model of familial hypocalciuric hypercalcemia Journal Article

In: JCI Insight, vol. 9, no. 9, 2024, ISSN: 2379-3708.

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2023

Menevse, Tuba Seven; Iwasaki, Yorihiro; Abali, Zehra Yavas; Tosun, Busra Gurpinar; Helvacioglu, Didem; Dogru, Ömer; Bugdayci, Onur; Cyr, Sajin M; Güran, Tulay; Bereket, Abdullah; Bastepe, Murat; Turan, Serap

Venous thrombosis in a pseudohypoparathyroidism patient with a novel GNAS frameshift mutation and complete resolution of vascular calcifications with acetazolamide treatment Miscellaneous

2023, ISSN: 1663-2826.

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Xie, Han; Bastepe, Isinsu; Zhou, Wen; Ay, Birol; Ceraj, Zara; Portales-Castillo, Ignacio A; Liu, Eva S; Burnett-Bowie, Sherri-Ann M; Jüppner, Harald; Rhee, Eugene P; Bastepe, Murat; Simic, Petra

1,25-Dihydroxyvitamin D3 regulates furin-mediated FGF23 cleavage Journal Article

In: JCI Insight, vol. 8, no. 17, 2023, ISSN: 2379-3708.

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Iwasaki, Yorihiro; Aksu, Cagri; Reyes, Monica; Ay, Birol; He, Qing; Bastepe, Murat

The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis Journal Article

In: J Clin Invest, vol. 133, no. 8, 2023, ISSN: 1558-8238.

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2022

Phan, Hoa T N; Loomis, Joseph; Abraham, Saji; He, Qing; Bastepe, Murat; Smrcka, Alan V

A naturally occurring membrane-anchored Gα variant, XLα, activates phospholipase Cβ4 Journal Article

In: J Biol Chem, vol. 298, no. 8, pp. 102134, 2022, ISSN: 1083-351X.

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Keidai, Yamato; Iwasaki, Yorihiro; Iwasaki, Kanako; Honjo, Sachiko; Bastepe, Murat; Hamasaki, Akihiro

Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights Into the Pathogenesis of Methylation Defects Journal Article

In: J Clin Endocrinol Metab, vol. 107, no. 3, pp. e947–e954, 2022, ISSN: 1945-7197.

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2021

Cui, Quixia; Aksu, Cagri; Ay, Birol; Remillard, Claire E; Plagge, Antonius; Gardezi, Mina; Dunlap, Margaret; Gerstenfeld, Louis C; He, Qing; Bastepe, Murat

Maternal Contributes to the Extra-Large G Protein α-Subunit (XLαs) Expression in a Cell Type-Specific Manner Journal Article

In: Front Genet, vol. 12, pp. 680537, 2021, ISSN: 1664-8021.

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2020

Xie, Meng; Gol'din, Pavel; Herdina, Anna Nele; Estefa, Jordi; Medvedeva, Ekaterina V; Li, Lei; Newton, Phillip T; Kotova, Svetlana; Shavkuta, Boris; Saxena, Aditya; Shumate, Lauren T; Metscher, Brian D; Großschmidt, Karl; Nishimori, Shigeki; Akovantseva, Anastasia; Usanova, Anna P; Kurenkova, Anastasiia D; Kumar, Anoop; Arregui, Irene Linares; Tafforeau, Paul; Fried, Kaj; Carlström, Mattias; Simon, András; Gasser, Christian; Kronenberg, Henry M; Bastepe, Murat; Cooper, Kimberly L; Timashev, Peter; Sanchez, Sophie; Adameyko, Igor; Eriksson, Anders; Chagin, Andrei S

Secondary ossification center induces and protects growth plate structure Journal Article

In: Elife, vol. 9, 2020, ISSN: 2050-084X.

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Matthias, Julia; Cui, Qiuxia; Shumate, Lauren T; Plagge, Antonius; He, Qing; Bastepe, Murat

Extra-Large Gα Protein (XLαs) Deficiency Causes Severe Adenine-Induced Renal Injury with Massive FGF23 Elevation Journal Article

In: Endocrinology, vol. 161, no. 1, 2020, ISSN: 1945-7170.

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Mantovani, Giovanna; Bastepe, Murat; Monk, David; de Sanctis, Luisa; Thiele, Susanne; Ahmed, S Faisal; Bufo, Roberto; Choplin, Timothée; Filippo, Gianpaolo De; Devernois, Guillemette; Eggermann, Thomas; Elli, Francesca M; Ramirez, Aurora Garcia; Germain-Lee, Emily L; Groussin, Lionel; Hamdy, Neveen A T; Hanna, Patrick; Hiort, Olaf; Jüppner, Harald; Kamenický, Peter; Knight, Nina; Norcy, Elvire Le; Lecumberri, Beatriz; Levine, Michael A; Mäkitie, Outi; Martin, Regina; Martos-Moreno, Gabriel Ángel; Minagawa, Manasori; Murray, Philip; Pereda, Arrate; Pignolo, Robert; Rejnmark, Lars; Rodado, Rebeca; Rothenbuhler, Anya; Saraff, Vrinda; Shoemaker, Ashley H; Shore, Eileen M; Silve, Caroline; Turan, Serap; Woods, Philip; Zillikens, M Carola; de Nanclares, Guiomar Perez; Linglart, Agnès

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients Journal Article

In: Horm Res Paediatr, vol. 93, no. 3, pp. 182–196, 2020, ISSN: 1663-2826.

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2019

He, Qing; Shumate, Lauren T; Matthias, Julia; Aydin, Cumhur; Wein, Marc N; Spatz, Jordan M; Goetz, Regina; Mohammadi, Moosa; Plagge, Antonius; Pajevic, Paola Divieti; Bastepe, Murat

A G protein-coupled, IP3/protein kinase C pathway controlling the synthesis of phosphaturic hormone FGF23 Journal Article

In: JCI Insight, vol. 4, no. 17, 2019, ISSN: 2379-3708.

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Karaca, Anara; Reyes, Monica; Shumate, Lauren T; Taskaldiran, Isilay; Omma, Tulay; Gulcelik, Nese Ersoz; Bastepe, Murat

Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain Journal Article

In: Bone, vol. 123, pp. 153–158, 2019, ISSN: 1873-2763.

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2018

Bastepe, Murat

A Gain-of-Function CASR Mutation Causing Hypocalcemia in a Recessive Manner Journal Article

In: J Clin Endocrinol Metab, vol. 103, no. 9, pp. 3514–3515, 2018, ISSN: 1945-7197.

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Mantovani, Giovanna; Bastepe, Murat; Monk, David; de Sanctis, Luisa; Thiele, Susanne; Usardi, Alessia; Ahmed, S Faisal; Bufo, Roberto; Choplin, Timothée; Filippo, Gianpaolo De; Devernois, Guillemette; Eggermann, Thomas; Elli, Francesca M; Freson, Kathleen; Ramirez, Aurora García; Germain-Lee, Emily L; Groussin, Lionel; Hamdy, Neveen; Hanna, Patrick; Hiort, Olaf; Jüppner, Harald; Kamenický, Peter; Knight, Nina; Kottler, Marie-Laure; Norcy, Elvire Le; Lecumberri, Beatriz; Levine, Michael A; Mäkitie, Outi; Martin, Regina; Martos-Moreno, Gabriel Ángel; Minagawa, Masanori; Murray, Philip; Pereda, Arrate; Pignolo, Robert; Rejnmark, Lars; Rodado, Rebecca; Rothenbuhler, Anya; Saraff, Vrinda; Shoemaker, Ashley H; Shore, Eileen M; Silve, Caroline; Turan, Serap; Woods, Philip; Zillikens, M Carola; de Nanclares, Guiomar Perez; Linglart, Agnès

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement Journal Article

In: Nat Rev Endocrinol, vol. 14, no. 8, pp. 476–500, 2018, ISSN: 1759-5037.

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Karaca, Anara; Malladi, Vijayram Reddy; Zhu, Yan; Tafaj, Olta; Paltrinieri, Elena; Wu, Joy Y; He, Qing; Bastepe, Murat

Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth Journal Article

In: Bone, vol. 110, pp. 230–237, 2018, ISSN: 1873-2763.

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Bastepe, Murat

GNAS mutations and heterotopic ossification Journal Article

In: Bone, vol. 109, pp. 80–85, 2018, ISSN: 1873-2763.

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2017

He, Qing; Bouley, Richard; Liu, Zun; Wein, Marc N; Zhu, Yan; Spatz, Jordan M; Wang, Chia-Yu; Pajevic, Paola Divieti; Plagge, Antonius; Babitt, Jodie L; Bastepe, Murat

Large G protein α-subunit XLαs limits clathrin-mediated endocytosis and regulates tissue iron levels in vivo Journal Article

In: Proc Natl Acad Sci U S A, vol. 114, no. 45, pp. E9559–E9568, 2017, ISSN: 1091-6490.

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Reyes, Monica; Karaca, Anara; Bastepe, Murat; Gulcelik, Nese Ersoz; Jüppner, Harald

A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B Journal Article

In: Bone, vol. 103, pp. 281–286, 2017, ISSN: 1873-2763.

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Bastepe, Murat; Turan, Serap; He, Qing

Heterotrimeric G proteins in the control of parathyroid hormone actions Journal Article

In: J Mol Endocrinol, vol. 58, no. 4, pp. R203–R224, 2017, ISSN: 1479-6813.

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2016

Zhu, Yan; He, Qing; Aydin, Cumhur; Rubera, Isabelle; Tauc, Michel; Chen, Min; Weinstein, Lee S; Marshansky, Vladimir; Jüppner, Harald; Bastepe, Murat

Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D Journal Article

In: Endocrinology, vol. 157, no. 2, pp. 497–507, 2016, ISSN: 1945-7170.

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Wentworth, Kelly; Hsing, Alyssa; Urrutia, Ashley; Zhu, Yan; Horvai, Andrew E; Bastepe, Murat; Hsiao, Edward C

A Novel T55A Variant of Gs α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis Journal Article

In: Case Rep Endocrinol, vol. 2016, pp. 2691385, 2016, ISSN: 2090-6501.

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2015

Bastepe, Murat; Xin, Winnie

Huntington Disease: Molecular Diagnostics Approach Journal Article

In: Curr Protoc Hum Genet, vol. 87, pp. 9.26.1–9.26.23, 2015, ISSN: 1934-8258.

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He, Qing; Zhu, Yan; Corbin, Braden A; Plagge, Antonius; Bastepe, Murat

The G protein α subunit variant XLαs promotes inositol 1,4,5-trisphosphate signaling and mediates the renal actions of parathyroid hormone in vivo Journal Article

In: Sci Signal, vol. 8, no. 391, pp. ra84, 2015, ISSN: 1937-9145.

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Turan, Serap; Bastepe, Murat

GNAS Spectrum of Disorders Journal Article

In: Curr Osteoporos Rep, vol. 13, no. 3, pp. 146–158, 2015, ISSN: 1544-2241.

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Turan, Serap; Thiele, Susanne; Tafaj, Olta; Brix, Bettina; Atay, Zeynep; Abali, Saygin; Haliloglu, Belma; Bereket, Abdullah; Bastepe, Murat

Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS Journal Article

In: Bone, vol. 71, pp. 53–57, 2015, ISSN: 1873-2763.

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2014

Turan, Serap; Fernandez-Rebollo, Eduardo; Aydin, Cumhur; Zoto, Teuta; Reyes, Monica; Bounoutas, George; Chen, Min; Weinstein, Lee S; Erben, Reinhold G; Marshansky, Vladimir; Bastepe, Murat

Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption Journal Article

In: J Bone Miner Res, vol. 29, no. 3, pp. 749–760, 2014, ISSN: 1523-4681.

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2013

Bastepe, Murat

Genetics and epigenetics of parathyroid hormone resistance Journal Article

In: Endocr Dev, vol. 24, pp. 11–24, 2013, ISSN: 1662-2979.

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Turan, Serap; Bastepe, Murat

The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene Journal Article

In: Horm Res Paediatr, vol. 80, no. 4, pp. 229–241, 2013, ISSN: 1663-2826.

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Erickson, Catherine E; Gul, Rukhsana; Blessing, Christopher P; Nguyen, Jenny; Liu, Tammy; Pulakat, Lakshmi; Bastepe, Murat; Jackson, Edwin K; Andresen, Bradley T

The β-blocker Nebivolol Is a GRK/β-arrestin biased agonist Journal Article

In: PLoS One, vol. 8, no. 8, pp. e71980, 2013, ISSN: 1932-6203.

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2012

Turan, Serap; Ignatius, Jaakko; Moilanen, Jukka S; Kuismin, Outi; Stewart, Helen; Mann, Nicholas P; Linglart, Agnès; Bastepe, Murat; Jüppner, Harald

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases Journal Article

In: J Clin Endocrinol Metab, vol. 97, no. 12, pp. E2314–E2319, 2012, ISSN: 1945-7197.

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Bastepe, M

Relative functions of Gαs and its extra-large variant XLαs in the endocrine system Journal Article

In: Horm Metab Res, vol. 44, no. 10, pp. 732–740, 2012, ISSN: 1439-4286.

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Fernández-Rebollo, Eduardo; Maeda, Akira; Reyes, Monica; Turan, Serap; Fröhlich, Leopold F; Plagge, Antonius; Kelsey, Gavin; Jüppner, Harald; Bastepe, Murat

Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib Journal Article

In: Proc Natl Acad Sci U S A, vol. 109, no. 17, pp. 6638–6643, 2012, ISSN: 1091-6490.

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2011

Liu, Zun; Turan, Serap; Wehbi, Vanessa L; Vilardaga, Jean-Pierre; Bastepe, Murat

Extra-long Gαs variant XLαs protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling Journal Article

In: J Biol Chem, vol. 286, no. 44, pp. 38558–38569, 2011, ISSN: 1083-351X.

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Puzhko, Svetlana; Goodyer, Cynthia Gates; Kerachian, Mohammad Amin; Canaff, Lucie; Misra, Madhusmita; Jüppner, Harald; Bastepe, Murat; Hendy, Geoffrey N

Parathyroid hormone signaling via Gαs is selectively inhibited by an NH(2)-terminally truncated Gαs: implications for pseudohypoparathyroidism Journal Article

In: J Bone Miner Res, vol. 26, no. 10, pp. 2473–2485, 2011, ISSN: 1523-4681.

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Wu, Joy Y; Aarnisalo, Piia; Bastepe, Murat; Sinha, Partha; Fulzele, Keertik; Selig, Martin K; Chen, Min; Poulton, Ingrid J; Purton, Louise E; Sims, Natalie A; Weinstein, Lee S; Kronenberg, Henry M

Gsα enhances commitment of mesenchymal progenitors to the osteoblast lineage but restrains osteoblast differentiation in mice Journal Article

In: J Clin Invest, vol. 121, no. 9, pp. 3492–3504, 2011, ISSN: 1558-8238.

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Fernández-Rebollo, Eduardo; de Nanclares, Guiomar Pérez; Lecumberri, Beatriz; Turan, Serap; Anda, Emma; Pérez-Nanclares, Gustavo; Feig, Denice; Nik-Zainal, Serena; Bastepe, Murat; Jüppner, Harald

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib? Journal Article

In: J Bone Miner Res, vol. 26, no. 8, pp. 1854–1863, 2011, ISSN: 1523-4681.

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Thiele, Susanne; de Sanctis, Luisa; Werner, Ralf; Grötzinger, Joachim; Aydin, Cumhur; Jüppner, Harald; Bastepe, Murat; Hiort, Olaf

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction Journal Article

In: Hum Mutat, vol. 32, no. 6, pp. 653–660, 2011, ISSN: 1098-1004.

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Liu, Zun; Segawa, Hiroko; Aydin, Cumhur; Reyes, Monica; Erben, Reinhold G; Weinstein, Lee S; Chen, Min; Marshansky, Vladimir; Fröhlich, Leopold F; Bastepe, Murat

Transgenic overexpression of the extra-large Gsα variant XLαs enhances Gsα-mediated responses in the mouse renal proximal tubule in vivo Journal Article

In: Endocrinology, vol. 152, no. 4, pp. 1222–1233, 2011, ISSN: 1945-7170.

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Bastepe, Murat; Altug-Teber, Ozge; Agarwal, Chhavi; Oberfield, Sharon E; Bonin, Michael; Jüppner, Harald

Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib) Journal Article

In: Bone, vol. 48, no. 3, pp. 659–662, 2011, ISSN: 1873-2763.

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Sbrocchi, Anne Marie; Rauch, Frank; Lawson, Margaret L; Hadjiyannakis, Stasia; Lawrence, Sarah; Bastepe, Murat; Jüppner, Harald; Ward, Leanne Marie

Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis Journal Article

In: Eur J Endocrinol, vol. 164, no. 2, pp. 295–301, 2011, ISSN: 1479-683X.

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Mariot, Virginie; Wu, Joy Y; Aydin, Cumhur; Mantovani, Giovanna; Mahon, Matthew J; Linglart, Agnès; Bastepe, Murat

Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone Journal Article

In: Bone, vol. 48, no. 2, pp. 312–320, 2011, ISSN: 1873-2763.

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2010

Mäkitie, Outi; Pereira, Renata C; Kaitila, Ilkka; Turan, Serap; Bastepe, Murat; Laine, Tero; Kröger, Heikki; Cole, William G; Jüppner, Harald

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation Journal Article

In: J Bone Miner Res, vol. 25, no. 10, pp. 2165–2174, 2010, ISSN: 1523-4681.

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Turan, Serap; Akin, Leyla; Akcay, Teoman; Adal, Erdal; Sarikaya, Sevil; Bastepe, Murat; Jüppner, Harald

Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib Journal Article

In: Eur J Endocrinol, vol. 163, no. 3, pp. 489–493, 2010, ISSN: 1479-683X.

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Chillambhi, Smitha; Turan, Serap; Hwang, Daw-Yang; Chen, Hung-Chun; Jüppner, Harald; Bastepe, Murat

Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis Journal Article

In: J Clin Endocrinol Metab, vol. 95, no. 8, pp. 3993–4002, 2010, ISSN: 1945-7197.

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Fröhlich, Leopold F; Mrakovcic, Maria; Steinborn, Ralf; Chung, Ung-Il; Bastepe, Murat; Jüppner, Harald

Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib Journal Article

In: Proc Natl Acad Sci U S A, vol. 107, no. 20, pp. 9275–9280, 2010, ISSN: 1091-6490.

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Lecumberri, B; Fernández-Rebollo, E; Sentchordi, L; Saavedra, P; Bernal-Chico, A; Pallardo, L F; Bustos, J M Jiménez; Castaño, L; de Santiago, M; Hiort, O; de Nanclares, G Pérez; Bastepe, M

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects Journal Article

In: J Med Genet, vol. 47, no. 4, pp. 276–280, 2010, ISSN: 1468-6244.

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Turan, Serap; Aydin, Cumhur; Bereket, Abdullah; Akcay, Teoman; Güran, Tülay; Yaralioglu, Betul Akmen; Bastepe, Murat; Jüppner, Harald

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia Journal Article

In: Bone, vol. 46, no. 2, pp. 402–409, 2010, ISSN: 1873-2763.

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Fernandez-Rebollo, Eduardo; García-Cuartero, Beatriz; Garin, Intza; Largo, Cristina; Martínez, Francisco; Garcia-Lacalle, Concepcion; Castaño, Luis; Bastepe, Murat; de Nanclares, Guiomar Pérez

Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B Journal Article

In: J Clin Endocrinol Metab, vol. 95, no. 2, pp. 765–771, 2010, ISSN: 1945-7197.

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96 entries « 1 of 2 »