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	1.	De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. [electronic resource] by Turan, Serap Ignatius, Jaakko Moilanen, Jukka S Kuismin, Outi Stewart, Helen Mann, Nicholas P Linglart, Agnès Bastepe, Murat Jüppner, Harald Producer: 20130212 In: The Journal of clinical endocrinology and metabolism vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. [electronic resource] by Elli, Francesca M de Sanctis, Luisa Peverelli, Erika Bordogna, Paolo Pivetta, Barbara Miolo, Gianmaria Beck-Peccoz, Paolo Spada, Anna Mantovani, Giovanna Producer: 20140603 In: The Journal of clinical endocrinology and metabolism vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A novel long-range deletion spanning STX16 and NPEPL1 causing imprinting defects of the GNAS locus discovered in a patient with autosomal-dominant pseudohypoparathyroidism type 1B. [electronic resource] by Yang, Yi Chu, Xueying Nie, Min Song, An Jiang, Yan Li, Mei Xia, Weibo Xing, Xiaoping Wang, Ou Producer: 20210621 In: Endocrine vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib. [electronic resource] by Cavaco, Branca Maria Tomaz, Rute Alexandra Fonseca, Fernando Mascarenhas, Mário Rui Leite, Valeriano Sobrinho, Luís Gonçalves Producer: 20110324 In: Endocrine vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Syntaxin 16: unraveling cellular physiology through a ubiquitous SNARE molecule. [electronic resource] by Chen, Yanan Gan, Bin Qi Tang, Bor Luen Producer: 20101007 In: Journal of cellular physiology vol. 225 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Syntaxin 16 and syntaxin 5 are required for efficient retrograde transport of several exogenous and endogenous cargo proteins. [electronic resource] by Amessou, Mohamed Fradagrada, Alexandre Falguières, Thomas Lord, J Michael Smith, Daniel C Roberts, Lynne M Lamaze, Christophe Johannes, Ludger Producer: 20070628 In: Journal of cell science vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	GNAS -Related Loss-of-Function Disorders and the Role of Imprinting. [electronic resource] by Linglart, Agnès Maupetit-Méhouas, Stéphanie Silve, Caroline Producer: 20160608 In: Hormone research in paediatrics vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib). [electronic resource] by Molinaro, Angelo Tiosano, Dov Takatani, Rieko Chrysis, Dionisios Russell, William Koscielniak, Nikolas Kottler, Marie-Laure Agretti, Patrizia De Marco, Giuseppina Ahtiainen, Petteri Christov, Marta Mäkitie, Outi Tonacchera, Massimo Jüppner, Harald Producer: 20160314 In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	[STX16 deletion associated to pseudohypoparathyroidism]. [electronic resource] by Roca-Rodríguez, María Del Mar Cornejo-Pareja, Isabel Mancha-Doblas, Isabel Tinahones, Francisco J Producer: 20161223 In: Medicina clinica vol. 146 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). [electronic resource] by Grigelioniene, Giedre Nevalainen, Pasi I Reyes, Monica Thiele, Susanne Tafaj, Olta Molinaro, Angelo Takatani, Rieko Ala-Houhala, Marja Nilsson, Daniel Eisfeldt, Jesper Lindstrand, Anna Kottler, Marie-Laure Mäkitie, Outi Jüppner, Harald Producer: 20170728 In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Drosophila SNAP-29 is an essential SNARE that binds multiple proteins involved in membrane traffic. [electronic resource] by Xu, Hao Mohtashami, Mahmood Stewart, Bryan Boulianne, Gabrielle Trimble, William S Producer: 20160129 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. [electronic resource] by Sano, Shinichiro Iwata, Hiromi Matsubara, Keiko Fukami, Maki Kagami, Masayo Ogata, Tsutomu Producer: 20160330 In: Endocrine journal vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	The SM protein Car/Vps33A regulates SNARE-mediated trafficking to lysosomes and lysosome-related organelles. [electronic resource] by Akbar, Mohammed A Ray, Sanchali Krämer, Helmut Producer: 20090522 In: Molecular biology of the cell vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Identification of different itineraries and retromer components for endosome-to-Golgi transport of TGN38 and Shiga toxin. [electronic resource] by Lieu, Zi Zhao Gleeson, Paul A Producer: 20100623 In: European journal of cell biology vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion. [electronic resource] by de Lange, Iris M Verrijn Stuart, Annemarie A van der Luijt, Rob B Ploos van Amstel, Hans Kristian van Haelst, Mieke M Producer: 20171019 In: American journal of medical genetics. Part A vol. 170 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. [electronic resource] by Mantovani, Giovanna de Sanctis, Luisa Barbieri, Anna Maria Elli, Francesca M Bollati, Valentina Vaira, Valentina Labarile, Pamela Bondioni, Sara Peverelli, Erika Lania, Andrea G Beck-Peccoz, Paolo Spada, Anna Producer: 20100302 In: The Journal of clinical endocrinology and metabolism vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. [electronic resource] by Linglart, Agnès Gensure, Robert C Olney, Robert C Jüppner, Harald Bastepe, Murat Producer: 20050616 In: American journal of human genetics vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth. [electronic resource] by Bréhin, Anne-Claire Colson, Cindy Maupetit-Méhouas, Stéphanie Grybek, Virginie Richard, Nicolas Linglart, Agnès Kottler, Marie-Laure Jüppner, Harald Producer: 20150806 In: The Journal of clinical endocrinology and metabolism vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion. [electronic resource] by Takatani, Rieko Molinaro, Angelo Grigelioniene, Giedre Tafaj, Olta Watanabe, Tomoyuki Reyes, Monica Sharma, Amita Singhal, Vibha Raymond, F Lucy Linglart, Agnès Jüppner, Harald Producer: 20161219 In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Quantitative proteomic analysis of the adipocyte plasma membrane. [electronic resource] by Prior, Matthew J Larance, Mark Lawrence, Robert T Soul, Jamie Humphrey, Sean Burchfield, James Kistler, Carol Davey, Jonathon R La-Borde, Penelope J Buckley, Michael Kanazawa, Hiroshi Parton, Robert G Guilhaus, Michael James, David E Producer: 20120305 In: Journal of proteome research vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 62 results.