Works matching DE "PSEUDOHYPOPARATHYROIDISM"

Results: 150

Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 6, p. 975, doi. 10.1007/s10815-018-1129-1

By:

Goel, Nicholas J.;
Meyers, Laura L.;
Frangos, Myrto

Publication type:

Article

Role of DNA methylation in imprinting disorders: an updated review.

Published in:

Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 5, p. 549, doi. 10.1007/s10815-017-0895-5

By:

Elhamamsy, Amr

Publication type:

Article

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.

Published in:

Journal of the Endocrine Society, 2019, v. 3, n. 7, p. 1383, doi. 10.1210/js.2019-00073

By:

Munteanu, Martin;
Kiewert, Cordula;
Matar, Nora;
Hauffa, Berthold P;
Unger, Nicole;
Hiort, Olaf;
Thiele, Susanne;
Buiting, Karin;
Bramswig, Nuria C;
Grasemann, Corinna

Publication type:

Article

Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a.

Published in:

2018

By:

Moutinho, Adelaide;
Carvalho, Rosa;
Ferreira Reis, Rita;
Tavares, Sandra

Publication type:

Case Study

A Novel T55A Variant of G<sub>s</sub>α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.

Published in:

Case Reports in Endocrinology, 2016, p. 1, doi. 10.1155/2016/2691385

By:

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

Publication type:

Article

Linear skin atrophy preceding calcinosis cutis in pseudo-pseudohypoparathyroidism.

Published in:

Clinical & Experimental Dermatology, 2012, v. 37, n. 6, p. 646, doi. 10.1111/j.1365-2230.2011.04292.x

By:

Lau, K.;
Willig, R. P.;
Hiort, O.;
Hoeger, P. H.

Publication type:

Article

A case of pseudohypoparathyroidism type 1a complicated with growth hormone deficiency: recovery of growth hormone secretion after vitamin D therapy.

Published in:

European Journal of Pediatrics, 2001, v. 160, n. 11, p. 679, doi. 10.1007/s004310100837

By:

Kaji, Masayuki;
Umeda, Katsutsugu;
Ashida, Mika;
Tajima, Toshihiro

Publication type:

Article

Parathyroid Reimplantation in Forearm Subcutaneous Tissue During Thyroidectomy: A Simple and Effective Way to Avoid Hypoparathyroidism.

Published in:

World Journal of Surgery, 2015, v. 39, n. 8, p. 1936, doi. 10.1007/s00268-015-3070-0

By:

Cavallaro, Giuseppe;
Iorio, Olga;
Centanni, Marco;
Porta, Natale;
Iossa, Angelo;
Gargano, Lucilla;
Duca, Susanna;
Gurrado, Angela;
Testini, Mario;
Petrozza, Vincenzo;
Silecchia, Gianfranco

Publication type:

Article

Pseudohypoparathyroidism: a series of three cases and an unusual presentation of ocular tetany.

Published in:

Anaesthesia, 2006, v. 61, n. 4, p. 394, doi. 10.1111/j.1365-2044.2006.04543.x

By:

Sunder, R. A.;
Singh, M.

Publication type:

Article

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1363, doi. 10.1038/ng.3410

By:

Foulds, Nicola;
Akawi, Nadia;
McRae, Jeremy;
Clayton, Stephen;
Fitzgerald, Tomas W;
Gerety, Sebastian S;
Jones, Wendy D;
King, Daniel;
Lelliott, Chris;
Lord, Jenny;
Piombo, Virginia;
Prigmore, Elena;
Rajan, Diana;
Sifrim, Alejandro;
Swaminathan, Ganesh J;
Wright, Caroline F;
Barrett, Jeffrey C;
Hurles, Matthew E;
Joss, Shelagh;
O'Regan, Mary

Publication type:

Article

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.

Published in:

Nature Genetics, 2005, v. 37, n. 1, p. 25, doi. 10.1038/ng1487

By:

Bastepe, Murat;
Fröhlich, Leopold F.;
Linglart, Agnès;
Abu-Zahra, Hilal S.;
Tojo, Katsuyoshi;
Ward, Leanne M.;
Jüppner, Harald

Publication type:

Article

Familial pseudohypoparathyroidism presenting in adult life.

Published in:

Journal of the Royal Society of Medicine, 1980, v. 73, n. 10, p. 724, doi. 10.1177/014107688007301007

By:

Hamilton, D. V.

Publication type:

Article

Spastic tetraparesis in a patient with pseudo-pseudohypoparathyroidism.

Published in:

Journal of Neurology, 2002, v. 249, n. 10, p. 1457, doi. 10.1007/s00415-002-0822-1

By:

Iwase, Tamaki;
Nokura, Kazuya;
Mizuno, Tomoyuki;
Inagaki, Toshiaki

Publication type:

Article

2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.

Published in:

Cytogenetic & Genome Research, 2015, v. 146, n. 1, p. 33, doi. 10.1159/000431389

By:

Mehraein, Yasmin;
Pfob, Martina;
Steinlein, Ortrud;
aichinger, Eric;
Eggert, Marlene;
Bubendorff, Valerie;
Mannhart, adelina;
Müller, Stefan

Publication type:

Article

Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.

Published in:

Gynecological Endocrinology, 2014, v. 30, n. 10, p. 694, doi. 10.3109/09513590.2014.929654

By:

Zeng, Wen-Heng;
Xu, Jiao-Jun;
Jia, Min-Yue;
Ren, Yue-Zhong

Publication type:

Article

Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.

Published in:

2018

By:

Garcia, Catarina;
Correia, Cátia R.;
Lopes, Lurdes

Publication type:

Case Study

Pseudohypoparathyroidism and Pseudo-pseudohypoparathyroidism.

Published in:: British Journal of Dermatology, 1974, v. 91, n. 6, p. 711, doi. 10.1111/1365-2133.ep17028712
Publication type:: Article

A Family with Congenital Hypothyroidism Caused by a Combination of Loss-of-Function Mutations in the Thyrotropin Receptor and Adenylate Cyclase-Stimulating G Alpha-Protein Subunit Genes.

Published in:

Thyroid, 2011, v. 21, n. 2, p. 103, doi. 10.1089/thy.2010.0187

By:

Joaquin Lado-Abeal;
Isabel Castro-Piedras;
Fernando Palos-Paz;
Jose Ignacio Labarta-Aizpún;
Ramon Albero-Gamboa

Publication type:

Article

Albright's hereditary osteodystrophy in conjunction with growth hormone deficiency and adrenal insufficiency.

Published in:

Journal of Dialog in Endocrinology / Endokrinolide Diyalog Dergisi, 2011, v. 8, n. 3, p. 138

By:

Tarçın, Özlem;
Yazıcı, Dilek;
Deyneli, Oğuzhan;
Hünük, Burak;
Sancak, Seda;
Aydın, Hasan;
Yavuz, Dilek;
Akalın, Sema

Publication type:

Article

Albright's Hereditary Osteodystrophy Comprising Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism.

Published in:

Annals of Internal Medicine, 1962, v. 56, n. 2, p. 315, doi. 10.7326/0003-4819-56-2-315

By:

Mann, Joel B.;
Alterman, Seymour;
Hills, A. Gorman

Publication type:

Article

Pseudohypoparathyroidism.

Published in:

Annals of Internal Medicine, 1962, v. 56, n. 2, p. 282, doi. 10.7326/0003-4819-56-2-282

By:

Surks, Martin I.;
Levenson, David

Publication type:

Article

Pseudohypoparathyroidism and Hypothyroidism.

Published in:

Annals of Internal Medicine, 1962, v. 56, n. 2, p. 276, doi. 10.7326/0003-4819-56-2-276

By:

Turner, Raymond W.;
Takamura, Tsugiso

Publication type:

Article

A Case Report of Basal Ganglia Calcification - A Rare Finding of Hypoparathyroidism.

Published in:

2009

By:

Basak, Ramen C.

Publication type:

Case Study

Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus.

Published in:

PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117691

By:

Perez-Nanclares, Gustavo;
Velayos, Teresa;
Vela, Amaya;
Muñoz-Torres, Manuel;
Castaño, Luis

Publication type:

Article

Mutations in Pseudohypoparathyroidism 1a and Pseudopseudohypoparathyroidism in Ethnic Chinese.

Published in:

PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090640

By:

Wu, Yi-Lei;
Hwang, Daw-Yang;
Hsiao, Hui-Pin;
Ting, Wei-Hsin;
Huang, Chi-Yu;
Tsai, Wen-Yu;
Chen, Hung-Chun;
Chao, Mei-Chyn;
Lo, Fu-Sung;
Tsai, Jeng-Daw;
Yang, Stone;
Shih, Shin-Lin;
Lin, Shuan-Pei;
Lin, Chiung-Ling;
Lee, Yann-Jinn

Publication type:

Article

Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction.

Published in:

PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038579

By:

Izzi, Benedetta;
Francois, Inge;
Labarque, Veerle;
Thys, Chantal;
Wittevrongel, Christine;
Devriendt, Koen;
Legius, Eric;
Van den Bruel, Annick;
D'Hooghe, Marc;
Lambrechts, Diether;
De Zegher, Francis;
Van Geet, Chris;
Freson, Kathleen

Publication type:

Article

Hereditary Osteodystrophy with Multiple Hormone Resistance--A Case Report.

Published in:

2009

By:

Velez, Ines;
Bond, Melanie;
Ellen, Steven;
Ede-Nichols, Diane;
Larumbe, Jose;
Oramas, Victor;
Arnold, Daniel

Publication type:

Case Study

Incidence of juvenile osteodystrophy in hand-reared grey parrots (Psittacus e erithacus).

Published in:

Veterinary Record: Journal of the British Veterinary Association, 2003, v. 152, n. 14, p. 438, doi. 10.1136/vr.152.14.438

By:

Harcourt-Brown, N.

Publication type:

Article

A review of known imprinting syndromes and their association with assisted reproduction technologies.

Published in:

Human Reproduction, 2008, v. 23, n. 12, p. 2826, doi. 10.1093/humrep/den310

By:

David J. Amor;
Jane Halliday

Publication type:

Article

PSEUDOHYPOPARATHYROIDISM.

Published in:

Australasian Journal of Dermatology, 1960, v. 5, n. 3, p. 167, doi. 10.1111/j.1440-0960.1960.tb01586.x

By:

Nothling, O. E.

Publication type:

Article

Health‐related quality of life in patients with nonsurgical hypoparathyroidism and pseudohypoparathyroidism.

Published in:

Clinical Endocrinology, 2018, v. 88, n. 6, p. 838, doi. 10.1111/cen.13593

By:

Underbjerg, L.;
Sikjaer, T.;
Rejnmark, L.

Publication type:

Article

Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.

Published in:

Clinical Endocrinology, 2018, v. 88, n. 2, p. 285, doi. 10.1111/cen.13516

By:

Chu, Xueying;
Zhu, Yan;
Wang, Ou;
Nie, Min;
Quan, Tingting;
Xue, Yu;
Wang, Wenbo;
Jiang, Yan;
Li, Mei;
Xia, Weibo;
Xing, Xiaoping

Publication type:

Article

Pseudohypoparathyroidism - epidemiology, mortality and risk of complications.

Published in:

Clinical Endocrinology, 2016, v. 84, n. 6, p. 904, doi. 10.1111/cen.12948

By:

Underbjerg, Line;
Sikjaer, Tanja;
Mosekilde, Leif;
Rejnmark, Lars

Publication type:

Article

Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene.

Published in:

Clinical Endocrinology, 2016, v. 84, n. 3, p. 463, doi. 10.1111/cen.12953

By:

Lemos, Manuel C.;
Christie, Paul T.;
Rodrigues, Dírcea;
Thakker, Rajesh V.

Publication type:

Article

Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.

Published in:

Clinical Endocrinology, 2011, v. 75, n. 2, p. 207, doi. 10.1111/j.1365-2265.2011.04026.x

By:

Hye Young Jin;
Beom Hee Lee;
Jin-Ho Choi;
Gu-Hwan Kim;
Jin-Kyung Kim;
Jung Hyun Lee;
Jeesuk Yu;
Jae-Ho Yoo;
Cheol Woo Ko;
Han-Hyuk Lim;
Hye Rim Chung;
Han-Wook Yoo

Publication type:

Article

New mutation type in pseudohypoparathyroidism type Ia.

Published in:

Clinical Endocrinology, 2008, v. 69, n. 5, p. 705, doi. 10.1111/j.1365-2265.2008.03255.x

By:

Fernandez-Rebollo, Eduardo;
Barrio, Raquel;
Pérez-Nanclares, Gustavo;
Carcavilla, Atilano;
Garin, Intza;
Castaño, Luis;
de Nanclares, Guiomar Pérez

Publication type:

Article

Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsα.

Published in:

Clinical Endocrinology, 2008, v. 68, n. 2, p. 233, doi. 10.1111/j.1365-2265.2007.03025.x

By:

Mouallem, M.;
Shaharabany, M.;
Weintrob, N.;
Shalitin, S.;
Nagelberg, N.;
Shapira, H.;
Zadik, Z.;
Farfel, Z.

Publication type:

Article

Subcutaneous Nodules and Stubby Hands.

Published in:

Pediatric Dermatology, 2016, v. 33, n. 6, p. 675, doi. 10.1111/pde.13005

By:

Vide, Júlia;
Nogueira, Ana;
Azevedo, Filomena

Publication type:

Article

Albright Hereditary Osteodystrophy.

Published in:

Pediatric Dermatology, 2011, v. 28, n. 2, p. 135, doi. 10.1111/j.1525-1470.2010.01226.x

By:

Stieler, Karola;
Schnabel, Dirk;
Atugoda, Saman;
Sterry, Wolfram;
Blume-Peytavi, Ulrike

Publication type:

Article

Two mutations of the Gsα gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 7, p. 426, doi. 10.1007/s100380170062

By:

Ishikawa, Y.;
Tajima, T.;
Nakae, J.;
Nagashima, T.;
Satoh, K.;
Okuhara, K.;
Fujieda, K.

Publication type:

Article

Stage I Vitamin D-Deficiency Rickets Mimicking Pseudohypoparathydroidism Type II.

Published in:

Clinical Pediatrics, 2002, v. 41, n. 4, p. 263, doi. 10.1177/000992280204100411

By:

Srivastava, Tarak;
Alon, Uri S.

Publication type:

Article

Visual disturbances as a presenting feature of pseudohypoparathyroidism.

Published in:

Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. S1, p. S219, doi. 10.4103/2230-8210.119577

By:

Maheshwari, Rushikesh;
Rani, Radha P.;
Prasad, Rajendra N.;
Reddy, Karthik T. S.;
Reddy, Amaresh P.

Publication type:

Article

All Madelung deformities are not endocrine.

Published in:

Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. S1, p. S231, doi. 10.4103/2230-8210.119581

By:

Kumar, Ajay;
Rai, Gopal K.;
Akhtar, Javed;
Phillip, Rajeev;
Gutch, Manish;
Arya, T. V. S.

Publication type:

Article

Short fourth and fifth metacarpals in a case of idiopathic primary hypoparathyroidism.

Published in:

2013

By:

Valizadeh, Neda;
Mehdizadeh, Alireza;
Nazarbaghi, Surena

Publication type:

Case Study

Plurihormone secreting pituitary macroadenoma masquerading as thyrotoxicosis: Clinical presentation and diagnostic challenges.

Published in:

Indian Journal of Endocrinology & Metabolism, 2012, v. 16, p. S315, doi. 10.4103/2230-8210.104073

By:

Maisnam, Indira;
Dutta, Deep;
Jain, Rajesh;
Ghosh, Sujoy;
Mukhopadhyay, Satinath;
Chowdhury, Subhankar

Publication type:

Article

A case report of defective endogenous vitamin D: a new clinical entity.

Published in:

2014

By:

Alavala, Aswani;
Yassine, Hussein;
Szerlip, Harold M.

Publication type:

Case Study

Pseudohypoparathyroidism: A Case Report of a Rare Disease with Uncommon Presentation Producing Diagnostic Dilemma.

Published in:

2011

By:

UDDIN, M. Z.;
HOWLADER, M. A. R.;
AMIN, M. R.;
MORSHED, M. G.

Publication type:

Case Study

Multiple Osteoma Cutis of the Wrist and Hand.

Published in:

2018

By:

SHARMA, PALLAVI;
DEVDHAR, SARITA;
PANDEY, DEVRESHI KUMAR;
GIRI, SUMIT;
SHARMA, DUSHYANT

Publication type:

Case Study

Albright Hereditary Osteodystrophy: A Case Report.

Published in:

2014

By:

HUGAR, DEEPA;
SAJJANSHETTY, SANGAMESHWAR;
HUGAR, SANTOSH;
KADANI, MEGHA

Publication type:

Case Study

Pseudohypoparathyroidism.

Published in:

2014

By:

JOOB, BEUY;
WIWANITKIT, VIROJ

Publication type:

Letter to the Editor