Works about PSEUDOHYPOPARATHYROIDISM

Results: 150

Seizures and subcutaneous calcifications.

Published in:

Postgraduate Medicine, 2003, v. 114, n. 5, p. 67

By:

Mishriki, Yehia Y.

Publication type:

Article

Unusual long bone and metacarpo-carpal abnormalities in a case of pseudo-pseudohypoparathyroidism.

Published in:

2007

By:

Unlu, Zeliha;
Orguc, Sebnem;
Yilmaz Ovali, Gulgun;
Bayindir, Petek

Publication type:

Report

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

Albright hereditary osteodystrophy: dental management case report.

Published in:

RGO: Revista Gaúcha de Odontologia, 2018, v. 66, n. 1, p. 106, doi. 10.1590/1981-863720180001000153289

By:

Anagnostopoulos FRIEDRICH, Stephanie;
RODRIGUES, Jonas;
Barbachan e. SILVA, Berenice

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

Pseudohypoparathyroidism type 1a.

Published in:

2018

By:

Singla, M;
Garg, G;
Gupta, A

Publication type:

Case Study

Knuckle–dimple sign.

Published in:

QJM: An International Journal of Medicine, 2013, v. 106, n. 1, p. 83, doi. 10.1093/qjmed/hcr220

By:

Nagarajan, Vijaiganesh;
Sharma, Priyanka

Publication type:

Article

Coexistence of Glucocorticoid Resistance and Pseudohypoparathyroidism.

Published in:

West Indian Medical Journal, 2012, v. 61, n. 9, p. 928, doi. 10.7727/wimj.2012.056

By:

Krysiak, R.;
Kędzia, A.;
Okopień, B.

Publication type:

Article

Spinal Stenosis with Paraparesis in Albright Hereditary Osteodystrophy.

Published in:

Pediatric Neurosurgery, 2008, v. 44, n. 4, p. 337, doi. 10.1159/000138373

By:

Lindert, Erik J. van;
Bartels, Ronald H.M.A.;
Noordam, Kees

Publication type:

Article

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

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

Case Report of a Satin Guinea Pig with Fibrous Osteodystrophy That Resembles Human Pseudohypoparathyroidism.

Published in:

2017

By:

Gallego, Miguel

Publication type:

Case Study

Identification of a Novel Mutation in a Pseudohypoparathyroidism Family.

Published in:

International Journal of Endocrinology, 2011, p. 1, doi. 10.1155/2011/509549

By:

Zhi-Min Miao;
Can Wang;
Bin-Bin Wang;
Dong-Mei Meng;
Dong-Mei Su;
Zhi Cheng;
Qiao-Lian Wen;
Lin Han;
Qing Yu;
Xu Ma;
Chang-Gui Li

Publication type:

Article

Ectopic Calcification as Discernible Manifestation in Neonates with Pseudohypoparathyroidism Type 1a.

Published in:

International Journal of Endocrinology, 2009, p. 1, doi. 10.1155/2009/931057

By:

Adachi, Masanori;
Muroya, Koji;
Asakura, Yumi;
Kondoh, Yoichi;
Ishihara, Jun;
Hasegawa, Tomonobu

Publication type:

Article

Myhre syndrome.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 503, doi. 10.1111/cge.12365

By:

Le Goff, C.;
Michot, C.;
Cormier‐Daire, V.

Publication type:

Article

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 494, doi. 10.1038/ejhg.2014.133

By:

Rezwan, Faisal I;
Poole, Rebecca L;
Prescott, Trine;
Walker, Joanna M;
Karen Temple, I;
Mackay, Deborah JG

Publication type:

Article

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 560, doi. 10.1038/ejhg.2015.40

By:

Garin, Intza;
Mantovani, Giovanna;
Aguirre, Urko;
Barlier, Anne;
Brix, Bettina;
Elli, Francesca M;
Freson, Kathleen;
Grybek, Virginie;
Izzi, Benedetta;
Linglart, Agne's;
de Nanclares, Guiomar Perez;
Silve, Caroline;
Thiele, Susanne;
Werner, Ralf

Publication type:

Article

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 438, doi. 10.1038/ejhg.2014.127

By:

Garin, Intza;
Mantovani, Giovanna;
Aguirre, Urko;
Barlier, Anne;
Brix, Bettina;
Elli, Francesca M;
Freson, Kathleen;
Grybek, Virginie;
Izzi, Benedetta;
Linglart, Agnès;
Perez de Nanclares, Guiomar;
Silve, Caroline;
Thiele, Susanne;
Werner, Ralf

Publication type:

Article

Clinical utility gene card for: Pseudohypoparathyroidism.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.211

By:

Mantovani, Giovanna;
Linglart, Agnes;
Garin, Intza;
Silve, Caroline;
Elli, Francesca M;
de Nanclares, Guiomar Perez

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

A conversation with Jean Wilson.

Published in:

2012

By:

Neill, Ushma S.

Publication type:

Interview

Pediatric Radiology Continuing Medical Education Activity.

Published in:: 2016
Publication type:: journal 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

Management of pseudohypoparathyroidism in pregnancy: a case report.

Published in:

2017

By:

Guedes Ramallo, Paula;
Boix Carreño, Evangelina

Publication type:

journal 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

Pseudohypoparathyroidism — another monogenic obesity syndrome.

Published in:

Clinical Endocrinology, 2000, v. 52, n. 3, p. 389, doi. 10.1046/j.1365-2265.2000.00911.x

By:

Ong, Ken K. L.;
Amin, Rakesh;
Dunger, David B.

Publication type:

Article

GNAS1 mutational analysis in pseudohypoparathyroidism.

Published in:

Clinical Endocrinology, 1998, v. 49, n. 4

By:

Ahmed;
Dixon;
Bonthron;
Stirling;
Barr;
Kelnar;
Thakker

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

Ain't No Sunshine When She's Gone: Pseudohypoparathyroidism Discovered in an Adult.

Published in:

Case Reports in Endocrinology, 2012, p. 1, doi. 10.1155/2012/739375

By:

van Rooijen, C. R.;
Kok, M. B.;
Simsek, S.;
Stam, F.

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

Hypocalcaemic Stridor in Children How Often is it Missed?

Published in:

Clinical Pediatrics, 1991, v. 30, n. 1, p. 51, doi. 10.1177/000992289103000108

By:

Sharief, N.;
Matthew, D. J.;
Dillon, M. J.

Publication type:

Article

Vitamin D<sub>2</sub> Therapy of Pseudohypoparathyroidism.

Published in:

Clinical Pediatrics, 1986, v. 25, n. 1, p. 49, doi. 10.1177/000992288602500110

By:

Mimouni, Francis;
Neumann, Victoria A.;
Tsang, Reginald C.;
Hollis, Bruce W.

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

Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a.

Published in:

Hormone Research in Paediatrics, 2015, v. 84, n. 1, p. 1, doi. 10.1159/000381452

By:

Landreth, Hannah;
Malow, Beth a.;
Shoemaker, ashley H.

Publication type:

Article

Diagnosis and Management of Congenital Hypothyroidism Associated with Pseudohypoparathyroidism.

Published in:

Hormone Research in Paediatrics, 2015, v. 83, n. 2, p. 111, doi. 10.1159/000369492

By:

Picard, Charlotte;
Decrequy, anne;
Guenet, David;
Bursztejn, anne Claire;
Toledano, Daniel;
Richard, Nicolas;
Kottler, Marie-Laure

Publication type:

Article

Guanine Nucleotide-Binding Protein α Subunit Hypofunction in Children with Short Stature and Disproportionate Shortening of the 4th and 5th Metacarpals.

Published in:

Hormone Research in Paediatrics, 2014, v. 81, n. 3, p. 196, doi. 10.1159/000356928

By:

Inta, Ioana Monica;
Choukair, Daniela;
Bender, Sebastian;
Kneppo, Carolin;
Knauer-Fischer, Sabine;
Meyenburg, Kahina;
Ivandic, Boris;
Pfister, Stefan M.;
Bettendorf, Markus

Publication type:

Article

The GNAS Complex Locus and Human Diseases Associated with Loss-of-Function Mutations or Epimutations within This Imprinted Gene.

Published in:

Hormone Research in Paediatrics, 2013, v. 80, n. 4, p. 229, doi. 10.1159/000355384

By:

Turan, Serap;
Bastepe, Murat

Publication type:

Article

GNAS-Related Loss-of-Function Disorders and the Role of Imprinting.

Published in:

Hormone Research in Paediatrics, 2013, v. 79, n. 3, p. 119, doi. 10.1159/000348516

By:

Linglart, agnès;
Maupetit-Méhouas, Stéphanie;
Silve, Caroline

Publication type:

Article

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

Pseudohypoparathyroidism, Rare Cause of Hypocalcaemia!

Published in:

Journal of Clinical & Diagnostic Research, 2013, v. 7, n. 10, p. 2288, doi. 10.7860/JCDR/2013/5845.3499

By:

DOSI, RUPAL V.;
AMBALIYA, ANNIRUDH P.;
JOSHI, HARSHAL K.;
PATELL, RUSHAD D.

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