Works matching DE "PSEUDO-pseudohypoparathyroidism"

Results: 94

Late-Onset Subcutaneous Scalp Calcifications in a Patient with Pseudo-Pseudohypoparathyroidism.

Published in:

2014

By:

Ramos, Laura;
Piedra, María;
Sánchez, Elena;
Amado, José

Publication type:

Report

Alcoholic liver disease: common clinical syndromes.

Published in:

Journal of Clinical Hepatology / Linchuang Gandanbing Zazhi, 2014, v. 30, n. 2, p. 121, doi. 10.3969/j.issn.1001-5256.2014.02.006

By:

ZHANG Dai;
WANG Bingyuan

Publication type:

Article

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

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

Progressive osseous heteroplasia (POH): an Egyptian patient.

Published in:

2010

By:

El Sobky, Ezzat;
El Sayed, Solaf M.

Publication type:

Case Study

Case of pseudo-pseudohypoparathyroidism associated with juvenile dementia.

Published in:

2005

By:

MAEDA, KAZUHISA;
SHIRAYAMA, YUKIHIKO;
NAGAMI, TAKEFUSA;
YOSHIOKA, SHINICHI;
KAWAHARA, RYUZO

Publication type:

Letter

Hereditary osteoma cutis.

Published in:

1983

By:

Fawcett, H. A.;
Marsden, R. A.

Publication type:

Case Study

Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation.

Published in:

2018

By:

Leclercq, Valérie;
Benoit, Valérie;
Lederer, Damien;
Delaunoy, Melanie;
Ruiz, Marcela;
Halleux, Claire;
Robaux, Olivier;
Wanty, Catherine;
Maystadt, Isabelle

Publication type:

Case Study

Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation.

Published in:

British Journal of Dermatology, 2010, v. 162, n. 3, p. 690, doi. 10.1111/j.1365-2133.2009.09543.x

By:

Klaassens, M.;
Blom, E. W.;
Schrander, J. J. P.;
Ris-Stalpers, C.;
Kruseman, A. C. Nieuwenhuijzen;
van Steensel, M. A. M.;
Schrander-Stumpel, C. T. R. M.

Publication type:

Article

Reconsidering the importance of long-term low-level aluminum exposure in renal failure patients.

Published in:

2001

By:

Cannata-Andía, Jorge B.;
Cannata-Andía, J B

Publication type:

Editorial

A useful skin biopsy.

Published in:

International Journal of Dermatology, 2014, v. 53, n. 2, p. 238, doi. 10.1111/j.1365-4632.2012.05487.x

By:

Hon, Kam L.;
Chow, Chung M.;
Choi, Paul C. L.;
Wong, Gary W.

Publication type:

Article

HYPERPARATHYROIDISM DURING CHRONIC HEMODIALYSIS.

Published in:

Acta Endocrinologica (1841-0987), 2011, v. 7, n. 2, p. 291, doi. 10.4183/aeb.2011.291

By:

Gheorghiu, Monica;
Dumitrascu, Anda;
Chirita, Corina

Publication type:

Article

THE MANAGEMENT OF SECONDARY HYPERPARATHYROIDISM IN CRONIC KIDNEY DISEASE. ONE CENTER EXPERIENCE.

Published in:

Acta Endocrinologica (1841-0987), 2005, v. 1, n. 2, p. 181, doi. 10.4183/aeb.2005.181

By:

Mircescu, G.;
Capusa, Cristina;
Andreiana, Iuliana

Publication type:

Article

CHRONIC KIDNEY DISEASE AND HEALTHY BONE: A REVIEW.

Published in:

Journal of Research & Development / Revista de Investigación & Desarrollo, 2021, v. 11, n. 11, p. 51638, doi. 10.37118/ijdr.23244.11.2021

By:

Silveira Tavares, Fernanda;
de Luca Correa, Hugo;
Ferreira Melo, Gislane;
Teixeira Batista Carvalho, Ana Rachel;
Barbosa Villa, Júlia;
Berto, Arthur Minelli K.;
Passos Neves, Rodrigo Vanerson;
de Oliveira Gomes, Lucy;
dos Santos Rosa, Thiago

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

OSTEOMA CUTIS AND ALBRIGHT'S HEREDITARY OSTEODYSTROPHY.

Published in:

British Journal of Dermatology, 1971, v. 85, n. 5, p. 471, doi. 10.1111/j.1365-2133.1971.tb14056.x

By:

Brook, C.G.D.;
Valman, H.B.

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

A girl with poor school performance.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 1/2, p. 121, doi. 10.1007/s004310050026

By:

Narchi, H.

Publication type:

Article

Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism.

Published in:

1999

By:

Walden, U.;
Weissörtel, R.;
Corria, Z.;
Yu, D.;
Weinstein, L.;
Kruse, K.;
Dörr, H. G.;
Weissörtel, R;
Dörr, H G

Publication type:

journal article

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

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 hereditary osteodystrophy: A rare case report.

Published in:

2009

By:

Goswami, M.;
Verma, M.;
Singh, A.;
Grewal, H.;
Kumar, G.

Publication type:

Case Study

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

Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?

Published in:

Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/764152

By:

White, M.;
Conroy, J.;
Bullman, H.;
Lever, M.;
Daly, E.;
Betts, D. R.;
Cody, D.;
Crolla, John A.;
Lynch, S. A.

Publication type:

Article

NUTRITIONAL FIBROUS OSTEODYSTROPHY IN GOATS-REPORT OF TWO CASES.

Published in:

Journal of Indian Veterinary Association, 2022, v. 20, n. 2, p. 85, doi. 10.55296/JIVA/20.2.2022.85-88

By:

P. S., Nimi;
J., Bini

Publication type:

Article

RENAL OSTEODYSTROPHY IN A GERMAN SHEPHERD DOG - A CASE REPORT.

Published in:

Journal of Indian Veterinary Association, 2020, v. 18, n. 2, p. 57

By:

Angmo, Stanzin;
Chand;
Raguvaran, R.;
Sharma, Dushyant Kumar

Publication type:

Article

Pattern Identification and Chinese Herbal Medicine for Fibrous Osteodystrophy in 146 Horses.

Published in:

American Journal of Traditional Chinese Veterinary Medicine, 2013, v. 8, n. 2, p. 41

By:

Ben-Dong Fu;
Hai-Qing Shen;
Peng-Fei Yi;
Xu-Bin Wei

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

Bariatric surgery in an obese patient with Albright hereditary osteodystrophy: a case report.

Published in:

2013

By:

Ferrario, Chiara;
Gastaldi, Giacomo;
Portmann, Luc;
Giusti, Vittorio

Publication type:

journal article

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 743, doi. 10.1038/ejhg.2012.240

By:

Villavicencio-Lorini, Pablo;
Klopocki, Eva;
Trimborn, Marc;
Koll, Randi;
Mundlos, Stefan;
Horn, Denise

Publication type:

Article

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.

Published in:

2017

By:

Eun-Kyung Cho;
Jinsup Kim;
Aram Yang;
Sung Yoon;
Dong-Kyu Jin

Publication type:

Case Study

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

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

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 4, p. 277, doi. 10.1038/jhg.2012.1

By:

Izzi, Benedetta;
Zegher, Francis de;
Francois, Inge;
Favero, Jurgen del;
Goossens, Dirk;
Wittevrongel, Christine;
Thys, Chantal;
Van Geet, Chris;
Freson, Kathleen

Publication type:

Article

A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2009, v. 1, n. 5, p. 244, doi. 10.4274/jcrpe.v1i5.244

By:

Lubell, Tamar;
Garzon, Maria;
Anyane-Yeboa, Kwame;
Shah, Bina

Publication type:

Article

Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 537, doi. 10.1111/j.1399-0004.2004.00363.x

By:

Shrimpton, A. E.;
Braddock, B. R.;
Thomson, L. L.;
Stein, C. K.;
Hoo, J. J.

Publication type:

Article

Phosphate binder therapy for attainment of K/DOQI™ bone metabolism guidelines.

Published in:

Kidney International, 2005, v. 68, p. S7, doi. 10.1016/S0085-2538(15)51227-1

By:

Nolan, Charles R.

Publication type:

Article

Low bone turnover in patients with renal failure.

Published in:

Kidney International, 1999, v. 56, p. S70, doi. 10.1046/j.1523-1755.1999.07308.x

By:

Couttenye, Marie Madeleine;
D'haese, Patrick C.;
Verschoren, Wim J.;
Behets, Geert J.;
Schrooten, Iris;
De Broe, Marc E.

Publication type:

Article

Osteodystrophy in the millennium.

Published in:

Kidney International, 1999, v. 56, p. S94, doi. 10.1046/j.1523-1755.1999.07314.x

By:

Ritz, Eberhard;
Schömig, Michael;
Bommer, Jürgen

Publication type:

Article

What is the optimal regimen for vitamin D?

Published in:

Kidney International, 1999, v. 56, p. S59, doi. 10.1046/j.1523-1755.1999.07307.x

By:

Cunningham, John

Publication type:

Article

Histological diagnosis of renal osteodystrophy.

Published in:

Kidney International, 1999, v. 56, p. S26, doi. 10.1046/j.1523-1755.1999.07318.x

By:

Freemont, Tony

Publication type:

Article

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.

Published in:

Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1215, doi. 10.1002/jbmr.2785

By:

Elli, Francesca Marta;
Bordogna, Paolo;
de Sanctis, Luisa;
Giachero, Federica;
Verrua, Elisa;
Segni, Maria;
Mazzanti, Laura;
Boldrin, Valentina;
Toromanovic, Alma;
Spada, Anna;
Mantovani, Giovanna

Publication type:

Article

Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.

Published in:

Journal of Bone & Mineral Research, 2016, v. 31, n. 4, p. 796, doi. 10.1002/jbmr.2731

By:

Takatani, Rieko;
Molinaro, Angelo;
Grigelioniene, Giedre;
Tafaj, Olta;
Watanabe, Tomoyuki;
Reyes, Monica;
Sharma, Amita;
Singhal, Vibha;
Lucy Raymond, F.;
Linglart, Agnès;
Jüppner, Harald

Publication type:

Article

Effect of liver transplantation on multiple bone fractures in an infant with end-stage biliary atresia: a case report.

Published in:

2005

By:

Katsura, Shunsaku;
Ogita, Keiko;
Taguchi, Tomoaki;
Suita, Sachiyo;
Yoshizumi, Tomoharu;
Soejima, Yuji;
Shimada, Mitsuo;
Maehara, Yoshihiko

Publication type:

journal article

Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism.

Published in:

Australasian Journal of Dermatology, 2011, v. 52, n. 2, p. 127, doi. 10.1111/j.1440-0960.2010.00722.x

By:

Ward, Susannah;
Sugo, Ella;
Verge, Charles F.;
Wargon, Orli

Publication type:

Article

Polyglandular Autoimmune Syndrome Type III with Primary Hypoparathyroidism.

Published in:

Endocrinology & Metabolism, 2013, v. 28, n. 3, p. 236, doi. 10.3803/EnM.2013.28.3.236

By:

Sang Jin Kim;
Sang-Yoon Kim;
Han-Byul Kim;
Hyukwon Chang;
Ho-Chan Cho

Publication type:

Article

Albright's Hereditary Osteodystrophy.

Published in:

Annals of Internal Medicine, 1966, v. 64, n. 5, p. 996, doi. 10.7326/0003-4819-64-5-996

By:

Arnstein, A. Robert;
Frame, Boy;
Frost, Harold M.;
Block, Melvin A.

Publication type:

Article

Albright's Hereditary Osteodystrophy.

Published in:

Annals of Internal Medicine, 1965, v. 63, n. 1, p. 140, doi. 10.7326/0003-4819-63-1-140

By:

Alterman, Seymour L.;
Lieber, Arnold L.

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