Works matching DE "PSEUDOHYPOPARATHYROIDISM"

Results: 150

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

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

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

Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review.

Published in:

Frontiers in Physiology, 2018, p. N.PAG, doi. 10.3389/fphys.2018.00701

By:

Hejlesen, Jane;
Haubek, Dorte;
Underbjerg, Line;
Sikjaer, Tanja;
Rejnmark, Lars;
Gjørup, Hans;
Bloch-Zupan, Agnes

Publication type:

Article

Multilocus methylation defects in imprinting disorders.

Published in:

Biomolecular Concepts, 2015, v. 6, n. 1, p. 47, doi. 10.1515/bmc-2014-0037

By:

Mackay, Deborah J. G.;
Eggermann, Thomas;
Buiting, Karin;
Garin, Intza;
Netchine, Irène;
Linglart, Agnès;
Perez de Nanclares, Guiomar

Publication type:

Article

Mental Deficiency in Pseudohypoparathyroidism Type I Is Associated with Ns--Protein Deficiency.

Published in:

Annals of Internal Medicine, 1986, v. 105, n. 2, p. 197, doi. 10.7326/0003-4819-105-2-197

By:

Farfel, Zvi;
Friedman, Eitan

Publication type:

Article

Calcium-Regulating Hormones.

Published in:

Annals of Internal Medicine, 1980, v. 93, n. 6, p. 928, doi. 10.7326/0003-4819-93-6-928

By:

Frame, Boy;
Rao, Sudhaker D.

Publication type:

Article

Early manifestation of obesity and calcinosis cutis in infantile pseudohypoparathyroidism.

Published in:

Journal of Paediatrics & Child Health, 2006, v. 42, n. 12, p. 821, doi. 10.1111/j.1440-1754.2006.00985.x

By:

Poomthavorn, Preamrudee;
Zacharin, Margaret

Publication type:

Article

A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 297, doi. 10.1515/jpem.2011.172

By:

Winter, Julia;
Hiort, Olaf;
Hermanns, Pia;
Thiele, Susanne;
Pohlenz, Joachim

Publication type:

Article

A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 297, doi. 10.1515/JPEM.2011.172

By:

Winter, Julia;
Hiort, Olaf;
Hermanns, Pia;
Thiele, Susanne;
Pohlenz, Joachim

Publication type:

Article

Case Series of Neonatal Hypocalcemia due to Pseudohypoparathyroidism.

Published in:

2010

By:

Patra, Soumya;
Slngh, Varinder;
Pemde, Harish K.;
Chandra, Jagdish

Publication type:

Case Study

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

Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68379-3

By:

Swieringa, Frauke;
Solari, Fiorella A.;
Pagel, Oliver;
Beck, Florian;
Huang, Jingnan;
Feijge, Marion A. H.;
Jurk, Kerstin;
Körver-Keularts, Irene M. L. W.;
Mattheij, Nadine J. A.;
Faber, Jörg;
Pohlenz, Joachim;
Russo, Alexandra;
Stumpel, Connie T. R. M.;
Schrander, Dirk E.;
Zieger, Barbara;
van der Meijden, Paola E. J.;
Zahedi, René P.;
Sickmann, Albert;
Heemskerk, Johan W. M.

Publication type:

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

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

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

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

Seudohipoparatiroidismo neonatal transitorio: una causa rara de hipocalcemia neonatal tardía.

Published in:

Acta Pediátrica Española, 2012, v. 70, n. 4, p. 166

By:

Cuesta Rubio, M. T.;
Ortiz Movilla, R.;
Fuente Blanco, L.;
Cabanillas Vilaplana, L.;
Gutiérrez Díez, M. P.

Publication type:

Article

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

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

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

Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay.

Published in:

European Journal of Endocrinology, 2013, v. 168, n. 2, p. 169, doi. 10.1530/EJE-12-0548

By:

Akiko Yuno;
Takeshi Usui;
Yuko Yambe;
Kiichiro Higashi;
Satoshi Ugi;
Junji Shinoda;
Yasuo Mashio;
Akira Shimatsu

Publication type:

Article

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

Published in:

European Journal of Endocrinology, 2011, v. 164, n. 2, p. 295, doi. 10.1530/EJE-10-0795

By:

Anne Marie Sbrocchi

Publication type:

Article

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism.

Published in:

European Journal of Endocrinology, 2010, v. 163, n. 6, p. 953

By:

Eduardo Fernández-Rebollo

Publication type:

Article

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

Published in:

European Journal of Endocrinology, 2010, v. 163, n. 3, p. 489, doi. 10.1530/EJE-10-0348

By:

Serap Turan

Publication type:

Article

Resistance to epinephrine and hypersensitivity (hyperresponsiveness) to CB1 antagonists in a patient with pseudohypoparathyroidism type Ic.

Published in:: European Journal of Endocrinology, 2010, v. 162, n. 4, p. 819, doi. 10.1530/EJE-09-0951
Publication type:: Article

Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.

Published in:

European Journal of Endocrinology, 2005, v. 152, n. 4, p. 515, doi. 10.1530/eje.1.01879

By:

Felix G Riepe;
Wiebke Ahrens;
Nils Krone;
Regina Flster-Holst;
Jochen Brasch;
Wolfgang G Sippell;
Olaf Hiort;
Carl-Joachim Partsch

Publication type:

Article

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 2, p. 424, doi. 10.1210/clinem/dgad524

By:

Ludar, Hanna;
Levy-Shraga, Yael;
Admoni, Osnat;
Majdoub, Hussein;
Aronovitch, Kineret Mazor;
Koren, Ilana;
Rath, Shoshana;
Elias-assad, Ghadir;
Almashanu, Shlomo;
Mantovani, Giovanna;
Hamiel, Orit Pinhas;
Tenenbaum-Rakover, Yardena

Publication type:

Article

Neonatal and Early Infancy Features of Patients With Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 11, p. 2961, doi. 10.1210/clinem/dgad236

By:

Del Sindaco, Giulia;
Berkenou, Jugurtha;
Pagnano, Angela;
Rothenbuhler, Anya;
Arosio, Maura;
Mantovani, Giovanna;
Linglart, Agnès

Publication type:

Article

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

Published in:

Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 3, p. e947, doi. 10.1210/clinem/dgab801

By:

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

Publication type:

Article

Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 2, p. e681, doi. 10.1210/clinem/dgab660

By:

Zentaro Kiuchi;
Reyes, Monica;
Hanna, Patrick;
Sharma, Anu;
DeClue, Terry;
Olney, Robert C.;
Tebben, Peter;
Jüppner, Harald

Publication type:

Article

High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects.

Published in:

2021

By:

Jennifer Danzig;
Dong Li;
de Beur, Suzanne Jan;
Levine, Michael A.;
Danzig, Jennifer;
Li, Dong;
Jan de Beur, Suzanne

Publication type:

journal article

Pseudohypoparathyroidism, Obesity, and Type 2 Diabetes.

Published in:

Diabetes Care, 1999, v. 22, n. 3, p. 523, doi. 10.2337/diacare.22.3.523

By:

Kawakami, Akio;
Nagasaka, Shoichiro;
Rokkaku, Kumiko;
Nakamura, Tomoatsu;
Kusaka, Ikuyo;
Yajima, Yukiko;
Ishikawa, San-E;
Saito, Toshikazu

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

Pediatric Radiology Continuing Medical Education Activity.

Published in:: 2016
Publication type:: journal article

Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism.

Published in:

2001

By:

Graham Jr., John M.;
Krakow, Deborah;
Tolo, Vernon T.;
Smith, Andrew K.;
Lachman, R. S.;
Graham, J M Jr;
Krakow, D;
Tolo, V T;
Smith, A K

Publication type:

journal 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

Energy expenditure in obese children with pseudohypoparathyroidism type 1a.

Published in:

International Journal of Obesity, 2013, v. 37, n. 8, p. 1147, doi. 10.1038/ijo.2012.200

By:

Shoemaker, A H;
Lomenick, J P;
Saville, B R;
Wang, W;
Buchowski, M S;
Cone, R D

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

Pseudohypoparathyroidism Presenting with Ventricular Arrhythmia: A Case Report.

Published in:

2012

By:

Işıkay, Sedat;
Akdemir, İlyas;
Yılmaz, Kutluhan

Publication type:

Case Study

Vitamin D Deficiency Rickets Mimicking Pseudohypoparathyroidism.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2010, v. 2, n. 4, p. 173, doi. 10.4274/jcrpe.v2i4.173

By:

Akın, Leyla;
Kurtoğlu, Selim;
Yıldız, Aysel;
Akın, Mustafa Ali;
Kendirci, Mustafa

Publication type:

Article

Long-Term Follow-Up of a Pseudohypoparathyroidism Type 1A Patient with Missense Mutation (Pro115Ser) in Exon 5.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2010, v. 2, n. 2, p. 85, doi. 10.4274/jcrpe.v2i2.85

By:

Erdeve, Şenay Savaş;
Berberoğlu, Merih;
Şklar, Zeynep;
Evliyaoğlu, Olcay;
Hiort, Olaf;
Öcal, Gönül

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