Search the collection

117 results for Pseudohypoparathyroidism+-+genetics

Sort by:

Sort by

Limit results to:

20 per page

117 results for Pseudohypoparathyroidism+-+genetics

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
Author / Creator:Mantovani, Giovanna ; Bastepe, Murat ; Monk, David ; de Sanctis, Luisa ; Thiele, Susanne ; Usardi, Alessia ; Ahmed, S. Faisal ; Bufo, Roberto ; Choplin, Timothée ; De Filippo, Gianpaolo ; Devernois, Guillemette ; Eggermann, Thomas ; Elli, Francesca M. ; Freson, Kathleen ; García Ramirez, Aurora ; Germain-Lee, Emily L. ; Groussin, Lionel ; Hamdy, Neveen ; Hanna, Patrick ; Hiort, Olaf ; Jüppner, Harald ; Kamenický, Peter ; Knight, Nina ; Kottler, Marie-Laure ; Le Norcy, Elvire ; Lecumberri, Beatriz ; Levine, Michael A. ; Mäkitie, Outi ; Martin, Regina ; Martos-Moreno, Gabriel Ángel ; Minagawa, Masanori ; Murray, Philip ; Pereda, Arrate ; Pignolo, Robert ; Rejnmark, Lars ; Rodado, Rebecca ; Rothenbuhler, Anya ; Saraff, Vrinda ; Shoemaker, Ashley H. ; Shore, Eileen M. ; Silve, Caroline ; Turan, Serap ; Woods, Philip ; Zillikens, M. Carola ; Perez de Nanclares, Guiomar ; Linglart, Agnès
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Endocrinology, 2018-08, Vol.14 (8), p.476-500
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects
Author / Creator:Danzig, Jennifer ; Li, Dong ; Jan de Beur, Suzanne ; Levine, Michael A
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2021-11, Vol.106 (11), p.e4603-e4620
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis
Author / Creator:Iwasaki, Yorihiro ; Aksu, Cagri ; Reyes, Monica ; Ay, Birol ; He, Qing ; Bastepe, Murat
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2023-04, Vol.133 (8), p.1-14
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism
Author / Creator:Hawkes, Colin P ; Al Jubeh, Jamal M ; Li, Dong ; Tucker, Susan E ; Rajiyah, Tara ; Levine, Michael A
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2022-05, Vol.107 (6), p.e2449-e2458
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib
Author / Creator:Milioto, Angelo ; Reyes, Monica ; Hanna, Patrick ; Kiuchi, Zentaro ; Turan, Serap ; Zeve, Daniel ; Agarwal, Chhavi ; Grigelioniene, Giedre ; Chen, Ang ; Mericq, Veronica ; Frangos, Myrto ; Ten, Svetlana ; Mantovani, Giovanna ; Salusky, Isidro B ; Tebben, Peter ; Jüppner, Harald
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2022-04, Vol.107 (4), p.e1610-e1619
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2
Author / Creator:Hanna, Patrick ; Francou, Bruno ; Delemer, Brigitte ; Jüppner, Harald ; Linglart, Agnès
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2021-09, Vol.106 (9), p.2779-2787
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights Into the Pathogenesis of Methylation Defects
Author / Creator:Keidai, Yamato ; Iwasaki, Yorihiro ; Iwasaki, Kanako ; Honjo, Sachiko ; Bastepe, Murat ; Hamasaki, Akihiro
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2022-03, Vol.107 (3), p.e947-e954
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA
Author / Creator: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
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2024-02, Vol.109 (2), p.424-438
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Fahr’s Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights
Author / Creator:Wang, Xiangpu ; Xu, Taoyun ; Zhu, Yulong ; Duan, Xiaohong
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-11, Vol.25 (21), p.11611
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions
Author / Creator:Kiuchi, Zentaro ; Reyes, Monica ; Hanna, Patrick ; Sharma, Anu ; DeClue, Terry ; Olney, Robert C ; Tebben, Peter ; Jüppner, Harald
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2022-02, Vol.107 (2), p.e681-e687
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
gnas Knockdown Induces Obesity and AHO Features in Early Zebrafish Larvae
Author / Creator:Abbas, Alaa ; Hammad, Ayat S ; Zakaria, Zain Z. ; Al-Asmakh, Maha ; Hussain, Khalid ; Al-Shafai, Mashael
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-12, Vol.25 (23), p.12674
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS
Author / Creator: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.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-07, Vol.10 (1), p.11389-11389, Article 11389
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes
Author / Creator:Grüters-Kieslich, Annette ; Reyes, Monica ; Sharma, Amita ; Demirci, Cem ; DeClue, Terry J ; Lankes, Erwin ; Tiosano, Dov ; Schnabel, Dirk ; Jüppner, Harald
Publisher:Washington, DC: Endocrine Society
Journal title:The journal of clinical endocrinology and metabolism, 2017-08, Vol.102 (8), p.2670-2677
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Molecular Definition of Pseudohypoparathyroidism Variants
Author / Creator:Juppner, Harald
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2021-06, Vol.106 (6), p.1541-1552
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
A biallelically active embryonic enhancer dictates GNAS imprinting through allele-specific conformations
Author / Creator:Iwasaki, Yorihiro ; Reyes, Monica ; Jüppner, Harald ; Bastepe, Murat
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2025-02, Vol.16 (1), p.1377-13, Article 1377
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Genotype–Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation
Author / Creator:Cipriano, Lorenzo ; Ferrigno, Rosario ; Andolfo, Immacolata ; Russo, Roberta ; Cioffi, Daniela ; Savanelli, Maria Cristina ; Pellino, Valeria ; Klain, Antonella ; Iolascon, Achille ; Piscopo, Carmelo
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-10, Vol.25 (20), p.10913
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A
Author / Creator:Sippelli, Fabio ; Briuglia, Silvana ; Ferraloro, Chiara ; Capra, Anna Paola ; Agolini, Emanuele ; Abbate, Tiziana ; Pepe, Giorgia ; Aversa, Tommaso ; Wasniewska, Malgorzata ; Corica, Domenico
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2024-04, Vol.24 (1), p.271-271, Article 271
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
The role of long non-coding RNAs in the pathogenesis of hereditary diseases
Author / Creator:Sparber, Peter ; Filatova, Alexandra ; Khantemirova, Mira ; Skoblov, Mikhail
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2019-03, Vol.12 (S2), p.42-42, Article 42
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Gsα deficiency in the dorsomedial hypothalamus underlies obesity associated with Gsα mutations
Author / Creator:Chen, Min ; Shrestha, Yogendra B. ; Podyma, Brandon ; Cui, Zhenzhong ; Naglieri, Benedetta ; Sun, Hui ; Ho, Thuy ; Wilson, Eric A. ; Li, Yong-Qi ; Gavrilova, Oksana ; Weinstein, Lee S.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2017-02, Vol.127 (2), p.500-510
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI
Author / Creator:Salemi, Parissa ; Skalamera Olson, Julie M ; Dickson, Lauren E ; Germain-Lee, Emily L
Publisher:United States: Copyright Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2018-01, Vol.103 (1), p.158-168
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 117 results

Export record to excel

Export this record

Export record to excel

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Export this record

Export record to excel

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

Export this record

Export record to excel

The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis

Export this record

Export record to excel

Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism

Export this record

Export record to excel

Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib

Export this record

Export record to excel

A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

Fahr’s Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights

Export this record

Export record to excel

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

Export this record

Export record to excel

gnas Knockdown Induces Obesity and AHO Features in Early Zebrafish Larvae

Export this record

Export record to excel

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

Export this record

Export record to excel

Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes

Export this record

Export record to excel

Molecular Definition of Pseudohypoparathyroidism Variants

Export this record

Export record to excel

A biallelically active embryonic enhancer dictates GNAS imprinting through allele-specific conformations

Export this record

Export record to excel

Genotype–Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation

Export this record

Export record to excel

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

Export this record

Export record to excel

The role of long non-coding RNAs in the pathogenesis of hereditary diseases

Export this record

Export record to excel

Gsα deficiency in the dorsomedial hypothalamus underlies obesity associated with Gsα mutations

Export this record

Export record to excel

Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI

Refine your search