A patient with a novel homozygous mutation in IGF1-R gene and response to growth hormone therapy

被引：0
|
作者：
Nasser, Al Shidhani Azza [1 ]
Al-Kindi, Adila [2 ]
Ullah, Irfan [1 ]
Al Saffar, Hussein [1 ]
Al Yaarubi, Saif [1 ]
机构：
[1] Sultan Qaboos Univ Hosp, Child Hlth Dept, Pediat Endocrine Unit, Muscat, Oman
[2] Sultan Qaboos Univ, Genet Dept, Muscat, Oman
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2019年 / 91卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P1-222
引用
收藏
页码：237 / 237
页数：1
相关论文
共 50 条
  • [1] rhGH therapy in a patient with homozygous IGF1R mutation
    Amodeo, Maria Elisa
    Deodati, Annalisa
    Mirra, Giulia
    Tattesi, Giulia
    Cianfarani, Stefano
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 267 - 267
  • [2] High Efficacy Growth Hormone Therapy in Patient with Homozygous Mutation in Growth Hormone Gene (GH-1) During 3 Years
    Anna, Gavrilova
    Elena, Nagaeva
    Tatyana, Shiryaeva
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 390 - 390
  • [3] Novel Homozygous IGF1 Gene Mutation in a Child with Severe Pre and Postnatal Growth Retardation
    Keselman, Ana
    Scaglia, Paula
    Martin, Ayelen
    Sanguineti, Nora
    Armando, Romina
    Gutierrez, Mariana
    Braslavsky, Debora
    Gabriela Ballerini, Maria
    Gabriela Ropelato, Maria
    Cassinelli, Hamilton
    Casali, Barbara
    del Rey, Graciela
    Campos Barros, Angel
    Nevado, Julian
    Domene, Horacio
    Jasper, Hector
    Arberas, Claudia
    Pennisi, Patricia
    Rey, Rodolfo
    Lapunzina, Pablo
    Bergada, Ignacio
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 23 - 23
  • [4] Response to growth hormone therapy with high IGF-1-levels and severe insulin resistance in two-cases with SOFT syndrome: A novel homozygous mutation in POC1A
    Karakilic-Ozturan, Esin
    Altuoglu, Umut
    Ozturk, Ayse Pinar
    Toksoy, Guven
    Turgut, Gozde Tutku
    Poyrazoglu, Sukran
    Bas, Firdevs
    Uyguner, Oya
    Darendeliler, Feyza
    HORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 1): : 317 - 317
  • [5] Severe Pre- and Postnatal Growth Retardation in a Child Harboring a Novel Homozygous Igf1 Gene Mutation
    Claudia Keselman, Ana
    Alejandra Scaglia, Paula
    Martin, Ayelen
    Armando, Romina
    Maria Sanguineti, Nora
    Gutierrez, Mariana
    Braslavsky, Debora
    Gabriela Ballerini, Maria
    Gabriela Ropelato, Maria
    Cassinelli, Hamilton
    Casali, Barbara
    Del Rey, Graciela
    Campos Barros, Angel
    Nevado Blanco, Julian
    Domene, Horacio
    Jasper, Hector
    Arberas, Claudia
    Rey, Rodolfo
    Pennisi, Patricia
    Lapunzina-Badia, Pablo
    Bergada, Ignacio
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 381 - 381
  • [6] Childhood thyroid cancers express insulin-like growth factor-1 (IGF-1) and the IGF-1 receptor (IGF1-R) and aggressive cancers are more likely to express IGF1-R
    Gydee, HK
    O'Neill, JT
    Patel, A
    Bauer, AJ
    Tuttle, RM
    Francis, G
    PEDIATRIC RESEARCH, 2003, 53 (04) : 144A - 144A
  • [7] Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations
    Gannage-Yared, Marie-Helene
    Klammt, Juergen
    Chouery, Eliane
    Corbani, Sandra
    Megarbane, Hala
    Abou Ghoch, Joelle
    Choucair, Nancy
    Pfaeffle, Roland
    Megarbane, Andre
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2013, 168 (01) : K1 - K7
  • [8] Novel Growth Hormone Receptor Gene Mutation in a Patient with Laron Syndrome
    Arman, Ahmet
    Yuksel, Bilgin
    Coker, Ajda
    Sarioz, Ozlem
    Temiz, Fatih
    Topaloglu, Ali Kemal
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2010, 23 (04): : 407 - 414
  • [9] A Case of Severe IGF-1 Deficiency Secondary to a Novel Homozygous Deletion in the Growth Hormone Receptor (GHR) Gene.
    Koltin, D.
    Derr, M. A.
    Hwa, V.
    Rosenfeld, R. G.
    Hamilton, J.
    ENDOCRINE REVIEWS, 2010, 31 (03)
  • [10] LONG-TERM GROWTH HORMONE THERAPY IN A PATIENT WITH IGF1R DELETION WITH DEVELOPMENT OF OBESITY
    Huang, Ruimin
    Kaminski, Beth A.
    HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 63 - 64
12345