181 related articles for article (PubMed ID: 31865343)
1. Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
Cabrera-Salcedo C; Hawkes CP; Tyzinski L; Andrew M; Labilloy G; Campos D; Feld A; Deodati A; Hwa V; Hirschhorn JN; Grimberg A; Dauber A;
Horm Res Paediatr; 2019; 92(3):186-195. PubMed ID: 31865343
[TBL] [Abstract][Full Text] [Related]
2. Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
Wang SR; Carmichael H; Andrew SF; Miller TC; Moon JE; Derr MA; Hwa V; Hirschhorn JN; Dauber A
J Clin Endocrinol Metab; 2013 Aug; 98(8):E1428-37. PubMed ID: 23771920
[TBL] [Abstract][Full Text] [Related]
3. Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.
Fang P; Schwartz ID; Johnson BD; Derr MA; Roberts CT; Hwa V; Rosenfeld RG
J Clin Endocrinol Metab; 2009 May; 94(5):1740-7. PubMed ID: 19240156
[TBL] [Abstract][Full Text] [Related]
4. High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.
Plachy L; Strakova V; Elblova L; Obermannova B; Kolouskova S; Snajderova M; Zemkova D; Dusatkova P; Sumnik Z; Lebl J; Pruhova S
J Clin Endocrinol Metab; 2019 Oct; 104(10):4273-4281. PubMed ID: 30753492
[TBL] [Abstract][Full Text] [Related]
5. Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height.
Lin Y; van Duyvenvoorde HA; Liu H; Yang C; Warsito D; Yin C; Kant SG; Haglund F; Wit JM; Larsson O
Eur J Endocrinol; 2018 Aug; 179(2):85-95. PubMed ID: 29789409
[TBL] [Abstract][Full Text] [Related]
6. Genetic IGF1R defects: new cases expand the spectrum of clinical features.
Gonc EN; Ozon ZA; Oguz S; Kabacam S; Taskiran EZ; Kiper POS; Utine GE; Alikasifoglu A; Kandemir N; Boduroglu OK; Alikasifoglu M
J Endocrinol Invest; 2020 Dec; 43(12):1739-1748. PubMed ID: 32356191
[TBL] [Abstract][Full Text] [Related]
7. Characterizing short stature by insulin-like growth factor axis status and genetic associations: results from the prospective, cross-sectional, epidemiogenetic EPIGROW study.
Clayton P; Bonnemaire M; Dutailly P; Maisonobe P; Naudin L; Pham E; Zhang Z; Grupe A; Thiagalingam A; Denèfle P;
J Clin Endocrinol Metab; 2013 Jun; 98(6):E1122-30. PubMed ID: 23596138
[TBL] [Abstract][Full Text] [Related]
8. Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment.
Gkourogianni A; Andrade AC; Jonsson BA; Segerlund E; Werner-Sperker A; Horemuzova E; Dahlgren J; Burstedt M; Nilsson O
Acta Paediatr; 2020 Oct; 109(10):2067-2074. PubMed ID: 32037650
[TBL] [Abstract][Full Text] [Related]
9. Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.
Kawashima Y; Kanzaki S; Yang F; Kinoshita T; Hanaki K; Nagaishi J; Ohtsuka Y; Hisatome I; Ninomoya H; Nanba E; Fukushima T; Takahashi S
J Clin Endocrinol Metab; 2005 Aug; 90(8):4679-87. PubMed ID: 15928254
[TBL] [Abstract][Full Text] [Related]
10.
Yuan K; Chen J; Chen Q; Chen H; Zhu J; Fang Y; Wang C
J Pediatr Endocrinol Metab; 2022 Feb; 35(2):185-190. PubMed ID: 34565054
[TBL] [Abstract][Full Text] [Related]
11. Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Andrews A; Maharaj A; Cottrell E; Chatterjee S; Shah P; Denvir L; Dumic K; Bossowski A; Mushtaq T; Vukovic R; Didi M; Shaw N; Metherell LA; Savage MO; Storr HL
J Clin Endocrinol Metab; 2021 Oct; 106(11):e4716-e4733. PubMed ID: 34136918
[TBL] [Abstract][Full Text] [Related]
12. Molecular genetic analysis and growth hormone response in patients with syndromic short stature.
Sun H; Li N; Wan N
BMC Med Genomics; 2021 Nov; 14(1):261. PubMed ID: 34740356
[TBL] [Abstract][Full Text] [Related]
13. Increasing knowledge in
Giabicani E; Willems M; Steunou V; Chantot-Bastaraud S; Thibaud N; Abi Habib W; Azzi S; Lam B; Bérard L; Bony-Trifunovic H; Brachet C; Brischoux-Boucher E; Caldagues E; Coutant R; Cuvelier ML; Gelwane G; Guemas I; Houang M; Isidor B; Jeandel C; Lespinasse J; Naud-Saudreau C; Jesuran-Perelroizen M; Perrin L; Piard J; Sechter C; Souchon PF; Storey C; Thomas D; Le Bouc Y; Rossignol S; Netchine I; Brioude F
J Med Genet; 2020 Mar; 57(3):160-168. PubMed ID: 31586944
[TBL] [Abstract][Full Text] [Related]
14. Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
Shapiro L; Chatterjee S; Ramadan DG; Davies KM; Savage MO; Metherell LA; Storr HL
Eur J Endocrinol; 2017 Dec; 177(6):485-501. PubMed ID: 28870985
[TBL] [Abstract][Full Text] [Related]
15. IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature).
Caliebe J; Broekman S; Boogaard M; Bosch CA; Ruivenkamp CA; Oostdijk W; Kant SG; Binder G; Ranke MB; Wit JM; Losekoot M
Horm Res Paediatr; 2012; 77(4):250-60. PubMed ID: 22572840
[TBL] [Abstract][Full Text] [Related]
16. Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.
Ester WA; van Duyvenvoorde HA; de Wit CC; Broekman AJ; Ruivenkamp CA; Govaerts LC; Wit JM; Hokken-Koelega AC; Losekoot M
J Clin Endocrinol Metab; 2009 Dec; 94(12):4717-27. PubMed ID: 19864454
[TBL] [Abstract][Full Text] [Related]
17. A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.
Lin L; Li M; Luo J; Li P; Zhou S; Yang Y; Chen K; Weng Y; Ge X; Mireguli M; Wei H; Yang H; Li G; Sun Y; Cui L; Zhang S; Chen J; Zeng G; Xu L; Luo X; Shen Y
J Clin Endocrinol Metab; 2021 Jun; 106(7):e2711-e2719. PubMed ID: 33606014
[TBL] [Abstract][Full Text] [Related]
18. Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature.
Hujeirat Y; Hess O; Shalev S; Tenenbaum-Rakover Y
Horm Res; 2006; 65(4):210-6. PubMed ID: 16582564
[TBL] [Abstract][Full Text] [Related]
19. Genetic evaluation of short stature.
Dauber A; Rosenfeld RG; Hirschhorn JN
J Clin Endocrinol Metab; 2014 Sep; 99(9):3080-92. PubMed ID: 24915122
[TBL] [Abstract][Full Text] [Related]
20. A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.
Walenkamp MJ; van der Kamp HJ; Pereira AM; Kant SG; van Duyvenvoorde HA; Kruithof MF; Breuning MH; Romijn JA; Karperien M; Wit JM
J Clin Endocrinol Metab; 2006 Aug; 91(8):3062-70. PubMed ID: 16757531
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
