122 related articles for article (PubMed ID: 32504121)
1. DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.
Elzaiat M; Flatters D; Sierra-Díaz DC; Legois B; Laissue P; Veitia RA
Hum Genet; 2020 Nov; 139(11):1455-1470. PubMed ID: 32504121
[TBL] [Abstract][Full Text] [Related]
2. Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.
Ayers K; van den Bergen J; Robevska G; Listyasari N; Raza J; Atta I; Riedl S; Rothacker K; Choong C; Faradz SMH; Sinclair A
J Med Genet; 2019 Jul; 56(7):434-443. PubMed ID: 31018998
[TBL] [Abstract][Full Text] [Related]
3. In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.
Tajouri A; Kharrat M; Hizem S; Zaghdoudi H; M'rad R; Simic-Schleicher G; Kaiser FJ; Hiort O; Werner R
Hum Mutat; 2018 Dec; 39(12):2097-2109. PubMed ID: 30298535
[TBL] [Abstract][Full Text] [Related]
4. In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.
Castro JJ; Méndez JP; Coral-Vázquez RM; Soriano-Ursúa MA; Damian-Matsumura P; Benítez-Granados J; Rosas-Vargas H; Canto P
DNA Cell Biol; 2013 Sep; 32(9):524-30. PubMed ID: 23786321
[TBL] [Abstract][Full Text] [Related]
5. 46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.
Werner R; Merz H; Birnbaum W; Marshall L; Schröder T; Reiz B; Kavran JM; Bäumer T; Capetian P; Hiort O
J Clin Endocrinol Metab; 2015 Jul; 100(7):E1022-9. PubMed ID: 25927242
[TBL] [Abstract][Full Text] [Related]
6. A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations.
Paris F; Flatters D; Caburet S; Legois B; Servant N; Lefebvre H; Sultan C; Veitia RA
Clin Endocrinol (Oxf); 2017 Nov; 87(5):539-544. PubMed ID: 28708305
[TBL] [Abstract][Full Text] [Related]
7. 46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.
Neocleous V; Fanis P; Cinarli F; Kokotsis V; Oulas A; Toumba M; Spyrou GM; Phylactou LA; Skordis N
Hormones (Athens); 2019 Sep; 18(3):315-320. PubMed ID: 31240586
[TBL] [Abstract][Full Text] [Related]
8. Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.
Canto P; Söderlund D; Reyes E; Méndez JP
J Clin Endocrinol Metab; 2004 Sep; 89(9):4480-3. PubMed ID: 15356051
[TBL] [Abstract][Full Text] [Related]
9. Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods.
Das DK; Sanghavi D; Gawde H; Idicula-Thomas S; Vasudevan L
Eur J Med Genet; 2011; 54(6):e529-34. PubMed ID: 21816240
[TBL] [Abstract][Full Text] [Related]
10. Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review.
Baldinotti F; Cavallaro T; Dati E; Baroncelli GI; Bertini V; Valetto A; Massart F; Fabrizi GM; Zanette G; Peroni D; Bertelloni S
Horm Res Paediatr; 2018; 89(3):141-149. PubMed ID: 29471294
[TBL] [Abstract][Full Text] [Related]
11. Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis.
Chauhan V; Jyotsna VP; Jain V; Khadgawat R; Dada R
Horm Metab Res; 2017 Jan; 49(1):36-42. PubMed ID: 27711951
[TBL] [Abstract][Full Text] [Related]
12. The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development.
Pachernegg S; Georges E; Ayers K
Sex Dev; 2022; 16(2-3):98-111. PubMed ID: 34518472
[TBL] [Abstract][Full Text] [Related]
13. Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.
Paliwal P; Sharma A; Birla S; Kriplani A; Khadgawat R; Sharma A
Mol Hum Reprod; 2011 Jun; 17(6):372-8. PubMed ID: 21242195
[TBL] [Abstract][Full Text] [Related]
14. Mutation analysis of the SRY, NR5A1, and DHH genes in six Chinese 46,XY women.
Liao X; Liang D; Li Y; Xi H; Quan Y; Wu L
J Matern Fetal Neonatal Med; 2011 Jun; 24(6):863-6. PubMed ID: 21366396
[TBL] [Abstract][Full Text] [Related]
15. Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation.
Umehara F; Tate G; Itoh K; Osame M
Cell Mol Biol (Noisy-le-grand); 2002 Mar; 48(2):187-9. PubMed ID: 11990454
[TBL] [Abstract][Full Text] [Related]
16. A novel, homozygous mutation in
Rothacker KM; Ayers KL; Tang D; Joshi K; van den Bergen JA; Robevska G; Samnakay N; Nagarajan L; Francis K; Sinclair AH; Choong CS
Int J Pediatr Endocrinol; 2018; 2018():2. PubMed ID: 29507583
[TBL] [Abstract][Full Text] [Related]
17. New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment.
Brito LA; Nóbrega PR; Dias DA; Barreto ARF; Freitas HC; Kok F; Rodrigues CL
Neurol Sci; 2023 Oct; 44(10):3691-3696. PubMed ID: 37140833
[TBL] [Abstract][Full Text] [Related]
18. [Clinical Findings in Two patients with DSD 46XY caused by new variant of the
Kalinchenko NY; Batyrova ZK; Kostrova IB; Kolodkina AA; Uvarova EN; Kumykova ZK; Asaturova AV; Khabas GN; Tiulpakov AN
Probl Endokrinol (Mosk); 2021 Jun; 67(3):73-77. PubMed ID: 34297505
[TBL] [Abstract][Full Text] [Related]
19. Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.
Tajouri A; Ben Gaied D; Hizem S; Boujelben S; Maazoul F; M'rad R; Poulat F; Kharrat M
Sex Dev; 2017; 11(4):203-209. PubMed ID: 28787711
[TBL] [Abstract][Full Text] [Related]
20. Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.
Rehkämper J; Tewes AC; Horvath J; Scherer G; Wieacker P; Ledig S
Sex Dev; 2017; 11(5-6):248-253. PubMed ID: 29190620
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
