355 related articles for article (PubMed ID: 35550183)
1. From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.
Wiel LC; Bruno I; Barbi E; Sirchia F
Ital J Pediatr; 2022 May; 48(1):72. PubMed ID: 35550183
[TBL] [Abstract][Full Text] [Related]
2. De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.
Jiang Y; Sun H; Lin Q; Wang Z; Wang G; Wang J; Jiang F; Yao R
BMC Med Genet; 2019 Aug; 20(1):134. PubMed ID: 31382906
[TBL] [Abstract][Full Text] [Related]
3. The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.
Hu X; Wu D; Li Y; Wei L; Li X; Qin M; Li H; Li M; Chen S; Gong C; Shen Y
BMC Med Genomics; 2020 Dec; 13(1):181. PubMed ID: 33276791
[TBL] [Abstract][Full Text] [Related]
4. Case report: A
Yang Q; Gong D; Yi S; Luo J; Zhang Q
Front Pediatr; 2023; 11():1064783. PubMed ID: 37351323
[TBL] [Abstract][Full Text] [Related]
5. De novo loss-of-function variants in
Barrie ES; Alfaro MP; Pfau RB; Goff MJ; McBride KL; Manickam K; Zmuda EJ
Cold Spring Harb Mol Case Stud; 2019 Aug; 5(4):. PubMed ID: 31171569
[TBL] [Abstract][Full Text] [Related]
6. Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Boczek NJ; Lahner CA; Nguyen TM; Ferber MJ; Hasadsri L; Thorland EC; Niu Z; Gavrilova RH
Am J Med Genet A; 2018 Dec; 176(12):2798-2802. PubMed ID: 30345613
[TBL] [Abstract][Full Text] [Related]
7. 109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
Okamoto N; Ohmachi K; Shimada S; Shimojima K; Yamamoto T
Am J Med Genet A; 2013 Jun; 161A(6):1465-9. PubMed ID: 23637096
[TBL] [Abstract][Full Text] [Related]
8. Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.
Paprocka J; Kaminiów K; Yetkin O; Tekturk P; Baykan B; Leiz S; Kluger G; Striano P
Seizure; 2024 Mar; 116():14-23. PubMed ID: 36526544
[TBL] [Abstract][Full Text] [Related]
9. Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Nishi E; Yanagi K; Kaname T; Okamoto N
Mol Genet Genomic Med; 2024 Feb; 12(2):e2396. PubMed ID: 38353053
[TBL] [Abstract][Full Text] [Related]
10. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
Zollino M; Murdolo M; Marangi G; Pecile V; Galasso C; Mazzanti L; Neri G
Am J Med Genet C Semin Med Genet; 2008 Nov; 148C(4):257-69. PubMed ID: 18932124
[TBL] [Abstract][Full Text] [Related]
11. Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study.
Carey JC; Lortz A; Mendel A; Battaglia A
Am J Med Genet A; 2021 Jul; 185(7):2065-2069. PubMed ID: 33949758
[TBL] [Abstract][Full Text] [Related]
12. Prenatal Diagnosis and Molecular Cytogenetic Analyses of a de novo Deletion on Chromosome 4p16.3p15.33.
Luo H; Chang R; Liu F; Gao X
Altern Ther Health Med; 2023 Nov; 29(8):907-909. PubMed ID: 37708564
[TBL] [Abstract][Full Text] [Related]
13. LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.
Hart L; Rauch A; Carr AM; Vermeesch JR; O'Driscoll M
Dis Model Mech; 2014 May; 7(5):535-45. PubMed ID: 24626991
[TBL] [Abstract][Full Text] [Related]
14. Wolf-Hirschhorn syndrome: A case series from India.
Chaudhry C; Kaur A; Panigrahi I; Kaur A
Am J Med Genet A; 2020 Dec; 182(12):3048-3051. PubMed ID: 32914558
[TBL] [Abstract][Full Text] [Related]
15. A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
Terrone G; Cappuccio G; Genesio R; Esposito A; Fiorentino V; Riccitelli M; Nitsch L; Brunetti-Pierri N; Del Giudice E
Am J Med Genet A; 2014 Jan; 164A(1):190-3. PubMed ID: 24243641
[TBL] [Abstract][Full Text] [Related]
16. Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.
Zollino M; Orteschi D; Ruiter M; Pfundt R; Steindl K; Cafiero C; Ricciardi S; Contaldo I; Chieffo D; Ranalli D; Acquafondata C; Murdolo M; Marangi G; Asaro A; Battaglia D
Epilepsia; 2014 Jun; 55(6):849-57. PubMed ID: 24738919
[TBL] [Abstract][Full Text] [Related]
17. Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals.
Battaglia A; Lortz A; Carey JC
Am J Med Genet A; 2021 Jun; 185(6):1794-1802. PubMed ID: 33760347
[TBL] [Abstract][Full Text] [Related]
18. The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Popp B; Brugger M; Poschmann S; Bartolomaeus T; Radtke M; Hentschel J; Di Donato N; Rump A; Gburek-Augustat J; Graf E; Wagner M; Sorge I; Lemke JR; Meitinger T; Abou Jamra R; Strehlow V; Brunet T
Clin Genet; 2023 Feb; 103(2):226-230. PubMed ID: 36189577
[TBL] [Abstract][Full Text] [Related]
19. De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.
Derar N; Al-Hassnan ZN; Al-Owain M; Monies D; Abouelhoda M; Meyer BF; Moghrabi N; Alkuraya FS
Genet Med; 2019 Jan; 21(1):185-188. PubMed ID: 29892088
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
