International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay-Reference-Cited by-同舟云学术

International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

Published:2019-11-25 Issue:1 Volume:182 Page:257-267
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Nevado Julián¹²^ORCID,Ho Karen S.³⁴⁵,Zollino Marcella⁶^ORCID,Blanco Raquel⁷,Cobaleda César⁸,Golzio Christelle⁹,Beaudry‐Bellefeuille Isabelle¹⁰,Berrocoso Sarah¹¹,Limeres Jacobo¹²,Barrúz Pilar¹,Serrano‐Martín Candela¹²,Cafiero Concetta⁶,Málaga Ignacio⁷,Marangi Giuseppe⁶,Campos‐Sánchez Elena⁸,Moriyón‐Iglesias Tania¹⁰,Márquez Sorangui¹³,Markham Leah³,Twede Hope³,Lortz Amanda¹⁴,Olson Lenora⁴,Sheng Xiaoming⁴,Weng Cindy⁴,Wassman Edward Robert¹⁵,Newcomb Tara⁴,Wassman Edward Robert³,Carey John C.⁴^ORCID,Battaglia Agatino¹⁶^ORCID,López‐Granados Eduardo¹⁷,Douglas Damien¹⁸,Lapunzina Pablo¹²,

Affiliation:

1. Medical and Molecular Genetics Institute (INGEMM) La Paz University Hospital, IdiPAZ Madrid Spain

2. Basic Research Center in the Rare Diseases Network (CIBERER) Madrid Spain

3. Lineagen, Inc. Salt Lake City Utah

4. University of Utah School of Medicine Utah

5. Hopeful Science, Inc. Salt Lake City Utah

6. Institute of Genomic Medicine Catholic University, A. Gemelli Foundation Rome Italy

7. Hospital Universitario Central de Asturias Oviedo Spain

8. Centro de Biología Molecular “Severo Ochoa,” CSIC/UAM Madrid Spain

9. IGBMC, Illkirch‐Graffenstaden Illkirch‐Graffenstaden France

10. Clínica de Terapia Ocupacional Pediátrica Beaudry‐Bellefeuille Oviedo Spain

11. Neuro‐e‐Motion Research Team—University of Deusto Bilbao Spain

12. Facultad de Medicina y Odontología Universidad de Santiago de Compostela Santiago Galicia Spain

13. Centro Logos Madrid Spain

14. 4p‐ Support Group Delaware Ohio

15. University of Colorado Boulder Colorado

16. Department of Developmental Neuroscience IRCCS Stella Maris Foundation Pisa Italy

17. S. Inmunología, HULP Madrid Spain

18. Wolf‐Hirschhorn Syndrome Trust of the UK and Ireland, Dublin UK

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61406

Reference44 articles.

1. Tactile functions. Their relation to hyperactive and perceptual motor behavior;Ayres A. J.;American Journal of Occupational Therapy,1964

2. Interrelation of perception, function, and treatment;Ayres A. J.;Journal of the American Physical Therapy Association,1966

3. De novo loss‐of‐function variants in NSD2 (WHSC1) associate with a subset of Wolf‐ Hirschhorn syndrome;Barrie E. S.;Cold Spring Harbor Molecular Case Studies,2019

4. Wolf-Hirschhorn syndrome: A review and update

5. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Chromosome Disorders;Avery's Diseases of the Newborn;2024

2. Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review;Frontiers in Genetics;2023-06-14

3. Efficacy of Antiseizure Medications in Wolf–Hirschhorn Syndrome;Neuropediatrics;2023-04-19

4. Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review;Seizure;2022-12

5. The cation exchanger Letm1, circadian rhythms, and NAD(H) levels interconnect in diurnal zebrafish;Life Science Alliance;2022-06-13