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2002 2
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2008 4
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2011 1
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68 results

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Page 1
Wolf-Hirschhorn syndrome: A review and update.
Battaglia A, Carey JC, South ST. Battaglia A, et al. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):216-23. doi: 10.1002/ajmg.c.31449. Epub 2015 Aug 4. Am J Med Genet C Semin Med Genet. 2015. PMID: 26239400 Review.
Since 4p- was first described in 1961, significant progress has been made in our understanding of this classic deletion disorder. We have been able to establish a more complete picture of the WHS phenotype associated with distal 4p monosomy, and we are workin …
Since 4p- was first described in 1961, significant progress has been made in our understanding of this classic deletion disorder. We …
Epigenetics.
Jain R, Epstein JA. Jain R, et al. Adv Exp Med Biol. 2024;1441:341-364. doi: 10.1007/978-3-031-44087-8_18. Adv Exp Med Biol. 2024. PMID: 38884720 Review.
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. Paprocka J, et al. Seizure. 2024 Mar;116:14-23. doi: 10.1016/j.seizure.2022.12.001. Epub 2022 Dec 8. Seizure. 2024. PMID: 36526544 Review.
Wolf-Hirschhorn syndrome (WHS) is araredisorderwithan estimated prevalence being around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region (Wolf-Hirschhorn Syndrome Critical region- WHSCR) on chromosome
Wolf-Hirschhorn syndrome (WHS) is araredisorderwithan estimated prevalence being around 1 in 50,000 births. The synd
Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.
Tang F, Zeng Y, Wang L, Yin D, Chen L, Xie D, Wang J. Tang F, et al. Mol Genet Genomic Med. 2023 Jun;11(6):e2155. doi: 10.1002/mgg3.2155. Epub 2023 Feb 27. Mol Genet Genomic Med. 2023. PMID: 36849216 Free PMC article. Review.
OBJECTIVE: Wolf-Hirschhorn syndrome (WHS) is a congenital malformation syndrome with poor prognosis. ...
OBJECTIVE: Wolf-Hirschhorn syndrome (WHS) is a congenital malformation syndrome with poor prognosis. ...
PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW.
Puvabanditsin S, Herrera-Garcia G, Gengel N, Hussein K, February M, Mayne J, Mehta R. Puvabanditsin S, et al. Genet Couns. 2016;27(1):35-41. Genet Couns. 2016. PMID: 27192890 Review.
We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of the short arm of chromosome 4, intrauterine growth retardation, and multiple anomalies including microcephaly, colpocephaly, absent corpus c …
We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of …
Epigenetic Deregulation in Human Primary Immunodeficiencies.
Campos-Sanchez E, Martínez-Cano J, Del Pino Molina L, López-Granados E, Cobaleda C. Campos-Sanchez E, et al. Trends Immunol. 2019 Jan;40(1):49-65. doi: 10.1016/j.it.2018.11.005. Epub 2018 Nov 30. Trends Immunol. 2019. PMID: 30509895 Free article. Review.
Epigenetic control is essential for immune functions, and epigenetic alterations have been identified in different PIDs, including syndromes such as immunodeficiency-centromeric-instability-facial-anomalies, Kabuki, or Wolf-Hirschhorn, among others. Although the epi …
Epigenetic control is essential for immune functions, and epigenetic alterations have been identified in different PIDs, including syndromes …
[The Wolf-Hirschhorn Syndrome].
Friebe-Hoffmann U, Reister F, Gaspar H, Hummler H, Lindner W, Lato K. Friebe-Hoffmann U, et al. Z Geburtshilfe Neonatol. 2016 Oct;220(5):195-199. doi: 10.1055/s-0042-107084. Epub 2016 May 20. Z Geburtshilfe Neonatol. 2016. PMID: 27203859 Review. German.
Wolf-Hirschhorn syndrome (WHS) represents a complex developmental disorder characterized by craniofacial dysmorphism, short stature, hypotonia, psychomotor retardation and seizures caused by a terminal deletion of the short arm of chromosome 4. ...
Wolf-Hirschhorn syndrome (WHS) represents a complex developmental disorder characterized by craniofacial dysmorphism, s
Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.
Battaglia A, Calhoun ARUL, Lortz A, Carey JC. Battaglia A, et al. Am J Med Genet A. 2018 Nov;176(11):2389-2394. doi: 10.1002/ajmg.a.40469. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289612 Review.
Wolf-Hirschhorn syndrome (WHS) is a rare contiguous gene deletion disorder characterized by distinctive craniofacial features, prenatal/postnatal growth deficiency, intellectual disability, and seizures. ...
Wolf-Hirschhorn syndrome (WHS) is a rare contiguous gene deletion disorder characterized by distinctive craniofacial fe
LETM1: Essential for Mitochondrial Biology and Cation Homeostasis?
Austin S, Nowikovsky K. Austin S, et al. Trends Biochem Sci. 2019 Aug;44(8):648-658. doi: 10.1016/j.tibs.2019.04.002. Epub 2019 May 14. Trends Biochem Sci. 2019. PMID: 31101453 Free article. Review.
In this Opinion, we report and discuss recent findings on LETM1 structure, essentiality, and function and its involvement in Wolf-Hirschhorn syndrome (WHS) and seizures....
In this Opinion, we report and discuss recent findings on LETM1 structure, essentiality, and function and its involvement in Wolf- …
Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome.
Battaglia A, Carey JC. Battaglia A, et al. Am J Med Genet. 1998 Feb 17;75(5):541. doi: 10.1002/(sici)1096-8628(19980217)75:5<541::aid-ajmg18>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9489803 Review. No abstract available.
68 results