Search Results - "Signer RH"

Genome-wide association studies of binge eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

Authors: Termorshuizen JD Davies HL Lee SH et al.

Corporate Authors: Termorshuizen JD Davies HL Lee SH et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 May 08. Date of Electronic Publication: 2025 May 08.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy.

Authors: Sakpichaisakul, Kullasate Boonkrongsak, Rachata Lertbutsayanukul, Punjama et al.

Source: BMC Neurology. 12/9/2022, Vol. 22 Issue 1, p1-9. 9p.

RNA modifications and cancer ferroptosis.

Authors: Xie Y Sun B Chen W et al.

Source: Cancer cell international [Cancer Cell Int] 2026 Mar 28; Vol. 26 (1). Date of Electronic Publication: 2026 Mar 28.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101139795 Publication Model: Electronic Cited Medium: Print ISSN: 1475-2867 (Print) Linking ISSN: 14752867 NLM ISO Abbreviation: Cancer Cell Int Subsets: PubMed not MEDLINE

Genome Editing for Fertility: Unlocking the Promise of CRISPR/Cas9 in Addressing Male Infertility - A Narrative Review.

Authors: Kumar N; Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, Bibinagar, Hyderabad, Telangana, 508126, India. drnainakumar@gmail.com.

Source: Reproductive sciences (Thousand Oaks, Calif.) [Reprod Sci] 2025 Oct; Vol. 32 (10), pp. 3221-3239. Date of Electronic Publication: 2025 Sep 02.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101291249 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-7205 (Electronic) Linking ISSN: 19337191 NLM ISO Abbreviation: Reprod Sci Subsets: MEDLINE

Neuro2D Lies at the Nexus of Autism, Epilepsy, and Intellectual Disabilities.

Authors: Bordey, Angelique (AUTHOR)

Source: Epilepsy Currents. Mar2022, Vol. 22 Issue 2, p132-134. 3p.

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Cohesin in DNA damage response and double-strand break repair.

Authors: Hou, Wenya Li, Yan Zhang, Jiaxin et al.

Source: Critical Reviews in Biochemistry & Molecular Biology. Jun2022, Vol. 57 Issue 3, p333-350. 18p.

Cohesin - bridging the gap among gene transcription, genome stability, and human diseases.

Authors: Di Nardo M Musio A

Source: FEBS letters [FEBS Lett] 2025 Jan; Vol. 599 (2), pp. 190-208. Date of Electronic Publication: 2024 Jun 09.

Publication Type: Journal Article; Review

Journal Info: Publisher: John Wiley & Sons Ltd Country of Publication: England NLM ID: 0155157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3468 (Electronic) Linking ISSN: 00145793 NLM ISO Abbreviation: FEBS Lett Subsets: MEDLINE

Auricular fistula: a review of its clinical manifestations, genetics, and treatments.

Authors: Yuan L Yang R Deng H

Source: Journal of molecular medicine (Berlin, Germany) [J Mol Med (Berl)] 2023 Sep; Vol. 101 (9), pp. 1041-1058. Date of Electronic Publication: 2023 Jul 17.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 9504370 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1440 (Electronic) Linking ISSN: 09462716 NLM ISO Abbreviation: J Mol Med (Berl) Subsets: MEDLINE

Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant.

Authors: Funato M Uehara T Okada Y et al.

Source: Congenital anomalies [Congenit Anom (Kyoto)] 2022 Mar; Vol. 62 (2), pp. 82-83. Date of Electronic Publication: 2021 Dec 30.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1741-4520 (Electronic) Linking ISSN: 09143505 NLM ISO Abbreviation: Congenit Anom (Kyoto) Subsets: MEDLINE

Chromosome loading of cohesin depends on conserved residues in Scc3.

Authors: Pathania A Liu W Matityahu A et al.

Source: Current genetics [Curr Genet] 2021 Jun; Vol. 67 (3), pp. 447-459. Date of Electronic Publication: 2021 Jan 06.

Publication Type: Journal Article

Journal Info: Publisher: Springer International Country of Publication: United States NLM ID: 8004904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0983 (Electronic) Linking ISSN: 01728083 NLM ISO Abbreviation: Curr Genet Subsets: MEDLINE

Genetic basis of mitochondrial diseases.

Authors: Gusic M Prokisch H

Source: FEBS letters [FEBS Lett] 2021 Apr; Vol. 595 (8), pp. 1132-1158. Date of Electronic Publication: 2021 Mar 21.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: John Wiley & Sons Ltd Country of Publication: England NLM ID: 0155157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3468 (Electronic) Linking ISSN: 00145793 NLM ISO Abbreviation: FEBS Lett Subsets: MEDLINE

Event Representation in Language and Cognition

Authors: Jürgen Bohnemeyer Eric Pederson

Resource Type: eBook.

Subjects: Events (Philosophy), Semantics, Grammar, Comparative and general--Syntax

Categories: LANGUAGE ARTS & DISCIPLINES / Linguistics / Semantics

Toward transcriptomics as a primary tool for rare disease investigation.

Authors: Montgomery SB Bernstein JA Wheeler MT

Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2022 Mar 24; Vol. 8 (2). Date of Electronic Publication: 2022 Mar 24 (Print Publication: 2022).

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

Use of RNA‑sequencing to detect abnormal transcription of the collagen α‑2 (VI) chain gene that can lead to Bethlem myopathy.

Authors: Zhong J Xie Y Dang Y et al.

Source: International journal of molecular medicine [Int J Mol Med] 2021 Mar; Vol. 47 (3). Date of Electronic Publication: 2021 Feb 04.

Publication Type: Journal Article

Journal Info: Publisher: D.A. Spandidos Country of Publication: Greece NLM ID: 9810955 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1791-244X (Electronic) Linking ISSN: 11073756 NLM ISO Abbreviation: Int J Mol Med Subsets: MEDLINE

Another case of holoprosencephaly associated with RAD21 loss-of-function variant.

Authors: Goel H Parasivam G

Source: Brain : a journal of neurology [Brain] 2020 Aug 01; Vol. 143 (8), pp. e64.

Publication Type: Letter; Comment

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Authors: Maddirevula S Kuwahara H Ewida N et al.

Source: Genome biology [Genome Biol] 2020 Jun 17; Vol. 21 (1), pp. 145. Date of Electronic Publication: 2020 Jun 17.

Publication Type: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Authors: Krab LC Marcos-Alcalde I Assaf M et al.

Source: Human genetics [Hum Genet] 2020 May; Vol. 139 (5), pp. 575-592. Date of Electronic Publication: 2020 Mar 19.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

The expanding phenotypes of cohesinopathies: one ring to rule them all!

Authors: Piché J Van Vliet PP Pucéat M et al.

Source: Cell cycle (Georgetown, Tex.) [Cell Cycle] 2019 Nov; Vol. 18 (21), pp. 2828-2848. Date of Electronic Publication: 2019 Sep 13.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101137841 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1551-4005 (Electronic) Linking ISSN: 15514005 NLM ISO Abbreviation: Cell Cycle Subsets: MEDLINE

Cohesin complex-associated holoprosencephaly.

Authors: Kruszka P Berger SI Casa V et al.

Source: Brain : a journal of neurology [Brain] 2019 Sep 01; Vol. 142 (9), pp. 2631-2643.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE