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Year Number of Results
2006 1
2012 7
2013 9
2014 19
2015 42
2016 44
2017 34
2018 36
2019 10
2020 9
2021 8
2022 3
2023 10
2024 7

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237 results

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Page 1
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Zollino M, et al. Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Clin Genet. 2019. PMID: 30677142 Review.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Levy MA, et al. Hum Mutat. 2022 Nov;43(11):1609-1628. doi: 10.1002/humu.24446. Epub 2022 Aug 21. Hum Mutat. 2022. PMID: 35904121
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. HGG Adv. 2024 Mar 29;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Online ahead of print. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Variants that produce a null allele or disrupt the catalytic domain of either protein cause Rubinstein-Taybi syndrome (RSTS), while pathogenic missense and in-frame indel variants in parts of exons 30 and 31 cause phenotypes recently described as Menke-Hennekam syndrome (M …
Variants that produce a null allele or disrupt the catalytic domain of either protein cause Rubinstein-Taybi syndrome (RSTS), while pathogen …
Efficacy and Safety of Degludec versus Glargine in Type 2 Diabetes.
Marso SP, McGuire DK, Zinman B, Poulter NR, Emerson SS, Pieber TR, Pratley RE, Haahr PM, Lange M, Brown-Frandsen K, Moses A, Skibsted S, Kvist K, Buse JB; DEVOTE Study Group. Marso SP, et al. N Engl J Med. 2017 Aug 24;377(8):723-732. doi: 10.1056/NEJMoa1615692. Epub 2017 Jun 12. N Engl J Med. 2017. PMID: 28605603 Free PMC article. Clinical Trial.
Urologic Diseases and Sexual Dysfunction in Diabetes.
Sarma AV, Townsend MK, Grodstein F, Breyer BN, Brown JS. Sarma AV, et al. In: Cowie CC, Casagrande SS, Menke A, Cissell MA, Eberhardt MS, Meigs JB, Gregg EW, Knowler WC, Barrett-Connor E, Becker DJ, Brancati FL, Boyko EJ, Herman WH, Howard BV, Narayan KMV, Rewers M, Fradkin JE, editors. Diabetes in America. 3rd edition. Bethesda (MD): National Institute of Diabetes and Digestive and Kidney Diseases (US); 2018 Aug. CHAPTER 28. In: Cowie CC, Casagrande SS, Menke A, Cissell MA, Eberhardt MS, Meigs JB, Gregg EW, Knowler WC, Barrett-Connor E, Becker DJ, Brancati FL, Boyko EJ, Herman WH, Howard BV, Narayan KMV, Rewers M, Fradkin JE, editors. Diabetes in America. 3rd edition. Bethesda (MD): National Institute of Diabetes and Digestive and Kidney Diseases (US); 2018 Aug. CHAPTER 28. PMID: 33651533 Free Books & Documents. Review.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Fletcher RS, Cherik F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Pizzi S, Plomp AS, Poulton C, Reilly J, Relator R, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, St John M, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci T, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Kerrnohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Levy MA, et al. HGG Adv. 2021 Dec 3;3(1):100075. doi: 10.1016/j.xhgg.2021.100075. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047860 Free PMC article.
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah VA, Clayton-Smith J. Banka S, et al. Am J Med Genet A. 2019 Jun;179(6):1058-1062. doi: 10.1002/ajmg.a.61131. Epub 2019 Mar 20. Am J Med Genet A. 2019. PMID: 30892814
After the first and last authors of the previous two reports, we propose to call this disorder "Menke-Hennekam syndrome" to establish it as a clinical entity distinct from RTS and to provide a satisfactory name for adoption by parents and professionals, thus facilitating a …
After the first and last authors of the previous two reports, we propose to call this disorder "Menke-Hennekam syndrome" to establish …
Proteome and functional decline as platelets age in the circulation.
Allan HE, Hayman MA, Marcone S, Chan MV, Edin ML, Maffucci T, Joshi A, Menke L, Crescente M, Mayr M, Zeldin DC, Armstrong PC, Warner TD. Allan HE, et al. J Thromb Haemost. 2021 Dec;19(12):3095-3112. doi: 10.1111/jth.15496. Epub 2021 Aug 27. J Thromb Haemost. 2021. PMID: 34390534 Free PMC article.
Observation of Single-Top-Quark Production in Association with a Photon Using the ATLAS Detector.
Aad G, Abbott B, Abbott DC, Abeling K, Abidi SH, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Abusleme Hoffman AC, Acharya BS, Achkar B, Adam L, Adam Bourdarios C, Adamczyk L, Adamek L, Addepalli SV, Adelman J, Adiguzel A, Adorni S, Adye T, Affolder AA, Afik Y, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Aguilar-Saavedra JA, Ahmad A, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aizenberg I, Akbiyik M, Åkesson TPA, Akimov AV, Al Khoury K, Alberghi GL, Albert J, Albicocco P, Alconada Verzini MJ, Alderweireldt S, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi A, Alfonsi F, Alhroob M, Ali B, Ali S, Aliev M, Alimonti G, Allaire C, Allbrooke BMM, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alunno Camelia E, Alvarez Estevez M, Alviggi MG, Amaral Coutinho Y, Ambler A, Amelung C, Ames CG, Amidei D, Amor Dos Santos SP, Amoroso S, Amos KR, Amrouche CS, Ananiev V, Anastopoulos C, Andari N, Andeen T, Anders JK, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Anthony MT, Antipov E, Antonelli M, Antrim DJA, Anulli F, Aoki M, Aparisi Pozo JA, Aparo MA, Aperio Bella L, Appelt C, Aranzabal N, Araujo Ferraz V, Arcangeletti C, Arce ATH, A… See abstract for full author list ➔ Aad G, et al. Phys Rev Lett. 2023 Nov 3;131(18):181901. doi: 10.1103/PhysRevLett.131.181901. Phys Rev Lett. 2023. PMID: 37977601 Free article.
237 results