Etiology
Zhu T,
Tang W,
Feng J;
Chinese Research Group of Hirschsprung Disease
Chin Med J (Engl)
2024 Mar 5;137(5):505-507.
Epub 2024 Feb 1
doi: 10.1097/CM9.0000000000003010.
PMID: 38297440Free PMC Article
Meng Y,
Lu Z,
Zhang XL,
Li LY,
Pan SN
Chin Med J (Engl)
2021 Jun 4;134(13):1619-1621.
doi: 10.1097/CM9.0000000000001583.
PMID: 34091523Free PMC Article
Priolo M,
Schanze D,
Tatton-Brown K,
Mulder PA,
Tenorio J,
Kooblall K,
Acero IH,
Alkuraya FS,
Arias P,
Bernardini L,
Bijlsma EK,
Cole T,
Coubes C,
Dapia I,
Davies S,
Di Donato N,
Elcioglu NH,
Fahrner JA,
Foster A,
González NG,
Huber I,
Iascone M,
Kaiser AS,
Kamath A,
Liebelt J,
Lynch SA,
Maas SM,
Mammì C,
Mathijssen IB,
McKee S,
Menke LA,
Mirzaa GM,
Montgomery T,
Neubauer D,
Neumann TE,
Pintomalli L,
Pisanti MA,
Plomp AS,
Price S,
Salter C,
Santos-Simarro F,
Sarda P,
Segovia M,
Shaw-Smith C,
Smithson S,
Suri M,
Valdez RM,
Van Haeringen A,
Van Hagen JM,
Zollino M,
Lapunzina P,
Thakker RV,
Zenker M,
Hennekam RC
Hum Mutat
2018 Sep;39(9):1226-1237.
Epub 2018 Jun 25
doi: 10.1002/humu.23563.
PMID: 29897170Free PMC Article
Perenack J,
Haggerty C,
Webb D,
Will M
J Oral Maxillofac Surg
2017 Aug;75(8S):e302-e323.
doi: 10.1016/j.joms.2017.04.029.
PMID: 28728734
Garavelli L,
Mainardi PC
Orphanet J Rare Dis
2007 Oct 24;2:42.
doi: 10.1186/1750-1172-2-42.
PMID: 17958891Free PMC Article
Diagnosis
Zhu T,
Tang W,
Feng J;
Chinese Research Group of Hirschsprung Disease
Chin Med J (Engl)
2024 Mar 5;137(5):505-507.
Epub 2024 Feb 1
doi: 10.1097/CM9.0000000000003010.
PMID: 38297440Free PMC Article
Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P
Genes (Basel)
2023 Aug 23;14(9)
doi: 10.3390/genes14091664.
PMID: 37761804Free PMC Article
Poling MI,
Dufresne CR,
Chamberlain RL
Orphanet J Rare Dis
2019 Jan 10;14(1):14.
doi: 10.1186/s13023-018-0984-2.
PMID: 30630514Free PMC Article
Priolo M,
Schanze D,
Tatton-Brown K,
Mulder PA,
Tenorio J,
Kooblall K,
Acero IH,
Alkuraya FS,
Arias P,
Bernardini L,
Bijlsma EK,
Cole T,
Coubes C,
Dapia I,
Davies S,
Di Donato N,
Elcioglu NH,
Fahrner JA,
Foster A,
González NG,
Huber I,
Iascone M,
Kaiser AS,
Kamath A,
Liebelt J,
Lynch SA,
Maas SM,
Mammì C,
Mathijssen IB,
McKee S,
Menke LA,
Mirzaa GM,
Montgomery T,
Neubauer D,
Neumann TE,
Pintomalli L,
Pisanti MA,
Plomp AS,
Price S,
Salter C,
Santos-Simarro F,
Sarda P,
Segovia M,
Shaw-Smith C,
Smithson S,
Suri M,
Valdez RM,
Van Haeringen A,
Van Hagen JM,
Zollino M,
Lapunzina P,
Thakker RV,
Zenker M,
Hennekam RC
Hum Mutat
2018 Sep;39(9):1226-1237.
Epub 2018 Jun 25
doi: 10.1002/humu.23563.
PMID: 29897170Free PMC Article
Wu QY,
Li DH,
Xue H,
Xu ZH,
Li HY,
Zhang MK
Chin Med J (Engl)
2016 Oct 5;129(19):2381-3.
doi: 10.4103/0366-6999.190663.
PMID: 27647199Free PMC Article
Therapy
Bateman RJ,
Smith J,
Donohue MC,
Delmar P,
Abbas R,
Salloway S,
Wojtowicz J,
Blennow K,
Bittner T,
Black SE,
Klein G,
Boada M,
Grimmer T,
Tamaoka A,
Perry RJ,
Turner RS,
Watson D,
Woodward M,
Thanasopoulou A,
Lane C,
Baudler M,
Fox NC,
Cummings JL,
Fontoura P,
Doody RS;
GRADUATE I and II Investigators and the Gantenerumab Study Group
N Engl J Med
2023 Nov 16;389(20):1862-1876.
doi: 10.1056/NEJMoa2304430.
PMID: 37966285Free PMC Article
Warady BA,
Pergola PE,
Agarwal R,
Andreoli S,
Appel GB,
Bangalore S,
Block GA,
Chapman AB,
Chin MP,
Gibson KL,
Goldsberry A,
Iijima K,
Inker LA,
Kashtan CE,
Knebelmann B,
Mariani LH,
Meyer CJ,
Nozu K,
O'Grady M,
Rheault MN,
Silva AL,
Stenvinkel P,
Torra R,
Chertow GM
Clin J Am Soc Nephrol
2022 Dec;17(12):1763-1774.
Epub 2022 Nov 21
doi: 10.2215/CJN.02400222.
PMID: 36411058Free PMC Article
Chin CY,
Huang SC,
Wang JK,
Chen CA
Eur Heart J
2021 May 21;42(20):2022.
doi: 10.1093/eurheartj/ehaa887.
PMID: 33205149
Devinsky O,
Patel AD,
Thiele EA,
Wong MH,
Appleton R,
Harden CL,
Greenwood S,
Morrison G,
Sommerville K;
GWPCARE1 Part A Study Group
Neurology
2018 Apr 3;90(14):e1204-e1211.
Epub 2018 Mar 14
doi: 10.1212/WNL.0000000000005254.
PMID: 29540584Free PMC Article
Devinsky O,
Cross JH,
Laux L,
Marsh E,
Miller I,
Nabbout R,
Scheffer IE,
Thiele EA,
Wright S;
Cannabidiol in Dravet Syndrome Study Group
N Engl J Med
2017 May 25;376(21):2011-2020.
doi: 10.1056/NEJMoa1611618.
PMID: 28538134
Prognosis
Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P
Genes (Basel)
2023 Aug 23;14(9)
doi: 10.3390/genes14091664.
PMID: 37761804Free PMC Article
Meng Y,
Lu Z,
Zhang XL,
Li LY,
Pan SN
Chin Med J (Engl)
2021 Jun 4;134(13):1619-1621.
doi: 10.1097/CM9.0000000000001583.
PMID: 34091523Free PMC Article
Chin OY,
Tollefson TT
Facial Plast Surg
2017 Dec;33(6):643-652.
Epub 2017 Dec 1
doi: 10.1055/s-0037-1608710.
PMID: 29195246
Ryan TD,
Chin C
Semin Pediatr Surg
2017 Aug;26(4):206-212.
Epub 2017 Jul 26
doi: 10.1053/j.sempedsurg.2017.07.012.
PMID: 28964475
Garavelli L,
Mainardi PC
Orphanet J Rare Dis
2007 Oct 24;2:42.
doi: 10.1186/1750-1172-2-42.
PMID: 17958891Free PMC Article
Clinical prediction guides
Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P
Genes (Basel)
2023 Aug 23;14(9)
doi: 10.3390/genes14091664.
PMID: 37761804Free PMC Article
Poling MI,
Dufresne CR,
Chamberlain RL
Orphanet J Rare Dis
2019 Jan 10;14(1):14.
doi: 10.1186/s13023-018-0984-2.
PMID: 30630514Free PMC Article
Ryan TD,
Chin C
Semin Pediatr Surg
2017 Aug;26(4):206-212.
Epub 2017 Jul 26
doi: 10.1053/j.sempedsurg.2017.07.012.
PMID: 28964475
Garavelli L,
Mainardi PC
Orphanet J Rare Dis
2007 Oct 24;2:42.
doi: 10.1186/1750-1172-2-42.
PMID: 17958891Free PMC Article
Slavotinek A,
Shaffer LG,
Shapira SK
J Med Genet
1999 Sep;36(9):657-63.
PMID: 10507720Free PMC Article