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Items: 15

Select item 97275781.

Surgical Reconstruction Options for a Case of Near Total Intestinal Aganglionosis

Raymond I Okeke, Christian Saliba, Diana Fan, Justin Lok, Catherine O'Leary, Maaria Chaudhry, Justin Sobrino, Shin Miyata, Christopher Blewett

Cureus. 2022 Nov; 14(11): e31181. Published online 2022 Nov 7. doi: 10.7759/cureus.31181

PMCID:: PMC9727578

Abstract Article PDF–400K

Select item 55934812.

Familial Near-Total Intestinal Aganglionosis

Hidouri Saida, Zitouni Hayet, Chahed Jamila, Mosbahi Sana, Belhassen Samia, Ksiaa Amine, Hmida Badii, Krichene Imed, Sahnoun Lassad, Mekki Mongi, Belguith Mohsen, Nouri Abdellatif

J Neonatal Surg. 2017 Jul-Sep; 6(3): 62. Published online 2017 Aug 10. doi: 10.21699/jns.v6i3.562

PMCID:: PMC5593481

Abstract Article PDF–615K

Select item 15448253.

Total intestinal aganglionosis. An autosomal recessive condition?

A E MacKinnon, S J Cohen

Arch Dis Child. 1977 Nov; 52(11): 898–899. doi: 10.1136/adc.52.11.898

PMCID:: PMC1544825

Summary Page Browse PDF–301K

Select item 12430074.

Extended myectomy-myotomy. A therapeutic alternative for total intestinal aganglionosis.

M M Ziegler, R E Royal, J Brandt, J Drasnin, L W Martin

Ann Surg. 1993 Oct; 218(4): 504–511. doi: 10.1097/00000658-199310000-00010

PMCID:: PMC1243007

Summary Page Browse PDF–1.0M

Select item 16283615.

Waardenburg's syndrome associated with total aganglionosis.

P A Farndon, A Bianchi

Arch Dis Child. 1983 Nov; 58(11): 932–933. doi: 10.1136/adc.58.11.932

PMCID:: PMC1628361

Summary Page Browse PDF–210K

Select item 14589946.

Expression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung disease genes

Tiffany A. Heanue, Vassilis Pachnis

Proc Natl Acad Sci U S A. 2006 May 2; 103(18): 6919–6924. Published online 2006 Apr 21. doi: 10.1073/pnas.0602152103

PMCID:: PMC1458994

Abstract Article PDF–1.2M

Select item 83840457.

New Insights Into the Indications for Intestinal Transplantation: Consensus in the Year 2019

Stuart S. Kaufman, Yaron Avitzur, Sue V. Beath, Laurens J. Ceulemans, Gabriel E. Gondolesi, George V. Mazariegos, Loris Pironi

Transplantation. Author manuscript; available in PMC 2021 Aug 24.

Published in final edited form as: Transplantation. 2020 May; 104(5): 937–946. doi: 10.1097/TP.0000000000003065

PMCID:: PMC8384045

Abstract Article PDF–258K

Select item 69791138.

Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan

Taimoor Ashraf Khan, C. Aqeel Safdar, Shehryar Zameer, Arshad Khushdil

Perioper Med (Lond) 2020; 9: 4. Published online 2020 Jan 24. doi: 10.1186/s13741-019-0135-x

PMCID:: PMC6979113

Abstract Article PDF–457K

Select item 55777479.

Hemophagocytic lymphohistiocytosis presenting in a pediatric patient with near total colonic and small bowel aganglionosis: a case report

Brittany Badal, Michael J. Wilsey, Sara Karjoo

J Med Case Rep. 2017; 11: 244. Published online 2017 Aug 31. doi: 10.1186/s13256-017-1390-4

PMCID:: PMC5577747

Abstract Article PDF–370K

Select item 822891110.

A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy

Nozomu Matsuda, Koushi Ootsuki, Shunsuke Kobayashi, Ayaka Nemoto, Hitoshi Kubo, Shin-ichi Usami, Kazuaki Kanani

BMC Neurol. 2021; 21: 243. Published online 2021 Jun 25. doi: 10.1186/s12883-021-02256-y

PMCID:: PMC8228911

Abstract Article PDF–1.6M

Select item 692992011.

‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations

Svetlana Vakkilainen, Alice Costantini, Mervi Taskinen, Ulla Wartiovaara-Kautto, Outi Mäkitie

J Med Genet. 2020 Jan; 57(1): 18–22. Published online 2019 Aug 14. doi: 10.1136/jmedgenet-2019-106131

PMCID:: PMC6929920

Abstract Article PDF–428K

Select item 632386512.

Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease

Gunadi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Wiwid Santiko, Fuad Dheni Musthofa, Kristy Iskandar, Akhmad Makhmudi

Orphanet J Rare Dis. 2019; 14: 5. Published online 2019 Jan 7. doi: 10.1186/s13023-018-0973-5

PMCID:: PMC6323865

Abstract Article PDF–714K

Select item 597418513.

Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing

Clara SM Tang, Xuehan Zhuang, Wai-Yee Lam, Elly Sau-Wai Ngan, Jacob Shujui Hsu, YU Michelle, SO Man-Ting, Stacey S Cherny, Ngoc Diem Ngo, Pak C Sham, Paul KH Tam, Maria-Mercè Garcia-Barcelo

Eur J Hum Genet. 2018 Jun; 26(6): 818–826. Published online 2018 Feb 26. doi: 10.1038/s41431-018-0129-z

PMCID:: PMC5974185

Abstract Article PDF–764K

Select item 445983514.

SLIT2/ROBO1-miR-218-1-RET/PLAG1: a new disease pathway involved in Hirschsprung's disease

Weibing Tang, Junwei Tang, Jun He, Zhigang Zhou, Yufeng Qin, Jingjing Qin, Bo Li, Xiaoqun Xu, Qiming Geng, Weiwei Jiang, Wei Wu, Xinru Wang, Yankai Xia

J Cell Mol Med. 2015 Jun; 19(6): 1197–1207. Published online 2015 Mar 19. doi: 10.1111/jcmm.12454

Correction in:: J Cell Mol Med. 2020 May; 24(9): 5402–5403.

PMCID:: PMC4459835

Abstract Article PDF–1.5M

Select item 402321615.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

Denise Horn, Dagmar Wieczorek, Kay Metcalfe, Ivo Barić, Lidija Paležac, Mario Ćuk, Danijela Petković Ramadža, Ulrike Krüger, Stephanie Demuth, Wolfram Heinritz, Tobias Linden, Jens Koenig, Peter N Robinson, Peter Krawitz

Eur J Hum Genet. 2014 Jun; 22(6): 762–767. Published online 2013 Oct 16. doi: 10.1038/ejhg.2013.241