Literature DB >> 35302317

亚平 沈, 真真 胡, 建滨 杨, 茹莱 杨, 新文 黄.   

Abstract

cblX，，。，-，c.202C>G（p.Q68E），。.

Entities:  

Keywords:  Case reports; Diagnosis; Homocysteinemia cblX type; Metabolism, inborn errors; Methylmalonic acidemia; Tandem mass spectrometry; Ultrahigh performance liquid chromatography

Year:  2021        PMID： 35302317      PMCID： PMC8931597          DOI： 10.3724/zdxbyxb-2021-0262

Source DB:  PubMed          Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban        ISSN： 1008-9292


  10 in total

1.  Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Authors:  A Piton; J Gauthier; F F Hamdan; R G Lafrenière; Y Yang; E Henrion; S Laurent; A Noreau; P Thibodeau; L Karemera; D Spiegelman; F Kuku; J Duguay; L Destroismaisons; P Jolivet; M Côté; K Lachapelle; O Diallo; A Raymond; C Marineau; N Champagne; L Xiong; C Gaspar; J-B Rivière; J Tarabeux; P Cossette; M-O Krebs; J L Rapoport; A Addington; L E Delisi; L Mottron; R Joober; E Fombonne; P Drapeau; G A Rouleau
Journal:  Mol Psychiatry       Date:  2010-05-18       Impact factor: 15.992

2.  Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

Authors:  Anita M Quintana; Hung-Chun Yu; Alison Brebner; Mihaela Pupavac; Elizabeth A Geiger; Abigail Watson; Victoria L Castro; Warren Cheung; Shu-Huang Chen; David Watkins; Tomi Pastinen; Flemming Skovby; Bruce Appel; David S Rosenblatt; Tamim H Shaikh
Journal:  Hum Mol Genet       Date:  2017-08-01       Impact factor: 6.150

3.  An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

Authors:  Hung-Chun Yu; Jennifer L Sloan; Gunter Scharer; Alison Brebner; Anita M Quintana; Nathan P Achilly; Irini Manoli; Curtis R Coughlin; Elizabeth A Geiger; Una Schneck; David Watkins; Terttu Suormala; Johan L K Van Hove; Brian Fowler; Matthias R Baumgartner; David S Rosenblatt; Charles P Venditti; Tamim H Shaikh
Journal:  Am J Hum Genet       Date:  2013-09-05       Impact factor: 11.025

4.  HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Authors:  Lachlan A Jolly; Lam Son Nguyen; Deepti Domingo; Ying Sun; Simon Barry; Miroslava Hancarova; Pavlina Plevova; Marketa Vlckova; Marketa Havlovicova; Vera M Kalscheuer; Claudio Graziano; Tommaso Pippucci; Elena Bonora; Zdenek Sedlacek; Jozef Gecz
Journal:  Hum Mol Genet       Date:  2015-03-03       Impact factor: 6.150

5.  X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.

Authors:  Emmanuel Scalais; Elise Osterheld; Christiane Weitzel; Linda De Meirleir; Frederic Mataigne; Geert Martens; Tamim H Shaikh; Curtis R Coughlin; Hung-Chun Yu; Michael Swanson; Marisa W Friederich; Gunter Scharer; Daniel Helbling; Jamie Wendt-Andrae; Johan L K Van Hove
Journal:  Pediatr Neurol       Date:  2017-01-07       Impact factor: 3.372

6.  A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.

Authors:  Costas Koufaris; Angelos Alexandrou; George A Tanteles; Violetta Anastasiadou; Carolina Sismani
Journal:  Biomed Rep       Date:  2015-12-18

7.  Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

Authors:  M Gérard; G Morin; A Bourillon; C Colson; S Mathieu; D Rabier; T Billette de Villemeur; H Ogier de Baulny; J F Benoist
Journal:  Eur J Med Genet       Date:  2015-01-13       Impact factor: 2.708

8.  A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

Authors:  Lingli Huang; Lachlan A Jolly; Saffron Willis-Owen; Alison Gardner; Raman Kumar; Evelyn Douglas; Cheryl Shoubridge; Dagmar Wieczorek; Andreas Tzschach; Monika Cohen; Anna Hackett; Michael Field; Guy Froyen; Hao Hu; Stefan A Haas; Hans-Hilger Ropers; Vera M Kalscheuer; Mark A Corbett; Jozef Gecz
Journal:  Am J Hum Genet       Date:  2012-09-20       Impact factor: 11.025

9.  The role of HCFC1 in syndromic and non-syndromic intellectual disability.

Authors:  Victoria L Castro; Anita M Quintana
Journal:  Med Res Arch       Date:  2020-06-18

10.  A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Authors:  Patrick S Tarpey; Raffaella Smith; Erin Pleasance; Annabel Whibley; Sarah Edkins; Claire Hardy; Sarah O'Meara; Calli Latimer; Ed Dicks; Andrew Menzies; Phil Stephens; Matt Blow; Chris Greenman; Yali Xue; Chris Tyler-Smith; Deborah Thompson; Kristian Gray; Jenny Andrews; Syd Barthorpe; Gemma Buck; Jennifer Cole; Rebecca Dunmore; David Jones; Mark Maddison; Tatiana Mironenko; Rachel Turner; Kelly Turrell; Jennifer Varian; Sofie West; Sara Widaa; Paul Wray; Jon Teague; Adam Butler; Andrew Jenkinson; Mingming Jia; David Richardson; Rebecca Shepherd; Richard Wooster; M Isabel Tejada; Francisco Martinez; Gemma Carvill; Rene Goliath; Arjan P M de Brouwer; Hans van Bokhoven; Hilde Van Esch; Jamel Chelly; Martine Raynaud; Hans-Hilger Ropers; Fatima E Abidi; Anand K Srivastava; James Cox; Ying Luo; Uma Mallya; Jenny Moon; Josef Parnau; Shehla Mohammed; John L Tolmie; Cheryl Shoubridge; Mark Corbett; Alison Gardner; Eric Haan; Sinitdhorn Rujirabanjerd; Marie Shaw; Lucianne Vandeleur; Tod Fullston; Douglas F Easton; Jackie Boyle; Michael Partington; Anna Hackett; Michael Field; Cindy Skinner; Roger E Stevenson; Martin Bobrow; Gillian Turner; Charles E Schwartz; Jozef Gecz; F Lucy Raymond; P Andrew Futreal; Michael R Stratton
Journal:  Nat Genet       Date:  2009-04-19       Impact factor: 38.330
  10 in total

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