Literature DB >> 30380195

22q11.2 deletion syndrome: A tiny piece leading to a big picture.

Donna M McDonald-McGinn1,2,3,4.   

Abstract

Entities:  

Mesh：

Year:  2018        PMID： 30380195      PMCID： PMC6472263          DOI： 10.1002/ajmg.a.40653

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  20 in total

1.  Congenital absence of the parathyroid glands.

Authors:  D H LOBDELL
Journal:  AMA Arch Pathol       Date:  1959-04

2.  What's in a name? The 22q11.2 deletion.

Authors:  D M McDonald-McGinn; E H Zackai; D Low
Journal:  Am J Med Genet       Date:  1997-10-17

Review 3.  Contiguous gene syndromes: a component of recognizable syndromes.

Authors:  R D Schmickel
Journal:  J Pediatr       Date:  1986-08       Impact factor: 4.406

4.  Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review.

Authors:  Petra C M Buijs; Anne S Bassett; Erik Boot
Journal:  Am J Med Genet A       Date:  2018-01-24       Impact factor: 2.802

5.  Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.

Authors:  Lisa D Palmer; Nancy J Butcher; Erik Boot; Kathleen A Hodgkinson; Tracy Heung; Eva W C Chow; Alina Guna; T Blaine Crowley; Elaine Zackai; Donna M McDonald-McGinn; Anne S Bassett
Journal:  Am J Med Genet A       Date:  2018-04       Impact factor: 2.802

6.  Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

Authors:  D M McDonald-McGinn; D A Driscoll; L Bason; K Christensen; D Lynch; K Sullivan; D Canning; W Zavod; N Quinn; J Rome
Journal:  Am J Med Genet       Date:  1995-10-23

7.  Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

Authors:  J Burn; A Takao; D Wilson; I Cross; K Momma; R Wadey; P Scambler; J Goodship
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

8.  The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

Authors:  R I Kelley; E H Zackai; B S Emanuel; M Kistenmacher; F Greenberg; H H Punnett
Journal:  J Pediatr       Date:  1982-08       Impact factor: 4.406

9.  Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

Authors:  R Matsuoka; A Takao; M Kimura; S Imamura; C Kondo; K Joh-o; K Ikeda; M Nishibatake; M Ando; K Momma
Journal:  Am J Med Genet       Date:  1994-11-15

Review 10.  Practical guidelines for managing adults with 22q11.2 deletion syndrome.

Authors:  Wai Lun Alan Fung; Nancy J Butcher; Gregory Costain; Danielle M Andrade; Erik Boot; Eva W C Chow; Brian Chung; Cheryl Cytrynbaum; Hanna Faghfoury; Leona Fishman; Sixto García-Miñaúr; Susan George; Anthony E Lang; Gabriela Repetto; Andrea Shugar; Candice Silversides; Ann Swillen; Therese van Amelsvoort; Donna M McDonald-McGinn; Anne S Bassett
Journal:  Genet Med       Date:  2015-01-08       Impact factor: 8.822
View more
  4 in total

1.  Medical, welfare, and educational challenges and psychological distress in parents caring for an individual with 22q11.2 deletion syndrome: A cross-sectional survey in Japan.

Authors:  Ryo Morishima; Yousuke Kumakura; Satoshi Usami; Akiko Kanehara; Miho Tanaka; Noriko Okochi; Naomi Nakajima; Junko Hamada; Tomoko Ogawa; Shuntaro Ando; Hidetaka Tamune; Mutsumi Nakahara; Seiichiro Jinde; Yukiko Kano; Kyoko Tanaka; Yoichiro Hirata; Akira Oka; Kiyoto Kasai
Journal:  Am J Med Genet A       Date:  2021-09-03       Impact factor: 2.578

2.  Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center.

Authors:  Marcília Sierro Grassi; Marília Montenegro; Evelin Aline Zanardo; Antonio Carlos Pastorino; Mayra Barros Dorna; Chong Kim; Marcelo Jatene; Nana Miura; Leslie Kulikowski; Magda Carneiro-Sampaio
Journal:  Arq Bras Cardiol       Date:  2022-01       Impact factor: 2.000

3.  De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia.

Authors:  Nuo Si; Zeya Zhang; Xin Huang; Chanchen Wang; Peipei Guo; Bo Pan; Haiyue Jiang
Journal:  Mol Genet Genomic Med       Date:  2021-12-31       Impact factor: 2.183

4.  The Genetic Landscape of Polymicrogyria.

Authors:  Jesmy James; Mary Iype; Mithran Omana Surendran; Ayyappan Anitha; Sanjeev V Thomas
Journal:  Ann Indian Acad Neurol       Date:  2022-05-05       Impact factor: 1.714
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.