Literature DB >> 3950944

Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25.

S A Al-Awadi, K K Naguib, T I Farag, A S Teebi, A Cuschieri, S A Al-Othman, T S Sundareshan.   

Abstract

Mesh：

Year:  1986        PMID： 3950944      PMCID： PMC1049553          DOI： 10.1136/jmg.23.1.91

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  1 in total

1.  Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring.

Authors:  R A Williamson; M A Donlan; C R Dolan; H C Thuline; M T Harrison; J G Hall
Journal:  Am J Med Genet       Date:  1981
  1 in total
  9 in total

1.  RBX2 maintains final retinal cell position in a DAB1-dependent and -independent fashion.

Authors:  Corinne L Fairchild; Keiko Hino; Jisoo S Han; Adam M Miltner; Gabriel Peinado Allina; Caileigh E Brown; Marie E Burns; Anna La Torre; Sergi Simó
Journal:  Development       Date:  2018-02-02       Impact factor: 6.868

2.  Interstitial deletion of band 3q25.

Authors:  A M Slavotinek; S M Huson; M Fitchett
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

3.  Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).

Authors:  J Wolstenholme; J Brown; K G Masters; C Wright; C J English
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

4.  A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.

Authors:  P Amati; J C Chomel; A Nivelon-Chevalier; S Gilgenkrantz; A Kitzis; J Kaplan; D Bonneau
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

5.  Deletion 3q27----3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions.

Authors:  I Jokiaho; A Salo; K M Niemi; G C Blomstedt; J Pihkala
Journal:  Hum Genet       Date:  1989-10       Impact factor: 4.132

6.  Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay.

Authors:  Marwan K Tayeh; Tracy Rocco; Todd Ackley; Leslie Ernst; Thomas Glover; Jeffrey W Innis
Journal:  Clin Case Rep       Date:  2015-04-09

7.  Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB.

Authors:  Yu-Tzu Chang; Chung-Hsing Wang; I-Ching Chou; Wei-De Lin; Siew-Yin Chee; Huang-Tsung Kuo; Fuu-Jen Tsai
Journal:  Biomedicine (Taipei)       Date:  2014-08-06

Review 8.  Wisconsin syndrome with brain volume laterality: a case report and review of the literature.

Authors:  Satomi Okano; Yoshio Makita; Kayano Kimura; Ikue Fukuda; Akie Miyamoto; Hajime Tanaka
Journal:  J Med Case Rep       Date:  2022-04-16

9.  Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.

Authors:  Alessandro Ferraris; Laura Bernardini; Vesna Sabolic Avramovska; Ginevra Zanni; Sara Loddo; Elena Sukarova-Angelovska; Valentina Parisi; Anna Capalbo; Stefano Tumini; Lorena Travaglini; Francesca Mancini; Filip Duma; Sabina Barresi; Antonio Novelli; Eugenio Mercuri; Luigi Tarani; Enrico Bertini; Bruno Dallapiccola; Enza Maria Valente
Journal:  Orphanet J Rare Dis       Date:  2013-05-16       Impact factor: 4.123
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.