Literature DB >> 8950678

Achondrogenesis type 1B.

A Superti-Furga1.   

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Year:  1996        PMID: 8950678      PMCID: PMC1050792          DOI: 10.1136/jmg.33.11.957

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


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  26 in total

1.  [Diastrophic nanism].

Authors:  M LAMY; P MAROTEAUX
Journal:  Presse Med       Date:  1960-11-23       Impact factor: 1.228

2.  Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis.

Authors:  S S Yang; K P Heidelberger; J Bernstein
Journal:  Hum Pathol       Date:  1976-11       Impact factor: 3.466

Review 3.  Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups.

Authors:  Z Borochowitz; R Lachman; G E Adomian; G Spear; K Jones; D L Rimoin
Journal:  J Pediatr       Date:  1988-01       Impact factor: 4.406

4.  [Lethal achondrogenesis: a review of 56 cases (author's transl)].

Authors:  M J Schulte; W Lenz; M Vogel
Journal:  Klin Padiatr       Date:  1978-07       Impact factor: 1.349

5.  Two types of heritable lethal achondrogenesis.

Authors:  S S Yang; A J Brough; G S Garewal; J Bernstein
Journal:  J Pediatr       Date:  1974-12       Impact factor: 4.406

6.  Achondrogenesis in two sibs.

Authors:  F P Urso; M J Urso
Journal:  Birth Defects Orig Artic Ser       Date:  1974

7.  Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias.

Authors:  H R Wiedemann; W Remagen; H A Hienz; R J Gorlin; P Maroteaux
Journal:  Z Kinderheilkd       Date:  1974

8.  Achondrogenesis type I: light and electron-microscopic studies.

Authors:  G Molz; M A Spycher
Journal:  Eur J Pediatr       Date:  1980-06       Impact factor: 3.183

9.  Achondrogenesis: new nosology with evidence of genetic heterogeneity.

Authors:  C B Whitley; R J Gorlin
Journal:  Radiology       Date:  1983-09       Impact factor: 11.105

10.  Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.

Authors:  D R Eyre; M P Upton; F D Shapiro; R H Wilkinson; G F Vawter
Journal:  Am J Hum Genet       Date:  1986-07       Impact factor: 11.025

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  3 in total

Review 1.  Atelosteogenesis type 2.

Authors:  R Newbury-Ecob
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

2.  Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases.

Authors:  Wenbo Wang; Qichang Wu; Li Sun; Xiaohong Zhong; Yasong Xu; Xiaojian Xie; Zhiying Su
Journal:  Case Rep Obstet Gynecol       Date:  2019-07-17

3.  Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias.

Authors:  Chao Zheng; Xisheng Lin; Xiaolong Xu; Cheng Wang; Jinru Zhou; Bo Gao; Jing Fan; Weiguang Lu; Yaqian Hu; Qiang Jie; Zhuojing Luo; Liu Yang
Journal:  EBioMedicine       Date:  2019-01-23       Impact factor: 8.143

  3 in total

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