Approach to the diagnosis of skeletal dysplasias: Experience at a center with limited resources-Reference-Cited by-同舟云学术

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Approach to the diagnosis of skeletal dysplasias: Experience at a center with limited resources

Published:2016-05-24 Issue:9 Volume:44 Page:529-539
ISSN:0091-2751
Container-title:Journal of Clinical Ultrasound
language:en
Short-container-title:J. Clin. Ultrasound

Author:

Kumar Manisha¹,Thakur Seema²,Haldar Arunima³,Anand Rama⁴

Affiliation:

1. Department of Obstetrics and Gynaecology; Lady Hardinge Medical College; Bhagat Singh Marg New Delhi 110001 India

2. Genetics; Fortis La Femme; GK II New Delhi India

3. Department of Obstetrics and Gynecology; Lady Hardinge Medical College; Bhagat Singh Marg New Delhi 110001 India

4. Department of Radiodiagnosis; Lady Hardinge Medical College; Bhagat Singh Marg New Delhi 110001 India

Publisher

Wiley

Subject

Radiology, Nuclear Medicine and imaging

Reference19 articles.

1. Analysis of skeletal dysplasias in the Utah population;Stevenson;Am J Med Genet A,2012

2. Nosology and classification of genetic skeletal disorders: 2010 revision;Warman;Am J Med Genet A,2011

3. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias;Krakow;Genet Med,2009

4. Prenatal sonographic diagnosis of skeletal dysplasias: a report of 47 cases;Doray;Ann Genet,2000

5. Fetal skeletal dysplasia: three-dimensional US---initial experience;Garjian;Radiology,2000

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia;Journal of Clinical Ultrasound;2024-04

2. Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report;Frontiers in Pediatrics;2022-11-18

3. ISUOG Practice Guidelines (updated): performance of the routine mid‐trimester fetal ultrasound scan;Ultrasound in Obstetrics & Gynecology;2022-05-20

4. Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield;Prenatal Diagnosis;2021-06-12

5. Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: A retrospective cohort study;Clinical Genetics;2021-06-09

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