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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 7, 2024. (Total: 234148Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Syndrome and COL1A1[original query]
[Relations between VDR3 and COL1A1 genes and markers of bone tissue metabolism in patients with chronic obstructive pulmonary disease].
Terapevticheski? arkhiv 2006 78 (3): 17-20.
Gel'tser B I, Kochetkova E A, Grigor'eva O Iu, Al'bavichus S A, Bubnov O
Carpal tunnel syndrome: The role of collagen gene variants.
Gene 2016 Apr .
Dada Suhail, Burger Marilize C, Massij Franka, de Wet Hanli, Collins Malco
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar .
Weerakkody Ruwan A, Vandrovcova Jana, Kanonidou Christina, Mueller Michael, Gampawar Piyush, Ibrahim Yousef, Norsworthy Penny, Biggs Jennifer, Abdullah Abdulshakur, Ross David, Black Holly A, Ferguson David, Cheshire Nicholas J, Kazkaz Hanadi, Grahame Rodney, Ghali Neeti, Vandersteen Anthony, Pope F Michael, Aitman Timothy
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
Bone 2018 3 110 368-377.
Mrosk Julia, Bhavani Gandham SriLakshmi, Shah Hitesh, Hecht Jochen, Krüger Ulrike, Shukla Anju, Kornak Uwe, Girisha Katta Moh
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Prenatal diagnosis 2020 7 40 (10): 1300-1309.
Corsten-Janssen Nicole, Bouman Katelijne, Diphoorn Janouk C D, Scheper Arjen J, Kinds Rianne, El Mecky Julia, Breet Hanna, Verheij Joke B G M, Suijkerbuijk Ron, Duin Leonie K, Manten Gwendolyn T R, van Langen Irene M, Sijmons Rolf H, Sikkema-Raddatz Birgit, Westers Helga, van Diemen Cleo
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
American journal of medical genetics. Part A 2020 2 182 (5): 994-1007.
Ayoub Sandy, Ghali Neeti, Angwin Chloe, Baker Duncan, Baffini Stella, Brady Angela F, Giovannucci Uzielli Maria Luisa, Giunta Cecilia, Johnson Diana S, Kosho Tomoki, Neas Katherine, Pope F Michael, Rutsch Frank, Scarselli Gloria, Sobey Glenda, Vandersteen Anthony, van Dijk Fleur
Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.
The American journal of case reports 2022 5 23 e935526.
Cruz-Centeno Nelimar, Saenz-Maisonet Jean F, López-Dones Paola M, Santiago-Cornier Alberto, Ortiz-Justiniano Victor
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