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About 97 results

ALLMedicine™ Achondrogenesis Center

Research & Reviews  47 results

Description of four patients with TRIP11 variants expand the clinical spectrum of odont...
https://doi.org/10.1016/j.ejmg.2021.104198
European Journal of Medical Genetics; Del Pino M, Sanchez-Soler MJ et. al.

Mar 22nd, 2021 - More than two decades since the first clinical and radiological description of odontochondroplasia (ODCD) was reported, biallelic loss of function variants in the Thyroid hormone receptor interactor 11 gene (TRIP11) were identified, the same gene ...

Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computeriz...
https://doi.org/10.1016/j.clinimag.2020.10.013
Clinical Imaging; Bisht RU, Belthur MV et. al.

Oct 18th, 2020 - We present a case of hypochondrogenesis, a rare autosomal dominant skeletal dysplasia that often results in infant death shortly after birth. Hypochondrogenesis can present similarly to other skeletal dysplasia diseases, notably achondrogenesis ty...

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontoc...
https://doi.org/10.1002/ajmg.a.61460
American Journal of Medical Genetics. Part A; Medina CTN, Sandoval R et. al.

Jan 6th, 2020 - The thyroid hormone receptor interactor 11 (TRIP11) gene encodes the Golgi microtubule-associated protein 210 (GMAP-210), a protein essential for the operation of the Golgi apparatus. It is known that null mutations in TRIP11 disrupt Golgi functio...

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogen...
https://doi.org/10.1002/ajmg.a.61469
American Journal of Medical Genetics. Part A; Sato T, Kojima T et. al.

Dec 27th, 2019 - We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation i...

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phen...
https://doi.org/10.1002/ajmg.a.61414
American Journal of Medical Genetics. Part A REFERENCES; Girisha KM, Bhavani GS et. al.

Nov 22nd, 2019 - The phenotypic spectrum of Type 2 collagenopathies ranges from lethal achondrogenesis Type 2 to milder osteoarthritis with mild chondrodysplasia. All of them are monoallelic except for the two recent reports showing that biallelic variants in COL2...

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Clinicaltrials.gov  49 results

Description of four patients with TRIP11 variants expand the clinical spectrum of odont...
https://doi.org/10.1016/j.ejmg.2021.104198
European Journal of Medical Genetics; Del Pino M, Sanchez-Soler MJ et. al.

Mar 22nd, 2021 - More than two decades since the first clinical and radiological description of odontochondroplasia (ODCD) was reported, biallelic loss of function variants in the Thyroid hormone receptor interactor 11 gene (TRIP11) were identified, the same gene ...

Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computeriz...
https://doi.org/10.1016/j.clinimag.2020.10.013
Clinical Imaging; Bisht RU, Belthur MV et. al.

Oct 18th, 2020 - We present a case of hypochondrogenesis, a rare autosomal dominant skeletal dysplasia that often results in infant death shortly after birth. Hypochondrogenesis can present similarly to other skeletal dysplasia diseases, notably achondrogenesis ty...

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontoc...
https://doi.org/10.1002/ajmg.a.61460
American Journal of Medical Genetics. Part A; Medina CTN, Sandoval R et. al.

Jan 6th, 2020 - The thyroid hormone receptor interactor 11 (TRIP11) gene encodes the Golgi microtubule-associated protein 210 (GMAP-210), a protein essential for the operation of the Golgi apparatus. It is known that null mutations in TRIP11 disrupt Golgi functio...

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogen...
https://doi.org/10.1002/ajmg.a.61469
American Journal of Medical Genetics. Part A; Sato T, Kojima T et. al.

Dec 27th, 2019 - We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation i...

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phen...
https://doi.org/10.1002/ajmg.a.61414
American Journal of Medical Genetics. Part A REFERENCES; Girisha KM, Bhavani GS et. al.

Nov 22nd, 2019 - The phenotypic spectrum of Type 2 collagenopathies ranges from lethal achondrogenesis Type 2 to milder osteoarthritis with mild chondrodysplasia. All of them are monoallelic except for the two recent reports showing that biallelic variants in COL2...

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News  1 results

Peering into My Own Genome
https://www.medpagetoday.com/genetics/genetictesting/53088

Aug 16th, 2015 - I have looked into my genome and seen ... nothing much to worry about. I carry 15 rare genetic variants that have been associated with some form of disease, but I am heterozygous for all of them -- I have one intact copy of the same gene. So I car...

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