Opitz G BBB Syndrome Latest Advances

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: October 22, 2019

Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome.

Journal: The FEBS journal

Published: March 07, 2017

The E3 ubiquitin ligase MID1/TRIM18 promotes atypical ubiquitination of the BRCA2-associated factor 35, BRAF35.

Journal: Biochimica et biophysica acta. Molecular cell research

Published: March 07, 2017

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

Journal: BMC medical genetics

Published: November 10, 2015

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Heart failure caused by Opitz syndrome: a case report and literature review.

Heart failure caused by Opitz syndrome: a case report and literature review.

A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs.

A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs.

Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.

Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.

Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.

Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.

Morphometric analysis of the size-adjusted linear dimensions of the skull landmarks revealed craniofacial dysmorphology in Mid1-cKO mice.

Morphometric analysis of the size-adjusted linear dimensions of the skull landmarks revealed craniofacial dysmorphology in Mid1-cKO mice.

Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.

Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.

Type 2 laryngeal cleft associated with OpitzG/BBB syndrome.

Type 2 laryngeal cleft associated with OpitzG/BBB syndrome.

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature.

First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature.

Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome.

Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome.

The E3 ubiquitin ligase MID1/TRIM18 promotes atypical ubiquitination of the BRCA2-associated factor 35, BRAF35.

The E3 ubiquitin ligase MID1/TRIM18 promotes atypical ubiquitination of the BRCA2-associated factor 35, BRAF35.

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.