3MC Syndrome Latest Advances

Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Journal: Clinical dysmorphology

Published: January 03, 2019

Anaesthetic management of a patient with Michels syndrome.

Journal: Journal of clinical anesthesia

Published: December 26, 2016

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: June 30, 2016

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Journal: American journal of medical genetics. Part A

Published: March 18, 2015

Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome.

Journal: BMC biology

Published: January 08, 2015

Michels syndrome: the first case report from India and review of literature.

Journal: Indian journal of ophthalmology

Published: November 06, 2014

The x-ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme inactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome.

Journal: The Journal of biological chemistry

Published: June 25, 2013

Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function.

Journal: Journal of immunology (Baltimore, Md. : 1950)

Published: September 12, 2012

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

Journal: American journal of human genetics

Published: September 09, 2010

Three additional cases of the Michels syndrome.

Journal: American journal of medical genetics. Part A

Published: October 17, 2007

Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?

Journal: American journal of medical genetics. Part A

Published: January 20, 2007

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

Journal: American journal of medical genetics. Part A

Published: August 13, 2005

Filters

Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Anaesthetic management of a patient with Michels syndrome.

Anaesthetic management of a patient with Michels syndrome.

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome.

Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome.

Michels syndrome: the first case report from India and review of literature.

Michels syndrome: the first case report from India and review of literature.

The x-ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme inactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome.

The x-ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme inactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome.

Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function.

Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function.

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

Three additional cases of the Michels syndrome.

Three additional cases of the Michels syndrome.

Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?

Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?