Latest Publications and Research on Birth Defect - Genetic

PeerJ    

Integrated bioinformatics analysis of potential pathway biomarkers using abnormal proteins in clubfoot.

Cai G, Yang X, Chen T, Jin F, Ding J, Wu Z

As one of the most common major congenital distal skeletal abnormalities, congenital talipes equinovarus (clubfoot) affects approximately one in one t... Read More

Source: PubMed


Childs Nerv Syst  2020 Jan 31  

Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.

Etchegaray A, Juarez-Peñalva S, Petracchi F, Igarzabal L

Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather than a proper diagnosis, VM is a sonographic sign, making prenatal co... Read More

Source: PubMed

Am. J. Med. Genet. A  2020 Jan 31  

Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.

Lindsay F, Anderson I, Wentzensen IM, Suhrbier D, Stevens CA

Rhombencephalosynapsis (RES) is a rare congenital anomaly of the hindbrain characterized by fusion of the cerebellar hemispheres, cerebellar peduncles... Read More

Source: PubMed

EMBO Mol Med  2020 Jan 31  

Inhibiting MARSs reduces hyperhomocysteinemia-associated neural tube and congenital heart defects.

Mei X, Qi D, Zhang T, Zhao Y, Jin L, Hou J, Wang J, Lin Y, Xue Y, Zhu P, Liu Z, Huang L, Nie J, Si W, Ma J, Ye J, Finnell RH, Saiyin H, Wang H, Zhao J, Zhao S, Xu W

Hyperhomocysteinemia is a common metabolic disorder that imposes major adverse health consequences. Reducing homocysteine levels, however, is not alwa... Read More

Source: PubMed

Medicine (Baltimore)    

The prevalence of spinal muscular atrophy carrier in China: Evidences from epidemiological surveys.

Li C, Geng Y, Zhu X, Zhang L, Hong Z, Guo X, Xia C

Spinal muscular atrophy (SMA) was the second most fatal autosomal recessive hereditary disease in clinic. There had been no detailed study to characte... Read More

Source: PubMed

Comments

mani- Wednesday, July 31, 2013

MY SON IS DOWNSYNDROME BABY. HE IS 2 YEARS OLD.F\HE IS ENT, EYES ,HEART CHECK UP IS NORMAL. HE IS SLOW THE WALK and SPEECH. ALL ACTIVITIES 6 MONTH SLOW FURTHER INFORMATION PLZ. DONT IDEA FOR DOWNSYNDROME

Advancells Thursday, August 1, 2013

Hi Mani, birth defects can be eradicated through proper care & treatment. I think you should consult an expert physician and get the right help for your son. Hopefully he will be fine soon. God Bless!!

honnet Wednesday, March 16, 2011

The Content/ remarks were helpful. From http://www.hyderabadonnet.com

CrystalDivine Saturday, June 26, 2010

Women can have Hemophilia as well as men. It is very rare but, It is possible.

paschar Monday, February 15, 2010

We found no mention of the G380R mutation factor in FGFR3 and other related conditions i.e. spinal stenosis, Kartagener`s Syndrome. Paschar

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