About Genetic Testing

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Latest Publications and Research on Genetic Testing of Diseases

Clin. Genet.  2018 Jul 13  

The power of the Mediator complex - expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.

Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Menzel C, Bienek M, Poznanski J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM

MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene ... Read More

Source: PubMed


Parasit Vectors    

Widespread arenavirus occurrence and seroprevalence in small mammals, Nigeria.

Olayemi A, Oyeyiola A, Obadare A, Igbokwe J, Adesina AS, Onwe F, Ukwaja KN, Ajayi NA, Rieger T, Günther S, Fichet-Calvet E

Lassa fever, killing thousands of people annually, is the most reported viral zoonotic disease in Nigeria. Recently, different rodent species carrying... Read More

Source: PubMed

Mult Scler Relat Disord    

Incorporating machine learning approaches to assess putative environmental risk factors for multiple sclerosis.

Mowry EM, Hedström AK, Gianfrancesco MA, Shao X, Schaefer CA, Shen L, Bellesis KH, Briggs FBS, Olsson T, Alfredsson L, Barcellos LF

Multiple sclerosis (MS) incidence has increased recently, particularly in women, suggesting a possible role of one or more environmental exposures in ... Read More

Source: PubMed

J Adolesc Young Adult Oncol  2018 Jul 13  

A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?

Forbes Shepherd R, Lewis A, Keogh LA, Werner-Lin A, Delatycki MB, Forrest LE

Li-Fraumeni syndrome (LFS), a multiorgan cancer predisposition caused by germline TP53 mutations, confers significant cancer risks for young people (1... Read More

Source: PubMed

Expert Rev. Mol. Diagn.  2018 Jul 13  

Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.

Millington D, Norton S, Singh R, Sista R, Srinivasan V, Pamula V

Digital microfluidics (DMF) is an emerging technology with the appropriate metrics for application to newborn and high-risk screening for inherited me... Read More

Source: PubMed

Clin. Genet.  2018 Jul 13  

The power of the Mediator complex - expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.

Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Menzel C, Bienek M, Poznanski J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM

MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene ... Read More

Source: PubMed

Parasit Vectors    

Widespread arenavirus occurrence and seroprevalence in small mammals, Nigeria.

Olayemi A, Oyeyiola A, Obadare A, Igbokwe J, Adesina AS, Onwe F, Ukwaja KN, Ajayi NA, Rieger T, Günther S, Fichet-Calvet E

Lassa fever, killing thousands of people annually, is the most reported viral zoonotic disease in Nigeria. Recently, different rodent species carrying... Read More

Source: PubMed

Mult Scler Relat Disord    

Incorporating machine learning approaches to assess putative environmental risk factors for multiple sclerosis.

Mowry EM, Hedström AK, Gianfrancesco MA, Shao X, Schaefer CA, Shen L, Bellesis KH, Briggs FBS, Olsson T, Alfredsson L, Barcellos LF

Multiple sclerosis (MS) incidence has increased recently, particularly in women, suggesting a possible role of one or more environmental exposures in ... Read More

Source: PubMed

J Adolesc Young Adult Oncol  2018 Jul 13  

A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?

Forbes Shepherd R, Lewis A, Keogh LA, Werner-Lin A, Delatycki MB, Forrest LE

Li-Fraumeni syndrome (LFS), a multiorgan cancer predisposition caused by germline TP53 mutations, confers significant cancer risks for young people (1... Read More

Source: PubMed

Expert Rev. Mol. Diagn.  2018 Jul 13  

Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.

Millington D, Norton S, Singh R, Sista R, Srinivasan V, Pamula V

Digital microfluidics (DMF) is an emerging technology with the appropriate metrics for application to newborn and high-risk screening for inherited me... Read More

Source: PubMed

Clin. Genet.  2018 Jul 13  

The power of the Mediator complex - expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.

Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Menzel C, Bienek M, Poznanski J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM

MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene ... Read More

Source: PubMed

Parasit Vectors    

Widespread arenavirus occurrence and seroprevalence in small mammals, Nigeria.

Olayemi A, Oyeyiola A, Obadare A, Igbokwe J, Adesina AS, Onwe F, Ukwaja KN, Ajayi NA, Rieger T, Günther S, Fichet-Calvet E

Lassa fever, killing thousands of people annually, is the most reported viral zoonotic disease in Nigeria. Recently, different rodent species carrying... Read More

Source: PubMed

Mult Scler Relat Disord    

Incorporating machine learning approaches to assess putative environmental risk factors for multiple sclerosis.

Mowry EM, Hedström AK, Gianfrancesco MA, Shao X, Schaefer CA, Shen L, Bellesis KH, Briggs FBS, Olsson T, Alfredsson L, Barcellos LF

Multiple sclerosis (MS) incidence has increased recently, particularly in women, suggesting a possible role of one or more environmental exposures in ... Read More

Source: PubMed

J Adolesc Young Adult Oncol  2018 Jul 13  

A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?

Forbes Shepherd R, Lewis A, Keogh LA, Werner-Lin A, Delatycki MB, Forrest LE

Li-Fraumeni syndrome (LFS), a multiorgan cancer predisposition caused by germline TP53 mutations, confers significant cancer risks for young people (1... Read More

Source: PubMed

Clin. Genet.  2018 Jul 13  

The power of the Mediator complex - expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.

Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Menzel C, Bienek M, Poznanski J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM

MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene ... Read More

Source: PubMed

Parasit Vectors    

Widespread arenavirus occurrence and seroprevalence in small mammals, Nigeria.

Olayemi A, Oyeyiola A, Obadare A, Igbokwe J, Adesina AS, Onwe F, Ukwaja KN, Ajayi NA, Rieger T, Günther S, Fichet-Calvet E

Lassa fever, killing thousands of people annually, is the most reported viral zoonotic disease in Nigeria. Recently, different rodent species carrying... Read More

Source: PubMed

Mult Scler Relat Disord    

Incorporating machine learning approaches to assess putative environmental risk factors for multiple sclerosis.

Mowry EM, Hedström AK, Gianfrancesco MA, Shao X, Schaefer CA, Shen L, Bellesis KH, Briggs FBS, Olsson T, Alfredsson L, Barcellos LF

Multiple sclerosis (MS) incidence has increased recently, particularly in women, suggesting a possible role of one or more environmental exposures in ... Read More

Source: PubMed

J Adolesc Young Adult Oncol  2018 Jul 13  

A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?

Forbes Shepherd R, Lewis A, Keogh LA, Werner-Lin A, Delatycki MB, Forrest LE

Li-Fraumeni syndrome (LFS), a multiorgan cancer predisposition caused by germline TP53 mutations, confers significant cancer risks for young people (1... Read More

Source: PubMed

Expert Rev. Mol. Diagn.  2018 Jul 13  

Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.

Millington D, Norton S, Singh R, Sista R, Srinivasan V, Pamula V

Digital microfluidics (DMF) is an emerging technology with the appropriate metrics for application to newborn and high-risk screening for inherited me... Read More

Source: PubMed

Expert Rev. Mol. Diagn.  2018 Jul 13  

Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.

Millington D, Norton S, Singh R, Sista R, Srinivasan V, Pamula V

Digital microfluidics (DMF) is an emerging technology with the appropriate metrics for application to newborn and high-risk screening for inherited me... Read More

Source: PubMed

Clin. Genet.  2018 Jul 13  

The power of the Mediator complex - expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.

Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Menzel C, Bienek M, Poznanski J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM

MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene ... Read More

Source: PubMed

Parasit Vectors    

Widespread arenavirus occurrence and seroprevalence in small mammals, Nigeria.

Olayemi A, Oyeyiola A, Obadare A, Igbokwe J, Adesina AS, Onwe F, Ukwaja KN, Ajayi NA, Rieger T, Günther S, Fichet-Calvet E

Lassa fever, killing thousands of people annually, is the most reported viral zoonotic disease in Nigeria. Recently, different rodent species carrying... Read More

Source: PubMed

Mult Scler Relat Disord    

Incorporating machine learning approaches to assess putative environmental risk factors for multiple sclerosis.

Mowry EM, Hedström AK, Gianfrancesco MA, Shao X, Schaefer CA, Shen L, Bellesis KH, Briggs FBS, Olsson T, Alfredsson L, Barcellos LF

Multiple sclerosis (MS) incidence has increased recently, particularly in women, suggesting a possible role of one or more environmental exposures in ... Read More

Source: PubMed

J Adolesc Young Adult Oncol  2018 Jul 13  

A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?

Forbes Shepherd R, Lewis A, Keogh LA, Werner-Lin A, Delatycki MB, Forrest LE

Li-Fraumeni syndrome (LFS), a multiorgan cancer predisposition caused by germline TP53 mutations, confers significant cancer risks for young people (1... Read More

Source: PubMed

Expert Rev. Mol. Diagn.  2018 Jul 13  

Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.

Millington D, Norton S, Singh R, Sista R, Srinivasan V, Pamula V

Digital microfluidics (DMF) is an emerging technology with the appropriate metrics for application to newborn and high-risk screening for inherited me... Read More

Source: PubMed

Clin. Genet.  2018 Jul 13  

The power of the Mediator complex - expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.

Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Menzel C, Bienek M, Poznanski J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM

MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene ... Read More

Source: PubMed

Parasit Vectors    

Widespread arenavirus occurrence and seroprevalence in small mammals, Nigeria.

Olayemi A, Oyeyiola A, Obadare A, Igbokwe J, Adesina AS, Onwe F, Ukwaja KN, Ajayi NA, Rieger T, Günther S, Fichet-Calvet E

Lassa fever, killing thousands of people annually, is the most reported viral zoonotic disease in Nigeria. Recently, different rodent species carrying... Read More

Source: PubMed

Mult Scler Relat Disord    

Incorporating machine learning approaches to assess putative environmental risk factors for multiple sclerosis.

Mowry EM, Hedström AK, Gianfrancesco MA, Shao X, Schaefer CA, Shen L, Bellesis KH, Briggs FBS, Olsson T, Alfredsson L, Barcellos LF

Multiple sclerosis (MS) incidence has increased recently, particularly in women, suggesting a possible role of one or more environmental exposures in ... Read More

Source: PubMed

J Adolesc Young Adult Oncol  2018 Jul 13  

A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?

Forbes Shepherd R, Lewis A, Keogh LA, Werner-Lin A, Delatycki MB, Forrest LE

Li-Fraumeni syndrome (LFS), a multiorgan cancer predisposition caused by germline TP53 mutations, confers significant cancer risks for young people (1... Read More

Source: PubMed

Expert Rev. Mol. Diagn.  2018 Jul 13  

Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.

Millington D, Norton S, Singh R, Sista R, Srinivasan V, Pamula V

Digital microfluidics (DMF) is an emerging technology with the appropriate metrics for application to newborn and high-risk screening for inherited me... Read More

Source: PubMed

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One of my relative's son has low biotinidise enzyme. He was born 2 weeks ago in USA and is using biotin 5MG tablets now. They are in USA and want to come to Chennai - in 3 months from now [2-June-2015]. They were told that a blood sample needs to be tested for biotin every 6 months to adjust the dosage of Biotin prescribed for the baby. Is Biotin tablets for infants available in Chennai? Is there medical centers/labs/doctors at Chennai who treats such biotin related gene disorder? Any early response is greatly appreciated. Thanks !

mjav123

Dear Doctor, My daughter is suffering from CAH and she need a genital corrective surgery. She is under AIIMS treatment. I do not know if where CAH is being treated. Due to a long waiting time I wish to have an alternate opinion. Please suggest me. Thanks a lot.

Hello Doctor, can you please suggest the best place in India for genetic counseling. My daughter who is now 5 1/5 years old had long segment hirschsprungs diseases at birth which was treated with pull through surgery. Both me and my husband are not aware of any family history of hirschsprungs in our family. Now I am planning for another kid but before that want to be sure of the underlying reason for my daughter's condition and the chances of recurrence in future pregnancies. Any advice on this will be very much appreciated. Thank you!

The best genetic counselor in India by popular consensus is Dr.Ashok Prasad who is a professor also holding a genetic counseling masters from Brandeis University. He works only on a charitable basis in Gorakhpur but am sure could be persuaded to advise you

tulika12345

Hello doctor, we had a child who was effected by spinal muscullar attrophy[type one]. Now we are planning for our next baby. doctor told us to go for CVS testing. but I want to know whether there is any other ideal option for us.Pleas give me suggestions. Subhajit bhowmick

helllo doctor,my wife is a pregnant our doctor is prefre to amniocentesis so plz tell me where i do in delhi,india and how much it cost

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