Works matching IS 1178704X AND DT 2018 AND VI 11

Results: 20

Adult-onset type II citrullinemia: Current insights and therapy.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 163, doi. 10.2147/TACG.S162084

By:

Hayasaka, Kiyoshi;
Numakura, Chikahiko

Publication type:

Article

The role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 145, doi. 10.2147/TACG.S183212

By:

Abu-Siniyeh, Ahmed;
Khabour, Omar F;
Owais, Arwa I

Publication type:

Article

The genetics of congenital central hypoventilation syndrome: clinical implications.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 135, doi. 10.2147/TACG.S140629

By:

Bishara, John;
Keens, Thomas G;
Perez, Iris A

Publication type:

Article

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 129, doi. 10.2147/TACG.S172176

By:

Alsemari, Abdulaziz;
Alsuhaibani, Mohanned;
Alhathlool, Rawabi;
Ali, Bayan Mamdouh

Publication type:

Article

Novel ATP7A gene mutation in a patient with Menkes disease.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 151, doi. 10.2147/TACG.S180087

By:

Caicedo-Herrera, Gabriela;
Candelo, Estephania;
Pinilla, Juan;
Vidal, Andrés;
Cruz, Santiago;
Pachajoa, Harry Mauricio

Publication type:

Article

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 157, doi. 10.2147/TACG.S183418

By:

Ríos-Serna, Lady J;
Díaz-Ordoñez, Lorena;
Candelo, Estephania;
Pachajoa, Harry

Publication type:

Article

Pena-Shokeir syndrome: current management strategies and palliative care.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 111, doi. 10.2147/TACG.S154643

By:

Adam, Sumaiya;
Coetzee, Melantha;
Honey, Engela Magdalena

Publication type:

Article

Association of mitochondrial DNA copy number with self-rated health status.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 121, doi. 10.2147/TACG.S167640

By:

Takahashi, Paul Y;
Jenkins, Gregory D;
Welkie, Benjamin P;
McDonnell, Shannon K;
Evans, Jared M;
Cerhan, James R;
Olson, Janet E;
Thibodeau, Steven N;
Cicek, Mine S;
Ryu, Euijung

Publication type:

Article

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 69, doi. 10.2147/TACG.S157235

By:

Vanegas, Sara;
Sua, Luz Fernanda;
López-Tenorio, Jaime;
Ramírez-Montaño, Diana;
Pachajoa, Harry

Publication type:

Article

Aortic calcification in Gaucher disease: a case report.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 107, doi. 10.2147/TACG.S180995

By:

Alsahli, Saud;
Bubshait, Dalal K;
Rahbeeni, Zuhair A;
Alfadhel, Majid

Publication type:

Article

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 93, doi. 10.2147/TACG.S165799

By:

Carneiro, Thaise NR;
Krepischi, Ana CV;
Costa, Silvia S;
Silva, Israel Tojal da;
Vianna-Morgante, Angela M;
Valieris, Renan;
Ezquina, Suzana AM;
Bertola, Debora R;
Otto, Paulo A;
Rosenberg, Carla

Publication type:

Article

Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 89, doi. 10.2147/TACG.S155083

By:

Ribeiro, Marina Guinda;
Zunta, Gabriella Lucato;
Santos, Jéssica Silva;
Moraes, Aparecida Machado;
Lima, Carmen Silvia Passos;
Ortega, Manoela Marques

Publication type:

Article

Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 81, doi. 10.2147/TACG.S158297

By:

Shafae, Mohammed M El;
Sabry, Jehan H;
Behiry, Eman G;
Sabry, Hanan H;
Salim, Mona A;
Fayez, Alaaeldin G

Publication type:

Article

Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 59, doi. 10.2147/TACG.S155955

By:

Shah, Nidhi D;
Shah, Parth S;
Panchal, Yash Y;
Katudia, Kalpesh H;
Khatri, Nikunj B;
Ray, Hari Shankar P;
Bhatiya, Upti R;
Shah, Sandip C;
Shah, Bhavini S;
Rao, Mandava V

Publication type:

Article

IRS-1 genetic polymorphism (r.2963G>A) in type 2 diabetes mellitus patients associated with insulin resistance.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 99, doi. 10.2147/TACG.S171096

By:

Yousef, Anas A;
Behiry, Eman G;
Allah, Wafaa M Abd;
Hussien, Ahmed M;
Abdelmoneam, Abdelmoneam A;
Imam, Mahmoud H;
Hikal, Doaa M

Publication type:

Article

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 45, doi. 10.2147/TACG.S141881

By:

Tapiero-Rodriguez, Sandra M;
Guio, Johanna C Acosta;
Porras-Hurtado, Gloria Liliana;
García, Natalia;
Solano, Martha;
Pachajoa, Harry;
Velasco, Harvy M

Publication type:

Article

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 31, doi. 10.2147/TACG.S150982

By:

Alrukban, Hadeel;
Chitayat, David

Publication type:

Article

Clinical and molecular genetic features of Hb H and AE Bart's diseases in central Thai children.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 23, doi. 10.2147/TACG.S161152

By:

Traivaree, Chanchai;
Boonyawat, Boonchai;
Monsereenusorn, Chalinee;
Rujkijyanont, Piya;
Photia, Apichat

Publication type:

Article

Tetrasomy 18p: case report and review of literature.

Published in:

2018

By:

Bawazeer, Shahad;
Alshalan, Maha;
Alkhaldi, Aziza;
AlAtwi, Nasser;
AlBalwi, Mohammed;
Alswaid, Abdulrahman;
Alfadhel, Majid

Publication type:

Case Study

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 15, doi. 10.2147/TACG.S155022

By:

Pachajoa, Harry;
López-Quintero, William;
Vanegas, Sara;
Montoya, Claudia L;
Ramírez-Montaño, Diana

Publication type:

Article

Works matching IS 1178704X AND DT 2018 AND VI 11

Adult-onset type II citrullinemia: Current insights and therapy.

The role of <em>PAX9</em> promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population.

The genetics of congenital central hypoventilation syndrome: clinical implications.

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis.

Novel <em>ATP7A </em>gene mutation in a patient with Menkes disease.

A novel de novo <em>TBX5 </em>mutation in a patient with Holt-Oram syndrome.

Pena-Shokeir syndrome: current management strategies and palliative care.

Association of mitochondrial DNA copy number with self-rated health status.

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis.

Aortic calcification in Gaucher disease: a case report.

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age.

Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia.

Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients.

IRS-1 genetic polymorphism (r.2963G>A) in type 2 diabetes mellitus patients associated with insulin resistance.

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review.

Clinical and molecular genetic features of Hb H and AE Bart's diseases in central Thai children.

Tetrasomy 18p: case report and review of literature.

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.