Volume Volume 11

The Application of Clinical Genetics

Volume Volume 11

1

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

Shah, Nidhi, Shah, Parth, Panchal, Yash, Katudia, Kalpesh, Khatri, Nikunj B, Ray, Hari Shankar, Bhatiya, Upti, Shah, Sandip, Shah, Bhavini, Rao, Mandava V

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 791 KB

english, 2018

2

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

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

Journal:

The Application of Clinical Genetics

Year:

2018

File:

PDF, 1.67 MB

2018

3

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

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

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 198 KB

english, 2018

4

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

El Shafae, Mohammed, Sabry, Jehan, Behiry, Eman, Sabry, Hanan, Salim, Mona, Fayez, Alaaeldin

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.58 MB

english, 2018

5

Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia

Yang, Lisha, Ijaz, Iqra, Cheng, Jingliang, Wei, Chunli, Tan, Xiaojun, Khan, Md. Asaduzzaman, Fu, Xiaodong, Fu, Junjiang

Journal:

The Application of Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.63 MB

english, 2017

6

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

Vanegas, Sara, Sua, Luz Fernanda, López-Tenorio, Jaime, Ramirez-Montaño, Diana, Pachajoa, Harry Mauricio

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 2.89 MB

english, 2018

7

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

Pachajoa, Harry, Lopez-Quintero, William, Vanegas, Sara, Montoya, Claudia, Ramírez-Montaño, Diana

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.23 MB

english, 2018

8

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

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

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.67 MB

english, 2018

9

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

Carneiro, Thaise, Krepischi, Ana, Souza da Costa, Silvia, Tojal da Silva, Israel, Vianna-Morgante, Angela, Valieris, Renan, Ezquina, Suzana, Bertola, Debora, Otto, Paulo, Rosenberg, Carla

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 945 KB

english, 2018

10

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review

Alrukban, Hadeel, Chitayat, David

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 185 KB

english, 2018

11

Tetrasomy 18p: case report and review of literature

Bawazeer, Shahad, Alshalan, Maha, Alkhaldi, Azizah, Alatwi, Nasser, AlBalwi, Mohammed, Alswaid, Abdulrahman, Alfadhel, Majid

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.29 MB

english, 2018

12

Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

Ochando, Isabel, Alonzo Martínez, Melanie Cristine, Serrano, Ana María, Urbano, Antonio, Cazorla, Eduardo, Calvo, Dolores, Rueda, Joaquín

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.87 MB

english, 2018

13

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

Tapiero, Sandra, Acosta, Johanna, Porras-Hurtado, Gloria, García, Natalia, Solano, Martha, Pachajoa, Harry, Velasco, Harvy

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 4.01 MB

english, 2018

14

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

Yousef, Anas, Behiry, Eman, Abd Allah, Wafaa, Hussien, Ahmed, Abdelmoneam, Abdelmoneam, Imam, Mahmoud, Hikal, Doaa

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 516 KB

english, 2018

15

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

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

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 115 KB

english, 2018

16

Pena-Shokeir syndrome: current management strategies and palliative care

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

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 218 KB

english, 2018

17

Aortic calcification in Gaucher disease: a case report

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

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 356 KB

english, 2018

18

The genetics of congenital central hypoventilation syndrome: clinical implications

Bishara, John, Keens, Thomas, Perez, Iris

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 182 KB

english, 2018

19

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

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

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 935 KB

english, 2018

20

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

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

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.64 MB

english, 2018

21

Novel ATP7A gene mutation in a patient with Menkes disease

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

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 2.58 MB

english, 2018

22

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

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

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 3.14 MB

english, 2018

23

Adult-onset type II citrullinemia: Current insights and therapy

Hayasaka, Kiyoshi, Numakura, Chikahiko

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.29 MB

english, 2018

24

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

Abu-Siniyeh, Ahmed A., Khabour, Omar F., Owais, Arwa I.

Journal:

The Application of Clinical Genetics

Year:

2018

File:

PDF, 549 KB

2018