NIPAL4/Ichthyin Is Expressed in the Granular Layer of Human Epidermis and Mutated in Two Pakistani Families with Autosomal Recessive Ichthyosis

Por Wajid, Muhammad, Kurban, Mazen, Shimomura, Yutaka, Christiano, Angela M.
Publicado em 2010

A Nonsense Mutation in the SCN9A Gene in Congenital Insensitivity to Pain

Por Kurban, Mazen, Wajid, Muhammad, Shimomura, Yutaka, Christiano, Angela M.
Publicado em 2010

Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis

Por Kurban, Mazen, Wajid, Muhammad, Shimomura, Yutaka, Christiano, Angela M.
Publicado no J Eur Acad Dermatol Venereol (2012)

Trps1 and Its Target Gene Sox9 Regulate Epithelial Proliferation in the Developing Hair Follicle and Are Associated with Hypertrichosis

Por Fantauzzo, Katherine A., Kurban, Mazen, Levy, Brynn, Christiano, Angela M.
Publicado em 2012

Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture

Por Shimomura, Yutaka, Wajid, Muhammad, Petukhova, Lynn, Kurban, Mazen, Christiano, Angela M.
Publicado em 2010

A Common Founder Mutation in the EDA-A1 Gene in X-Linked Hypodontia

Por Kurban, Mazen, Michailidis, Eleni, Wajid, Muhammad, Shimomura, Yutaka, Christiano, Angela M.
Publicado em 2010

A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance

Por Kurban, Mazen, Wajid, Muhammad, Petukhova, Lynn, Shimomura, Yutaka, Christiano, Angela M
Publicado no J Hum Genet (2011)

Evidence for a Founder Mutation in the Cathepsin C Gene in Three Families with Papillon-Lefèvre Syndrome

Por Kurban, Mazen, Wajid, Muhammad, Shimomura, Yutaka, Bahhady, Ruba, Kibbi, Abdul-Ghani, Christiano, Angela M.
Publicado em 2009

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

Por Cabral, Rita M., Kurban, Mazen, Wajid, Muhammad, Shimomura, Yutaka, Petukhova, Lynn, Christiano, Angela M.
Publicado no Genomics (2012)

Hereditary Leukonychia, or Porcelain Nails, Resulting from Mutations in PLCD1

Por Kiuru, Maija, Kurban, Mazen, Itoh, Munenari, Petukhova, Lynn, Shimomura, Yutaka, Wajid, Muhammad, Christiano, Angela M.
Publicado em 2011

Genetics of inherited cardiocutaneous syndromes: a review

Por Bardawil, Tara, Khalil, Samar, Bergqvist, Christina, Abbas, Ossama, Kibbi, Abdul Ghani, Bitar, Fadi, Nemer, Georges, Kurban, Mazen
Publicado no Open Heart (2016)

Copy Number Variations on Chromosome 4q26–27 Are Associated with Cantu Syndrome

Por Kurban, Mazen, Kim, Chong Ae, Kiuru, Maija, Fantauzzo, Katherine, Cabral, Rita, Abbas, Ossama, Levy, Brynn, Christiano, Angela M.
Publicado em 2012

Identification of Several Mutations in ATP2C1 in Lebanese Families: Insight into the Pathogenesis of Hailey-Hailey Disease

Por Btadini, Waed, Abou Hassan, Ossama K., Saadeh, Dana, Abbas, Ossama, Ballout, Farah, Kibbi, Abdul-Ghani, Dbaibo, Ghassan, Darwiche, Nadine, Nemer, Georges, Kurban, Mazen
Publicado no PLoS One (2015)

Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis

Por DeStefano, Gina M., Fantauzzo, Katherine A., Petukhova, Lynn, Kurban, Mazen, Tadin-Strapps, Marija, Levy, Brynn, Warburton, Dorothy, Cirulli, Elizabeth T., Han, Yujun, Sun, Xiaoyun, Shen, Yufeng, Shirazi, Maryam, Jobanputra, Vaidehi, Cepeda-Valdes, Rodrigo, Cesar Salas-Alanis, Julio, Christiano, Angela M.
Publicado em 2013

Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

Por DeStefano, Gina M., Kurban, Mazen, Anyane-Yeboa, Kwame, Dall'Armi, Claudia, Di Paolo, Gilbert, Feenstra, Heather, Silverberg, Nanette, Rohena, Luis, López-Cepeda, Larissa D., Jobanputra, Vaidehi, Fantauzzo, Katherine A., Kiuru, Maija, Tadin-Strapps, Marija, Sobrino, Antonio, Vitebsky, Anna, Warburton, Dorothy, Levy, Brynn, Salas-Alanis, Julio C., Christiano, Angela M.
Publicado em 2014