Publications:

Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.

International Journal Of Audiology

D'Aguillo, Christine C; Bressler, Sara S; Yan, Denise D; Mittal, Rahul R; Fifer, Robert R; Blanton, Susan H SH; Liu, Xuezhong X

Publication Date: 2019-12

Variant appearance in text: TPRN: 42_52del

PubMed Link: 31264897

Variant Present in the following documents:

• Main text

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Genetic causes of moderate to severe hearing loss point to modifiers.

Clinical Genetics

Naz, Sadaf S; Imtiaz, Ayesha A; Mujtaba, Ghulam G; Maqsood, Azra A; Bashir, Rasheeda R; Bukhari, Ihtisham I; Khan, Muhammad R MR; Ramzan, Memoona M; Fatima, Amara A; Rehman, Atteeq U AU; Iqbal, Muddassar M; Chaudhry, Taimur T; Lund, Merete M; Brewer, Carmen C CC; Morell, Robert J RJ; Friedman, Thomas B TB

Publication Date: 2017-04

Variant appearance in text: TPRN: 42_52del

PubMed Link: 27573290

Variant Present in the following documents:

• Main text

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The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.

Biochemical Genetics

Bashir, Rasheeda R; Imtiaz, Ayesha A; Fatima, Amara A; Alam, Afzaal A; Naz, Sadaf S

Publication Date: 2013-06

Variant appearance in text: TPRN: 42_52del

PubMed Link: 23340767

Variant Present in the following documents:

• Main text

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Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

American Journal Of Human Genetics

Rehman, Atteeq Ur AU; Morell, Robert J RJ; Belyantseva, Inna A IA; Khan, Shahid Y SY; Boger, Erich T ET; Shahzad, Mohsin M; Ahmed, Zubair M ZM; Riazuddin, Saima S; Khan, Shaheen N SN; Riazuddin, Sheikh S; Friedman, Thomas B TB

Publication Date: 2010-03-12

Variant appearance in text: TPRN: 42_52del

PubMed Link: 20170899

Variant Present in the following documents:

• Main text

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Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

American Journal Of Human Genetics

Li, Yun Y; Pohl, Esther E; Boulouiz, Redouane R; Schraders, Margit M; Nürnberg, Gudrun G; Charif, Majida M; Admiraal, Ronald J C RJ; von Ameln, Simon S; Baessmann, Ingelore I; Kandil, Mostafa M; Veltman, Joris A JA; Nürnberg, Peter P; Kubisch, Christian C; Barakat, Abdelhamid A; Kremer, Hannie H; Wollnik, Bernd B

Publication Date: 2010-03-12

Variant appearance in text: TPRN: 42_52del

PubMed Link: 20170898

Variant Present in the following documents:

• Main text

View BVdb publication page