Results
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141.
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Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts. [electronic resource] by
- Irum, Bushra
- Khan, Shahid Y
- Ali, Muhammad
- Kaul, Haiba
- Kabir, Firoz
- Rauf, Bushra
- Fatima, Fareeha
- Nadeem, Raheela
- Khan, Arif O
- Al Obaisi, Saif
- Naeem, Muhammad Asif
- Nasir, Idrees A
- Khan, Shaheen N
- Husnain, Tayyab
- Riazuddin, Sheikh
- Akram, Javed
- Eghrari, Allen O
- Riazuddin, S Amer
Producer: 20170626
In:
PloS one vol. 11
Availability: No items available.
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142.
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Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. [electronic resource] by
- Riazuddin, Saima
- Nazli, Sabiha
- Ahmed, Zubair M
- Yang, Yi
- Zulfiqar, Fareeha
- Shaikh, Rehan S
- Zafar, Ahmed U
- Khan, Shaheen N
- Sabar, Farooq
- Javid, Fouzia T
- Wilcox, Edward R
- Tsilou, Ekaterini
- Boger, Erich T
- Sellers, James R
- Belyantseva, Inna A
- Riazuddin, Sheikh
- Friedman, Thomas B
Producer: 20080416
In:
Human mutation vol. 29
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143.
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Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. [electronic resource] by
- Rehman, Atteeq U
- Gul, Khitab
- Morell, Robert J
- Lee, Kwanghyuk
- Ahmed, Zubair M
- Riazuddin, Saima
- Ali, Rana A
- Shahzad, Mohsin
- Jaleel, Ateeq-Ul
- Andrade, Paula B
- Khan, Shaheen N
- Khan, Saadullah
- Brewer, Carmen C
- Ahmad, Wasim
- Leal, Suzanne M
- Riazuddin, Sheikh
- Friedman, Thomas B
Producer: 20120118
In:
Human genetics vol. 130
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144.
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Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. [electronic resource] by
- Riazuddin, Saima
- Khan, Shaheen N
- Ahmed, Zubair M
- Ghosh, Manju
- Caution, Kyle
- Nazli, Sabiha
- Kabra, Madhulika
- Zafar, Ahmad U
- Chen, Kevin
- Naz, Sadaf
- Antonellis, Anthony
- Pavan, William J
- Green, Eric D
- Wilcox, Edward R
- Friedman, Penelope L
- Morell, Robert J
- Riazuddin, Sheikh
- Friedman, Thomas B
Producer: 20060530
In:
American journal of human genetics vol. 78
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145.
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Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts. [electronic resource] by
- Irum, Bushra
- Khan, Shahid Y
- Ali, Muhammad
- Daud, Muhammad
- Kabir, Firoz
- Rauf, Bushra
- Fatima, Fareeha
- Iqbal, Hira
- Khan, Arif O
- Al Obaisi, Saif
- Naeem, Muhammad Asif
- Nasir, Idrees A
- Khan, Shaheen N
- Husnain, Tayyab
- Riazuddin, Sheikh
- Akram, Javed
- Eghrari, Allen O
- Riazuddin, S Amer
Producer: 20170706
In:
PloS one vol. 11
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146.
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Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. [electronic resource] by
- Ahmed, Zubair M
- Yousaf, Rizwan
- Lee, Byung Cheon
- Khan, Shaheen N
- Lee, Sue
- Lee, Kwanghyuk
- Husnain, Tayyab
- Rehman, Atteeq Ur
- Bonneux, Sarah
- Ansar, Muhammad
- Ahmad, Wasim
- Leal, Suzanne M
- Gladyshev, Vadim N
- Belyantseva, Inna A
- Van Camp, Guy
- Riazuddin, Sheikh
- Friedman, Thomas B
- Riazuddin, Saima
Producer: 20110203
In:
American journal of human genetics vol. 88
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147.
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Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening. [electronic resource] by
- Chen, Jianjun
- Wang, Qiwei
- Cabrera, Patricia E
- Zhong, Zilin
- Sun, Wenmin
- Jiao, Xiaodong
- Chen, Yabin
- Govindarajan, Gowthaman
- Naeem, Muhammad Asif
- Khan, Shaheen N
- Ali, Muhammad Hassaan
- Assir, Muhammad Zaman
- Rahman, Fawad Ur
- Qazi, Zaheeruddin A
- Riazuddin, Sheikh
- Akram, Javed
- Riazuddin, S Amer
- Hejtmancik, J Fielding
Producer: 20170426
In:
Investigative ophthalmology & visual science vol. 58
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148.
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Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts. [electronic resource] by
- Irum, Bushra
- Khan, Shahid Y
- Ali, Muhammad
- Daud, Muhammad
- Kabir, Firoz
- Rauf, Bushra
- Fatima, Fareeha
- Iqbal, Hira
- Khan, Arif O
- Obaisi, Saif Al
- Naeem, Muhammad Asif
- Nasir, Idrees A
- Khan, Shaheen N
- Husnain, Tayyab
- Riazuddin, Sheikh
- Akram, Javed
- Eghrari, Allen O
- Riazuddin, S Amer
Publication details: PloS one
In:
PloS one vol. 12
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149.
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Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. [electronic resource] by
- Iqbal, Zafar
- Püttmann, Lucia
- Musante, Luciana
- Razzaq, Attia
- Zahoor, Muhammad Yasir
- Hu, Hao
- Wienker, Thomas F
- Garshasbi, Masoud
- Fattahi, Zohreh
- Gilissen, Christian
- Vissers, Lisenka E L M
- de Brouwer, Arjan P M
- Veltman, Joris A
- Pfundt, Rolph
- Najmabadi, Hossein
- Ropers, Hans-Hilger
- Riazuddin, Sheikh
- Kahrizi, Kimia
- van Bokhoven, Hans
Producer: 20161031
In:
European journal of human genetics : EJHG vol. 24
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150.
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Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. [electronic resource] by
- Kitajiri, Shin-ichiro
- Sakamoto, Takeshi
- Belyantseva, Inna A
- Goodyear, Richard J
- Stepanyan, Ruben
- Fujiwara, Ikuko
- Bird, Jonathan E
- Riazuddin, Saima
- Riazuddin, Sheikh
- Ahmed, Zubair M
- Hinshaw, Jenny E
- Sellers, James
- Bartles, James R
- Hammer, John A
- Richardson, Guy P
- Griffith, Andrew J
- Frolenkov, Gregory I
- Friedman, Thomas B
Producer: 20100617
In:
Cell vol. 141
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151.
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A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. [electronic resource] by
- Riazuddin, S Amer
- Shahzadi, Amber
- Zeitz, Christina
- Ahmed, Zubair M
- Ayyagari, Radha
- Chavali, Venkata R M
- Ponferrada, Virgilio G
- Audo, Isabelle
- Michiels, Christelle
- Lancelot, Marie-Elise
- Nasir, Idrees A
- Zafar, Ahmad U
- Khan, Shaheen N
- Husnain, Tayyab
- Jiao, Xiaodong
- MacDonald, Ian M
- Riazuddin, Sheikh
- Sieving, Paul A
- Katsanis, Nicholas
- Hejtmancik, J Fielding
Producer: 20101028
In:
American journal of human genetics vol. 87
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152.
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FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. [electronic resource] by
- Khan, Shahid Y
- Vasanth, Shivakumar
- Kabir, Firoz
- Gottsch, John D
- Khan, Arif O
- Chaerkady, Raghothama
- Lee, Mei-Chong W
- Leitch, Carmen C
- Ma, Zhiwei
- Laux, Julie
- Villasmil, Rafael
- Khan, Shaheen N
- Riazuddin, Sheikh
- Akram, Javed
- Cole, Robert N
- Talbot, C Conover
- Pourmand, Nader
- Zaghloul, Norann A
- Hejtmancik, J Fielding
- Riazuddin, S Amer
Producer: 20180626
In:
Nature communications vol. 7
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153.
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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [electronic resource] by
- Li, Lin
- Chen, Yabin
- Jiao, Xiaodong
- Jin, Chongfei
- Jiang, Dan
- Tanwar, Mukesh
- Ma, Zhiwei
- Huang, Li
- Ma, Xiaoyin
- Sun, Wenmin
- Chen, Jianjun
- Ma, Yan
- M'hamdi, Oussama
- Govindarajan, Gowthaman
- Cabrera, Patricia E
- Li, Jiali
- Gupta, Nikhil
- Naeem, Muhammad Asif
- Khan, Shaheen N
- Riazuddin, Sheikh
- Akram, Javed
- Ayyagari, Radha
- Sieving, Paul A
- Riazuddin, S Amer
- Hejtmancik, J Fielding
Producer: 20170426
In:
Investigative ophthalmology & visual science vol. 58
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154.
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Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. [electronic resource] by
- Schultz, Julie M
- Khan, Shaheen N
- Ahmed, Zubair M
- Riazuddin, Saima
- Waryah, Ali M
- Chhatre, Dhananjay
- Starost, Matthew F
- Ploplis, Barbara
- Buckley, Stephanie
- Velásquez, David
- Kabra, Madhulika
- Lee, Kwanghyuk
- Hassan, Muhammad J
- Ali, Ghazanfar
- Ansar, Muhammad
- Ghosh, Manju
- Wilcox, Edward R
- Ahmad, Wasim
- Merlino, Glenn
- Leal, Suzanne M
- Riazuddin, Sheikh
- Friedman, Thomas B
- Morell, Robert J
Producer: 20090715
In:
American journal of human genetics vol. 85
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155.
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Null mutations in LTBP2 cause primary congenital glaucoma. [electronic resource] by
- Ali, Manir
- McKibbin, Martin
- Booth, Adam
- Parry, David A
- Jain, Payal
- Riazuddin, S Amer
- Hejtmancik, J Fielding
- Khan, Shaheen N
- Firasat, Sabika
- Shires, Mike
- Gilmour, David F
- Towns, Katherine
- Murphy, Anna-Louise
- Azmanov, Dimitar
- Tournev, Ivailo
- Cherninkova, Sylvia
- Jafri, Hussain
- Raashid, Yasmin
- Toomes, Carmel
- Craig, Jamie
- Mackey, David A
- Kalaydjieva, Luba
- Riazuddin, Sheikh
- Inglehearn, Chris F
Producer: 20090609
In:
American journal of human genetics vol. 84
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156.
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Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. [electronic resource] by
- Schultz, Julie M
- Bhatti, Rashid
- Madeo, Anne C
- Turriff, Amy
- Muskett, Julie A
- Zalewski, Christopher K
- King, Kelly A
- Ahmed, Zubair M
- Riazuddin, Saima
- Ahmad, Nazir
- Hussain, Zawar
- Qasim, Muhammad
- Kahn, Shaheen N
- Meltzer, Meira R
- Liu, Xue Z
- Munisamy, Murali
- Ghosh, Manju
- Rehm, Heidi L
- Tsilou, Ekaterini T
- Griffith, Andrew J
- Zein, Wadih M
- Brewer, Carmen C
- Riazuddin, Sheikh
- Friedman, Thomas B
Producer: 20120210
In:
Journal of medical genetics vol. 48
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157.
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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. [electronic resource] by
- Ansar, Muhammad
- Riazuddin, Saima
- Sarwar, Muhammad Tahir
- Makrythanasis, Periklis
- Paracha, Sohail Aziz
- Iqbal, Zafar
- Khan, Jamshed
- Assir, Muhammad Zaman
- Hussain, Mureed
- Razzaq, Attia
- Polla, Daniel Lôpo
- Taj, Abid Sohail
- Holmgren, Asbjørn
- Batool, Naila
- Misceo, Doriana
- Iwaszkiewicz, Justyna
- de Brouwer, Arjan P M
- Guipponi, Michel
- Hanquinet, Sylviane
- Zoete, Vincent
- Santoni, Federico A
- Frengen, Eirik
- Ahmed, Jawad
- Riazuddin, Sheikh
- van Bokhoven, Hans
- Antonarakis, Stylianos E
Producer: 20181211
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
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158.
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Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. [electronic resource] by
- Kurima, Kiyoto
- Peters, Linda M
- Yang, Yandan
- Riazuddin, Saima
- Ahmed, Zubair M
- Naz, Sadaf
- Arnaud, Deidre
- Drury, Stacy
- Mo, Jianhong
- Makishima, Tomoko
- Ghosh, Manju
- Menon, P S N
- Deshmukh, Dilip
- Oddoux, Carole
- Ostrer, Harry
- Khan, Shaheen
- Riazuddin, Sheikh
- Deininger, Prescott L
- Hampton, Lori L
- Sullivan, Susan L
- Battey, James F
- Keats, Bronya J B
- Wilcox, Edward R
- Friedman, Thomas B
- Griffith, Andrew J
Producer: 20020419
In:
Nature genetics vol. 30
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159.
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Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. [electronic resource] by
- Ivanova, Ekaterina L
- Mau-Them, Frédéric Tran
- Riazuddin, Saima
- Kahrizi, Kimia
- Laugel, Vincent
- Schaefer, Elise
- de Saint Martin, Anne
- Runge, Karen
- Iqbal, Zafar
- Spitz, Marie-Aude
- Laura, Mary
- Drouot, Nathalie
- Gérard, Bénédicte
- Deleuze, Jean-François
- de Brouwer, Arjan P M
- Razzaq, Attia
- Dollfus, Hélène
- Assir, Muhammad Zaman
- Nitchké, Patrick
- Hinckelmann, Maria-Victoria
- Ropers, Hilger
- Riazuddin, Sheikh
- Najmabadi, Hossein
- van Bokhoven, Hans
- Chelly, Jamel
Producer: 20171027
In:
American journal of human genetics vol. 101
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160.
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Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. [electronic resource] by
- Ahmed, Zubair M
- Masmoudi, Saber
- Kalay, Ersan
- Belyantseva, Inna A
- Mosrati, Mohamed Ali
- Collin, Rob W J
- Riazuddin, Saima
- Hmani-Aifa, Mounira
- Venselaar, Hanka
- Kawar, Mayya N
- Tlili, Abdelaziz
- van der Zwaag, Bert
- Khan, Shahid Y
- Ayadi, Leila
- Riazuddin, S Amer
- Morell, Robert J
- Griffith, Andrew J
- Charfedine, Ilhem
- Caylan, Refik
- Oostrik, Jaap
- Karaguzel, Ahmet
- Ghorbel, Abdelmonem
- Riazuddin, Sheikh
- Friedman, Thomas B
- Ayadi, Hammadi
- Kremer, Hannie
Producer: 20081124
In:
Nature genetics vol. 40
Availability: No items available.
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