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The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. [electronic resource] by
- Anderson, D W
- Probst, F J
- Belyantseva, I A
- Fridell, R A
- Beyer, L
- Martin, D M
- Wu, D
- Kachar, B
- Friedman, T B
- Raphael, Y
- Camper, S A
Producer: 20001027
In:
Human molecular genetics vol. 9
Availability: No items available.
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7.
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Evidence for coupling of membrane targeting and function of the signal recognition particle (SRP) receptor FtsY. [electronic resource] by
- Herskovits, A A
- Seluanov, A
- Rajsbaum, R
- ten Hagen-Jongman, C M
- Henrichs, T
- Bochkareva, E S
- Phillips, G J
- Probst, F J
- Nakae, T
- Ehrmann, M
- Luirink, J
- Bibi, E
Producer: 20020130
In:
EMBO reports vol. 2
Availability: No items available.
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8.
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Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. [electronic resource] by
- Wang, A
- Liang, Y
- Fridell, R A
- Probst, F J
- Wilcox, E R
- Touchman, J W
- Morton, C C
- Morell, R J
- Noben-Trauth, K
- Camper, S A
- Friedman, T B
Producer: 19980618
In:
Science (New York, N.Y.) vol. 280
Availability: No items available.
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9.
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Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. [electronic resource] by
- Probst, F J
- Fridell, R A
- Raphael, Y
- Saunders, T L
- Wang, A
- Liang, Y
- Morell, R J
- Touchman, J W
- Lyons, R H
- Noben-Trauth, K
- Friedman, T B
- Camper, S A
Producer: 19980618
In:
Science (New York, N.Y.) vol. 280
Availability: No items available.
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10.
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Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. [electronic resource] by
- Liang, Y
- Wang, A
- Belyantseva, I A
- Anderson, D W
- Probst, F J
- Barber, T D
- Miller, W
- Touchman, J W
- Jin, L
- Sullivan, S L
- Sellers, J R
- Camper, S A
- Lloyd, R V
- Kachar, B
- Friedman, T B
- Fridell, R A
Producer: 20000214
In:
Genomics vol. 61
Availability: No items available.
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11.
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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. [electronic resource] by
- Probst, F J
- James, R A
- Burrage, L C
- Rosenfeld, J A
- Bohan, T P
- Ward Melver, C H
- Magoulas, P
- Austin, E
- Franklin, A I A
- Azamian, M
- Xia, F
- Patel, A
- Bi, W
- Bacino, C
- Belmont, J W
- Ware, S M
- Shaw, C
- Cheung, S W
- Lalani, S R
Producer: 20160229
In:
Orphanet journal of rare diseases vol. 10
Availability: No items available.
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12.
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Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. [electronic resource] by
- Liang, Y
- Wang, A
- Probst, F J
- Arhya, I N
- Barber, T D
- Chen, K S
- Deshmukh, D
- Dolan, D F
- Hinnant, J T
- Carter, L E
- Jain, P K
- Lalwani, A K
- Li, X C
- Lupski, J R
- Moeljopawiro, S
- Morell, R
- Negrini, C
- Wilcox, E R
- Winata, S
- Camper, S A
- Friedman, T B
Producer: 19980610
In:
American journal of human genetics vol. 62
Availability: No items available.
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13.
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Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. [electronic resource] by
- Nagamani, S C Sreenath
- Zhang, F
- Shchelochkov, O A
- Bi, W
- Ou, Z
- Scaglia, F
- Probst, F J
- Shinawi, M
- Eng, C
- Hunter, J V
- Sparagana, S
- Lagoe, E
- Fong, C-T
- Pearson, M
- Doco-Fenzy, M
- Landais, E
- Mozelle, M
- Chinault, A C
- Patel, A
- Bacino, C A
- Sahoo, T
- Kang, S H
- Cheung, S W
- Lupski, J R
- Stankiewicz, P
Producer: 20100311
In:
Journal of medical genetics vol. 46
Availability: No items available.
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