-
1
-
-
0035143621
-
Prenatal diagnosis of prelingual deafness: Carrier testing and prenatal diagnosis of the common GJB2 35delG mutation
-
Antoniadi T, Pampanos A, Petersen MB. 2001. Prenatal diagnosis of prelingual deafness: Carrier testing and prenatal diagnosis of the common GJB2 35delG mutation. Prenat Diagn 21: 10-13.
-
(2001)
Prenat Diagn
, vol.21
, pp. 10-13
-
-
Antoniadi, T.1
Pampanos, A.2
Petersen, M.B.3
-
2
-
-
0027303010
-
Neurofibromatosis type 1 (NF1): Knowledge, experience, and reproductive decisions of affected patients and families
-
Benjamin C, Colley A, Donnai D, Kington H, Harris R, Kerzin-Storrar L. 1993. Neurofibromatosis type 1 (NF1): Knowledge, experience, and reproductive decisions of affected patients and families. J Med Genet 30: 567-574.
-
(1993)
J Med Genet
, vol.30
, pp. 567-574
-
-
Benjamin, C.1
Colley, A.2
Donnai, D.3
Kington, H.4
Harris, R.5
Kerzin-Storrar, L.6
-
3
-
-
0033659214
-
Parental attitudes toward genetic testing for paediatric deafness
-
Brunger JW, Murray GS, O'Riordan M, Matthews AL, Smith RJ, Robin N. 2000. Parental attitudes toward genetic testing for paediatric deafness. Am J Hum Genet 67: 1621-1625.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1621-1625
-
-
Brunger, J.W.1
Murray, G.S.2
O'Riordan, M.3
Matthews, A.L.4
Smith, R.J.5
Robin, N.6
-
4
-
-
10644224533
-
Nonsyndromic inherited hearing impairment caused by mtDNA double mutations of A1555G and 961 insC
-
Cao X, Xing GQ, Wei QJ, Bu XK, Wang DY. 2004. Nonsyndromic inherited hearing impairment caused by mtDNA double mutations of A1555G and 961 insC. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21: 629-632.
-
(2004)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
, vol.21
, pp. 629-632
-
-
Cao, X.1
Xing, G.Q.2
Wei, Q.J.3
Bu, X.K.4
Wang, D.Y.5
-
5
-
-
4243173746
-
First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness
-
Coviello DA, Brambati B, Tului L, Percesepe A, Sironi F, Sahai A, Bertorelli R, Forabosco A. 2004. First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness. Prenat Diagn 24: 631-634.
-
(2004)
Prenat Diagn
, vol.24
, pp. 631-634
-
-
Coviello, D.A.1
Brambati, B.2
Tului, L.3
Percesepe, A.4
Sironi, F.5
Sahai, A.6
Bertorelli, R.7
Forabosco, A.8
-
6
-
-
0037159458
-
Genetic testing for hearing loss: Different motivations for the same outcome
-
Dagan O, Hochner H, Levi H, Raas-Rothschild A, Sagi M. 2002. Genetic testing for hearing loss: Different motivations for the same outcome. Am J Med Genet 113: 137-143.
-
(2002)
Am J Med Genet
, vol.113
, pp. 137-143
-
-
Dagan, O.1
Hochner, H.2
Levi, H.3
Raas-Rothschild, A.4
Sagi, M.5
-
7
-
-
22244489070
-
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
-
Del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín Y, Moreno-Pelayo MA, Villamar M, Avraham KBJ, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I. 2005. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. Med Genet 42: 588-594.
-
(2005)
Med Genet
, vol.42
, pp. 588-594
-
-
Del Castillo, F.J.1
Rodríguez-Ballesteros, M.2
Alvarez, A.3
Hutchin, T.4
Leonardi, E.5
de Oliveira, C.A.6
Azaiez, H.7
Brownstein, Z.8
Avenarius, M.R.9
Marlin, S.10
Pandya, A.11
Shahin, H.12
Siemering, K.R.13
Weil, D.14
Wuyts, W.15
Aguirre, L.A.16
Martín, Y.17
Moreno-Pelayo, M.A.18
Villamar, M.19
Avraham, K.B.J.20
Dahl, H.H.21
Kanaan, M.22
Nance, W.E.23
Petit, C.24
Smith, R.J.25
Van Camp, G.26
Sartorato, E.L.27
Murgia, A.28
Moreno, F.29
del Castillo, I.30
more..
-
8
-
-
0346847511
-
Living with acondroplasia: Attitudes toward population screening and correlation with quality of life
-
Gollust SE, Thompson RE, Gooding HC, Biesecker BB. 2003. Living with acondroplasia: Attitudes toward population screening and correlation with quality of life. Prenat Diagn 23: 1003-1008.
-
(2003)
Prenat Diagn
, vol.23
, pp. 1003-1008
-
-
Gollust, S.E.1
Thompson, R.E.2
Gooding, H.C.3
Biesecker, B.B.4
-
9
-
-
0036796087
-
Issues surrounding prenatal genetic testing for achondroplasia
-
Gooding HC, Boehm K, Thompson RE, Hadley D, Francomano CA, Biesecker BB. 2002. Issues surrounding prenatal genetic testing for achondroplasia. Prenat Diagn 22: 933-940.
-
(2002)
Prenat Diagn
, vol.22
, pp. 933-940
-
-
Gooding, H.C.1
Boehm, K.2
Thompson, R.E.3
Hadley, D.4
Francomano, C.A.5
Biesecker, B.B.6
-
10
-
-
80052592710
-
Prenatal diagnosis for hereditary deaf families assisted by genetic testing
-
Han B, Dai P, Qi QW, Wang LX, Wang Y, Bian XM, Wang QJ, Zhang X, Kang DY, Wang GJ, Han DY. 2007. Prenatal diagnosis for hereditary deaf families assisted by genetic testing. Chin J Otorhinolaryngol Head Neck Surg 42: 660-663.
-
(2007)
Chin J Otorhinolaryngol Head Neck Surg
, vol.42
, pp. 660-663
-
-
Han, B.1
Dai, P.2
Qi, Q.W.3
Wang, L.X.4
Wang, Y.5
Bian, X.M.6
Wang, Q.J.7
Zhang, X.8
Kang, D.Y.9
Wang, G.J.10
Han, D.Y.11
-
11
-
-
0035142853
-
Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis
-
Henneman L, Bramsen I, Van Os TA, Reuling IE, Heyerman HG, van der Laag J, van der Ploeg HM, ten Kate LP. 2001. Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis. Prenat Diagn 21: 1-9.
-
(2001)
Prenat Diagn
, vol.21
, pp. 1-9
-
-
Henneman, L.1
Bramsen, I.2
Van Os, T.A.3
Reuling, I.E.4
Heyerman, H.G.5
van der Laag, J.6
van der Ploeg, H.M.7
ten Kate, L.P.8
-
12
-
-
35948965957
-
Parental narratives about genetic testing for hearing loss: A one year follow up study
-
Kaimal G, Steinberg AG, Ennis S, Harasink SM, Ewing R, Li Y. 2007. Parental narratives about genetic testing for hearing loss: A one year follow up study. J Genet Couns 16: 775-787.
-
(2007)
J Genet Couns
, vol.16
, pp. 775-787
-
-
Kaimal, G.1
Steinberg, A.G.2
Ennis, S.3
Harasink, S.M.4
Ewing, R.5
Li, Y.6
-
13
-
-
0032916138
-
Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis
-
Lafayette D, Abuelo D, Passero M, Tantravahi U. 1999. Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis. J Genet Couns 8: 17-36.
-
(1999)
J Genet Couns
, vol.8
, pp. 17-36
-
-
Lafayette, D.1
Abuelo, D.2
Passero, M.3
Tantravahi, U.4
-
14
-
-
0026795732
-
The Charcot-Marie-Tooth syndrome: Perceptions of disability and projected use of DNA diagnostic tests
-
MacMillan J, Harper P. 1992. The Charcot-Marie-Tooth syndrome: Perceptions of disability and projected use of DNA diagnostic tests. Clin Genet 42: 161-163.
-
(1992)
Clin Genet
, vol.42
, pp. 161-163
-
-
MacMillan, J.1
Harper, P.2
-
15
-
-
0043244866
-
Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness
-
Martinez A, Linden J, Schimmenti LA, Palmer CG. 2003. Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness. Genet Med 5: 106-112.
-
(2003)
Genet Med
, vol.5
, pp. 106-112
-
-
Martinez, A.1
Linden, J.2
Schimmenti, L.A.3
Palmer, C.G.4
-
16
-
-
0032231301
-
Attitudes of deaf adults toward genetic testing for hereditary deafness
-
Middleton A, Hewison J, Mueller RF. 1998. Attitudes of deaf adults toward genetic testing for hereditary deafness. Am J Hum Genet 63: 1175-1180.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1175-1180
-
-
Middleton, A.1
Hewison, J.2
Mueller, R.F.3
-
17
-
-
0035321843
-
Prenatal diagnosis for inherited deafness-What is the potential demand?
-
Middleton A, Hewison J, Mueller R. 2001. Prenatal diagnosis for inherited deafness-What is the potential demand? J Genet Couns 10: 121-131.
-
(2001)
J Genet Couns
, vol.10
, pp. 121-131
-
-
Middleton, A.1
Hewison, J.2
Mueller, R.3
-
18
-
-
0036705951
-
Living with Marfan syndrome III. Quality of life and reproductive planning
-
Peters K, Kong F, Hanslo M, Biesecker B. 2002. Living with Marfan syndrome III. Quality of life and reproductive planning. Clin Genet 62: 110-120.
-
(2002)
Clin Genet
, vol.62
, pp. 110-120
-
-
Peters, K.1
Kong, F.2
Hanslo, M.3
Biesecker, B.4
-
19
-
-
84871709777
-
-
Sleeboom-Faulkner M, editor. Amsterdam: University Press. pp -.
-
Saxena R, Sharma S, Nahar R, Kohli S, Puri R, Verma IC. 2010. Frameworks of choice-predictive and genetic testing in Asia. In: Sleeboom-Faulkner M, editor. Amsterdam: University Press. pp 91-107.
-
(2010)
Frameworks of choice-predictive and genetic testing in Asia
, pp. 91-107
-
-
Saxena, R.1
Sharma, S.2
Nahar, R.3
Kohli, S.4
Puri, R.5
Verma, I.C.6
-
20
-
-
7144228618
-
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
-
Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC. 1998. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 11: 387-394.
-
(1998)
Hum Mutat
, vol.11
, pp. 387-394
-
-
Scott, D.A.1
Kraft, M.L.2
Carmi, R.3
Ramesh, A.4
Elbedour, K.5
Yairi, Y.6
Srisailapathy, C.R.7
Rosengren, S.S.8
Markham, A.F.9
Mueller, R.F.10
Lench, N.J.11
Van Camp, G.12
Smith, R.J.13
Sheffield, V.C.14
-
21
-
-
0030015982
-
Attitudes towards bipolar disorder and predictive genetic testing among patients and providers
-
Smith LB, Sapers B, Reus VI, Freimer NB. 1996. Attitudes towards bipolar disorder and predictive genetic testing among patients and providers. J Med Genet 33: 544-549.
-
(1996)
J Med Genet
, vol.33
, pp. 544-549
-
-
Smith, L.B.1
Sapers, B.2
Reus, V.I.3
Freimer, N.B.4
-
22
-
-
0036085178
-
Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss
-
Stern SJ, Arnos KS, Murrelle L, Welch KO, Nance WE, Pandya A. 2002. Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss. J Med Genet 39: 449-453.
-
(2002)
J Med Genet
, vol.39
, pp. 449-453
-
-
Stern, S.J.1
Arnos, K.S.2
Murrelle, L.3
Welch, K.O.4
Nance, W.E.5
Pandya, A.6
-
23
-
-
4344598964
-
Attitudes of deaf individuals towards genetic testing
-
Taneja PR, Pandya A, Foley DL, Nicely LV, Arnos KS. 2004. Attitudes of deaf individuals towards genetic testing. Am J Med Genet Part A 130A: 17-21.
-
(2004)
Am J Med Genet Part A
, vol.130 A
, pp. 17-21
-
-
Taneja, P.R.1
Pandya, A.2
Foley, D.L.3
Nicely, L.V.4
Arnos, K.S.5
-
24
-
-
65549110692
-
Attitudes towards prenatal diagnosis of deafness among parents to children with cochlear implants
-
Thorsen A, Devantier L, Ovesen T. 2009. Attitudes towards prenatal diagnosis of deafness among parents to children with cochlear implants. Ugeskr Laeger 171: 1387-1391.
-
(2009)
Ugeskr Laeger
, vol.171
, pp. 1387-1391
-
-
Thorsen, A.1
Devantier, L.2
Ovesen, T.3
-
25
-
-
44949119539
-
Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss
-
Withrow KA, Burton S, Arnos KS, Kalfoglou A, Pandya A. 2008. Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss. J Genet Couns 17: 252-260.
-
(2008)
J Genet Couns
, vol.17
, pp. 252-260
-
-
Withrow, K.A.1
Burton, S.2
Arnos, K.S.3
Kalfoglou, A.4
Pandya, A.5
-
26
-
-
66349132463
-
Impact of genetic advances and testing for hearing loss: Results from a national consumer survey
-
Withrow KA, Tracy KA, Burton SK, Norris VW, Maes HH, Arnos KS, Pandya A. 2009. Impact of genetic advances and testing for hearing loss: Results from a national consumer survey. Am J Med Genet Part A 149A: 1159-1168.
-
(2009)
Am J Med Genet Part A
, vol.149 A
, pp. 1159-1168
-
-
Withrow, K.A.1
Tracy, K.A.2
Burton, S.K.3
Norris, V.W.4
Maes, H.H.5
Arnos, K.S.6
Pandya, A.7
|