-
1
-
-
0033022634
-
An analysis of common isodisomic regions in five mUPD 16 probands
-
Abu-Amero SN, Ali Z, Abu-Amero KK et al. An analysis of common isodisomic regions in five mUPD 16 probands. J Med Genet 1999: 36 (3): 204-207.
-
(1999)
J Med Genet
, vol.36
, Issue.3
, pp. 204-207
-
-
Abu-Amero, S.N.1
Ali, Z.2
Abu-Amero, K.K.3
-
2
-
-
0027474269
-
Uniparental disomy for chromosome 16 in humans
-
Kalousek DK, Langlois S, Barrett I et al. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 1993: 52 (1): 8-16.
-
(1993)
Am J Hum Genet
, vol.52
, Issue.1
, pp. 8-16
-
-
Kalousek, D.K.1
Langlois, S.2
Barrett, I.3
-
3
-
-
2442698074
-
Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion
-
Kondo Y, Tsukishiro S, Tanemura M et al. Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion. J Hum Genet 2004: 49 (4): 177-181.
-
(2004)
J Hum Genet
, vol.49
, Issue.4
, pp. 177-181
-
-
Kondo, Y.1
Tsukishiro, S.2
Tanemura, M.3
-
4
-
-
0031030493
-
The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babies
-
Moore GE, Ali Z, Khan RU et al. The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babies. Am J Obstet Gynecol 1997: 176 (2): 294-299.
-
(1997)
Am J Obstet Gynecol
, vol.176
, Issue.2
, pp. 294-299
-
-
Moore, G.E.1
Ali, Z.2
Khan, R.U.3
-
5
-
-
0028925188
-
An audit of trisomy 16 in man
-
Wolstenholme J. An audit of trisomy 16 in man. Prenat Diagn 1995: 15 (2): 109-121.
-
(1995)
Prenat Diagn
, vol.15
, Issue.2
, pp. 109-121
-
-
Wolstenholme, J.1
-
6
-
-
3142585297
-
Maternal uniparental disomy 16 and genetic counseling: New case and survey of published cases
-
Eggermann T, Curtis M, Zerres K et al. Maternal uniparental disomy 16 and genetic counseling: New case and survey of published cases. Genet Couns 2004: 15 (2): 183-190.
-
(2004)
Genet Couns
, vol.15
, Issue.2
, pp. 183-190
-
-
Eggermann, T.1
Curtis, M.2
Zerres, K.3
-
7
-
-
0027941823
-
Human maternal uniparental disomy for chromosome 16 and fetal development
-
Vaughan J, Ali Z, Bower S et al. Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn 1994: 14 (8): 751-756.
-
(1994)
Prenat Diagn
, vol.14
, Issue.8
, pp. 751-756
-
-
Vaughan, J.1
Ali, Z.2
Bower, S.3
-
8
-
-
0030472329
-
Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16
-
Schneider AS, Bischoff FZ, McCaskill C et al. Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16. Am J Med Genet 1996: 66 (2): 204-208.
-
(1996)
Am J Med Genet
, vol.66
, Issue.2
, pp. 204-208
-
-
Schneider, A.S.1
Bischoff, F.Z.2
McCaskill, C.3
-
9
-
-
0034118887
-
First confirmed case with paternal uniparental disomy of chromosome 16
-
Kohlhase J, Janssen B, Weidenauer K et al. First confirmed case with paternal uniparental disomy of chromosome 16. Am J Med Genet 2000: 91 (3): 190-191.
-
(2000)
Am J Med Genet
, vol.91
, Issue.3
, pp. 190-191
-
-
Kohlhase, J.1
Janssen, B.2
Weidenauer, K.3
-
11
-
-
0034597334
-
Maternal uniparental disomy of chromosome 16 and body stalk anomaly
-
Chan Y, Silverman N, Jackson L et al. Maternal uniparental disomy of chromosome 16 and body stalk anomaly. Am J Med Genet 2000: 94 (4): 284-286.
-
(2000)
Am J Med Genet
, vol.94
, Issue.4
, pp. 284-286
-
-
Chan, Y.1
Silverman, N.2
Jackson, L.3
-
12
-
-
34248219090
-
Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions
-
Puehringer H, Najmabadi H, Law HY et al. Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions. Clin Chem Lab Med 2007: 45 (5): 605-610.
-
(2007)
Clin Chem Lab Med
, vol.45
, Issue.5
, pp. 605-610
-
-
Puehringer, H.1
Najmabadi, H.2
Law, H.Y.3
-
13
-
-
0027473988
-
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy
-
Mutirangura A, Greenberg F, Butler MG et al. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 1993: 2 (2): 143-151.
-
(1993)
Hum Mol Genet
, vol.2
, Issue.2
, pp. 143-151
-
-
Mutirangura, A.1
Greenberg, F.2
Butler, M.G.3
-
14
-
-
0030978030
-
Initial genomic scan of the NIMH genetics initiative bipolar pedigrees: Chromosomes 3, 5, 15, 16, 17, and 22
-
Edenberg HJ, Foroud T, Conneally PM et al. Initial genomic scan of the NIMH genetics initiative bipolar pedigrees: Chromosomes 3, 5, 15, 16, 17, and 22. Am J Med Genet 1997: 74 (3): 238-246.
-
(1997)
Am J Med Genet
, vol.74
, Issue.3
, pp. 238-246
-
-
Edenberg, H.J.1
Foroud, T.2
Conneally, P.M.3
-
15
-
-
33750414558
-
A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements
-
Engel E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet 2006: 14 (11): 1158-1169.
-
(2006)
Eur J Hum Genet
, vol.14
, Issue.11
, pp. 1158-1169
-
-
Engel, E.1
-
16
-
-
0030821957
-
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa
-
Pulkkinen L, Bullrich F, Czarnecki P et al. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. Am J Hum Genet 1997: 61 (3): 611-619.
-
(1997)
Am J Hum Genet
, vol.61
, Issue.3
, pp. 611-619
-
-
Pulkkinen, L.1
Bullrich, F.2
Czarnecki, P.3
-
17
-
-
0030988550
-
Uniparental disomy in cartilage-hair hypoplasia
-
Sulisalo T, Makitie O, Sistonen P et al. Uniparental disomy in cartilage-hair hypoplasia. Eur J Hum Genet 1997: 5 (1): 35-42.
-
(1997)
Eur J Hum Genet
, vol.5
, Issue.1
, pp. 35-42
-
-
Sulisalo, T.1
Makitie, O.2
Sistonen, P.3
-
18
-
-
0024463137
-
Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
-
Voss R, Ben-Simon E, Avital A et al. Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans? Am J Hum Genet 1989: 45 (3): 373-380.
-
(1989)
Am J Hum Genet
, vol.45
, Issue.3
, pp. 373-380
-
-
Voss, R.1
Ben-Simon, E.2
Avital, A.3
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