-
1
-
-
0019510289
-
Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin
-
Anton-Lamprecht I., Rauskolb R., Jovanovic V., Kern B., Arnold M.L., Schenck W. Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin. Lancet. 2:1981;1077-1079.
-
(1981)
Lancet
, vol.2
, pp. 1077-1079
-
-
Anton-Lamprecht, I.1
Rauskolb, R.2
Jovanovic, V.3
Kern, B.4
Arnold, M.L.5
Schenck, W.6
-
2
-
-
0027376504
-
Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples
-
Holbrook K.A., Smith L.T., Elias S. Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples. Arch Dermatol. 129:1993;1437-1454.
-
(1993)
Arch Dermatol
, vol.129
, pp. 1437-1454
-
-
Holbrook, K.A.1
Smith, L.T.2
Elias, S.3
-
3
-
-
0028143664
-
Ultrastructural clues to genetic disorders of skin: The dermal-epidermal junction
-
Eady R.A., McGrath J.A., McMillan J.R. Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction. J Invest Dermatol. 103:1994;13-18.
-
(1994)
J Invest Dermatol
, vol.103
, pp. 13-18
-
-
Eady, R.A.1
McGrath, J.A.2
McMillan, J.R.3
-
4
-
-
0022535732
-
Rapid prenatal diagnosis and exclusion of epidermolysis bullosa using novel antibody probes
-
Heagerty A.H., Kennedy A.R., Gunner D.B., Eady R.A. Rapid prenatal diagnosis and exclusion of epidermolysis bullosa using novel antibody probes. J Invest Dermatol. 86:1986;603-605.
-
(1986)
J Invest Dermatol
, vol.86
, pp. 603-605
-
-
Heagerty, A.H.1
Kennedy, A.R.2
Gunner, D.B.3
Eady, R.A.4
-
5
-
-
0030093659
-
Prenatal diagnosis of inherited skin diseases
-
Shimizu H. Prenatal diagnosis of inherited skin diseases. Keio J Med. 45:1996;28-36.
-
(1996)
Keio J Med
, vol.45
, pp. 28-36
-
-
Shimizu, H.1
-
6
-
-
0029669182
-
Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)
-
Christiano A.M., LaForgia S., Paller A.S., McGuire J., Shimizu H., Uitto J. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). Mol Med. 2:1996;59-76.
-
(1996)
Mol Med
, vol.2
, pp. 59-76
-
-
Christiano, A.M.1
Laforgia, S.2
Paller, A.S.3
McGuire, J.4
Shimizu, H.5
Uitto, J.6
-
7
-
-
0028939042
-
DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for reccurrence
-
Hovnanian A., Hilal L., Blanchet-Bardon C. et al. DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for reccurrence. J Invest Dermatol. 104:1995;456-461.
-
(1995)
J Invest Dermatol
, vol.104
, pp. 456-461
-
-
Hovnanian, A.1
Hilal, L.2
Blanchet-Bardon, C.3
-
8
-
-
0031001251
-
Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa
-
Christiano A.M., Pulkkinen L., McGrath J.A., Uitto J. Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn. 17:1997;343-354.
-
(1997)
Prenat Diagn
, vol.17
, pp. 343-354
-
-
Christiano, A.M.1
Pulkkinen, L.2
McGrath, J.A.3
Uitto, J.4
-
9
-
-
0031930182
-
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing
-
Takizawa Y., Shimizu H., Pulkkinen L. et al. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. J Invest Dermatol. 110:1998;174-178.
-
(1998)
J Invest Dermatol
, vol.110
, pp. 174-178
-
-
Takizawa, Y.1
Shimizu, H.2
Pulkkinen, L.3
-
10
-
-
0344446294
-
Taking epidermolysis bullosa simplex from mutation analysis to prenatal diagnosis
-
Rugg E.L., Shemanko C.S., Magee GJ, Batty D., Boxer M., Lane E.B. Taking epidermolysis bullosa simplex from mutation analysis to prenatal diagnosis. J Invest Dermatol. 108:1997;597.
-
(1997)
J Invest Dermatol
, vol.108
, pp. 597
-
-
Rugg, E.L.1
Shemanko, C.S.2
Magee, G.J.3
Batty, D.4
Boxer, M.5
Lane, E.B.6
-
11
-
-
0028246228
-
Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene
-
Shimizu H., Niizeki H., Suzumori K. et al. Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene. J Invest Dermatol. 103:1994;104-106.
-
(1994)
J Invest Dermatol
, vol.103
, pp. 104-106
-
-
Shimizu, H.1
Niizeki, H.2
Suzumori, K.3
-
12
-
-
0028012903
-
Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing
-
Rothnagel J.A., Longley M.A., Holder R.A., Kuster W., Roop D.R. Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. J Invest Dermatol. 102:1994;13-16.
-
(1994)
J Invest Dermatol
, vol.102
, pp. 13-16
-
-
Rothnagel, J.A.1
Longley, M.A.2
Holder, R.A.3
Kuster, W.4
Roop, D.R.5
-
13
-
-
0031437319
-
First prenatal diagnosis by mutation analysis in a family with Sjogren-Larsson syndrome
-
Sillen A., Holmgren G., Wadelius C. First prenatal diagnosis by mutation analysis in a family with Sjogren-Larsson syndrome. Prenat Diagn. 17:1997;1147-1149.
-
(1997)
Prenat Diagn
, vol.17
, pp. 1147-1149
-
-
Sillen, A.1
Holmgren, G.2
Wadelius, C.3
-
14
-
-
0031907516
-
Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene
-
Bichakjian C.K., Nair R.P., Wu W.W., Goldberg S., Elder J.T. Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene. J Invest Dermatol. 110:1998;179-182.
-
(1998)
J Invest Dermatol
, vol.110
, pp. 179-182
-
-
Bichakjian, C.K.1
Nair, R.P.2
Wu, W.W.3
Goldberg, S.4
Elder, J.T.5
-
15
-
-
0030805486
-
Fabry disease: Molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1
-
Caggana M., Ashley G.A., Desnick R.J., Eng C.M. Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1. Am J Med Genet. 71:1997;329-335.
-
(1997)
Am J Med Genet
, vol.71
, pp. 329-335
-
-
Caggana, M.1
Ashley, G.A.2
Desnick, R.J.3
Eng, C.M.4
-
16
-
-
0027935897
-
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation
-
Bunge S., Steglich C., Lorenz P. et al. Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation. Prenat Diagn. 14:1994;777-780.
-
(1994)
Prenat Diagn
, vol.14
, pp. 777-780
-
-
Bunge, S.1
Steglich, C.2
Lorenz, P.3
-
17
-
-
0026067709
-
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry
-
Fine J.D., Bauer E.A., Briggaman R.A. et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol. 24:1991;119-135.
-
(1991)
J Am Acad Dermatol
, vol.24
, pp. 119-135
-
-
Fine, J.D.1
Bauer, E.A.2
Briggaman, R.A.3
-
19
-
-
0017316761
-
Ultrastructural studies in epidermolysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopean-Siemens types and Inversa type)
-
Hashimoto I., Schnyder U.W., Anton-Lumprecht I., Gedde D.T.J. Ultrastructural studies in epidermolysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopean-Siemens types and Inversa type). Arch Dermatol Res. 256:1976;137-150.
-
(1976)
Arch Dermatol Res
, vol.256
, pp. 137-150
-
-
Hashimoto, I.1
Schnyder, U.W.2
Anton-Lumprecht, I.3
Gedde, D.T.J.4
-
20
-
-
0018890576
-
Prenatal diagnosis of epidermolysis bullosa letalis
-
Rodeck C.H., Eady R.A., Gosden C.M. Prenatal diagnosis of epidermolysis bullosa letalis. Lancet. 1:1980;949-952.
-
(1980)
Lancet
, vol.1
, pp. 949-952
-
-
Rodeck, C.H.1
Eady, R.A.2
Gosden, C.M.3
-
21
-
-
0025234821
-
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia
-
Nazzaro V., Nicolini U., De L.L., Berti E., Caputo R. Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. J Med Genet. 27:1990;244-248.
-
(1990)
J Med Genet
, vol.27
, pp. 244-248
-
-
Nazzaro, V.1
Nicolini, U.2
De, L.L.3
Berti, E.4
Caputo, R.5
-
22
-
-
0022570309
-
GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa
-
Heagerty A.H., Kennedy A.R., Eady R.A. et al. GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa. Lancet. 1:1986;860.
-
(1986)
Lancet
, vol.1
, pp. 860
-
-
Heagerty, A.H.1
Kennedy, A.R.2
Eady, R.A.3
-
23
-
-
0022455275
-
Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: Use in diagnosis
-
Heagerty A.H., Kennedy A.R., Leigh I.M., Purkis P., Eady R.A. Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis. Br J Dermatol. 115:1986;125-131.
-
(1986)
Br J Dermatol
, vol.115
, pp. 125-131
-
-
Heagerty, A.H.1
Kennedy, A.R.2
Leigh, I.M.3
Purkis, P.4
Eady, R.A.5
-
24
-
-
0025336483
-
Applicability of 19-DEJ-1 monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa
-
Fine J.D., Holbrook K.A., Elias S., Anton L.I., Rauskolb R. Applicability of 19-DEJ-1 monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa. Prenat Diagn. 10:1990;219-229.
-
(1990)
Prenat Diagn
, vol.10
, pp. 219-229
-
-
Fine, J.D.1
Holbrook, K.A.2
Elias, S.3
Anton, L.I.4
Rauskolb, R.5
-
25
-
-
0027932161
-
Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syndrome
-
Shimizu H., Fine J.D., Suzumori K., Hatta N., Shozu M., Nishikawa T. Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syndrome. J Am Acad Dermatol. 31:1994;429-433.
-
(1994)
J Am Acad Dermatol
, vol.31
, pp. 429-433
-
-
Shimizu, H.1
Fine, J.D.2
Suzumori, K.3
Hatta, N.4
Shozu, M.5
Nishikawa, T.6
-
26
-
-
0029793261
-
Absence of detectable α6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome and its application for prenatal diagnosis in a family at risk for recurrence
-
Shimizu H., Suzumori K., Hatta N., Nishikawa T. Absence of detectable α6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome and its application for prenatal diagnosis in a family at risk for recurrence. Arch Dermatol. 132:1996;919-925.
-
(1996)
Arch Dermatol
, vol.132
, pp. 919-925
-
-
Shimizu, H.1
Suzumori, K.2
Hatta, N.3
Nishikawa, T.4
-
27
-
-
0030735788
-
Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1)
-
Jarvikallio A., Pulkkinen L., Uitto J. Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1). Hum Mutat. 10:1997;338-347.
-
(1997)
Hum Mutat
, vol.10
, pp. 338-347
-
-
Jarvikallio, A.1
Pulkkinen, L.2
Uitto, J.3
-
28
-
-
0027962337
-
Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: Mutations in the type VII collagen and kalinin (laminin 5) genes
-
Uitto J., Pulkkinen L., Christiano A.M. Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. J Invest Dermatol. 103:1994;39-46.
-
(1994)
J Invest Dermatol
, vol.103
, pp. 39-46
-
-
Uitto, J.1
Pulkkinen, L.2
Christiano, A.M.3
-
30
-
-
0030029420
-
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa
-
Kivirikko S., McGrath J.A., Pulkkinen L., Uitto J., Christiano A.M. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet. 5:1996;231-237.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 231-237
-
-
Kivirikko, S.1
McGrath, J.A.2
Pulkkinen, L.3
Uitto, J.4
Christiano, A.M.5
-
31
-
-
8044260815
-
Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa
-
Shimizu H., Takizawa Y., McGrath J.A. et al. Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa. Arch Dermatol Res. 289:1997;174-176.
-
(1997)
Arch Dermatol Res
, vol.289
, pp. 174-176
-
-
Shimizu, H.1
Takizawa, Y.2
McGrath, J.A.3
-
32
-
-
0028075997
-
Junctional epidermolysis bullosis: Defects in expression of epiligrin/nicein/kalinin and integrin beta 4 that inhibit hemidesmosome formation
-
Gil S.G., Brown T.A., Ryan M.C., Carter W.G. Junctional epidermolysis bullosis: defects in expression of epiligrin/nicein/kalinin and integrin beta 4 that inhibit hemidesmosome formation. J Invest Dermatol. 103:1994;31-38.
-
(1994)
J Invest Dermatol
, vol.103
, pp. 31-38
-
-
Gil, S.G.1
Brown, T.A.2
Ryan, M.C.3
Carter, W.G.4
-
33
-
-
0030611108
-
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia
-
Pulkkinen L., Kimonis V.E., Xu Y., Spanou E.N., McLean W.H., Uitto J. Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet. 6:1997;669-674.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 669-674
-
-
Pulkkinen, L.1
Kimonis, V.E.2
Xu, Y.3
Spanou, E.N.4
McLean, W.H.5
Uitto, J.6
-
34
-
-
0030912738
-
A homozygous mutation in the integrin α6 gene in junctional epidermolysis bullosa with pyloric atresia
-
Ruzzi L., Gagnoux-Palacios L., Pinola M. et al. A homozygous mutation in the integrin α6 gene in junctional epidermolysis bullosa with pyloric atresia. J Clin Invest. 99:1997;2826-2831.
-
(1997)
J Clin Invest
, vol.99
, pp. 2826-2831
-
-
Ruzzi, L.1
Gagnoux-Palacios, L.2
Pinola, M.3
-
35
-
-
0028989243
-
Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
-
Vidal F., Aberdam D., Miquel C. et al. Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet. 10:1995;229-234.
-
(1995)
Nat Genet
, vol.10
, pp. 229-234
-
-
Vidal, F.1
Aberdam, D.2
Miquel, C.3
-
36
-
-
0030905241
-
Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa with pyloric atresia and negative basement membrane zone immunofluorescence for the α6 integrin subuint
-
Takizawa Y., Shimizu H., Hatta N., Nishikawa T., Pulkkinen L., Uitto J. Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa with pyloric atresia and negative basement membrane zone immunofluorescence for the α6 integrin subuint. J Invest Dermatol. 108:1997;943-946.
-
(1997)
J Invest Dermatol
, vol.108
, pp. 943-946
-
-
Takizawa, Y.1
Shimizu, H.2
Hatta, N.3
Nishikawa, T.4
Pulkkinen, L.5
Uitto, J.6
-
38
-
-
0027417524
-
Tyrosinase gene mutations causing oculocutaneous albinisms
-
Tomita Y. Tyrosinase gene mutations causing oculocutaneous albinisms. J Invest Dermatol. 100:1993;186-190.
-
(1993)
J Invest Dermatol
, vol.100
, pp. 186-190
-
-
Tomita, Y.1
-
39
-
-
0031013749
-
Technical advances in prenatal diagnosis of tyrosinase negative oculocutaneous albinism
-
Shimizu H. Technical advances in prenatal diagnosis of tyrosinase negative oculocutaneous albinism. Acta Dermato-Venereol. 77:1997;10-13.
-
(1997)
Acta Dermato-Venereol
, vol.77
, pp. 10-13
-
-
Shimizu, H.1
-
40
-
-
0020695709
-
Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin
-
Eady R.A., Gunner D.B., Garner A., Rodeck C.H. Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin. J Invest Dermatol. 80:1983;210-212.
-
(1983)
J Invest Dermatol
, vol.80
, pp. 210-212
-
-
Eady, R.A.1
Gunner, D.B.2
Garner, A.3
Rodeck, C.H.4
-
41
-
-
0026808572
-
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism
-
Shimizu H., Ishiko A., Kikuchi A., Akiyama M., Suzumori K., Nishikawa T. Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. Lancet. 340:1992;739-740.
-
(1992)
Lancet
, vol.340
, pp. 739-740
-
-
Shimizu, H.1
Ishiko, A.2
Kikuchi, A.3
Akiyama, M.4
Suzumori, K.5
Nishikawa, T.6
-
42
-
-
0020953640
-
The biology of human fetal skin at ages related to prenatal diagnosis
-
Holbrook K.A. The biology of human fetal skin at ages related to prenatal diagnosis. Pediatr Dermatol. 1:1983;97-111.
-
(1983)
Pediatr Dermatol
, vol.1
, pp. 97-111
-
-
Holbrook, K.A.1
-
43
-
-
0028451590
-
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin
-
Shimizu H., Ishiko A., Kikuchi A., Akiyama M., Suzumori K., Nishikawa T. Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin. Prenat Diagn. 14:1994;442-450.
-
(1994)
Prenat Diagn
, vol.14
, pp. 442-450
-
-
Shimizu, H.1
Ishiko, A.2
Kikuchi, A.3
Akiyama, M.4
Suzumori, K.5
Nishikawa, T.6
-
44
-
-
0024433692
-
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene
-
Tomita Y., Takeda A., Okinaga S., Tagami H., Shibahara S. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun. 164:1989;990-996.
-
(1989)
Biochem Biophys Res Commun
, vol.164
, pp. 990-996
-
-
Tomita, Y.1
Takeda, A.2
Okinaga, S.3
Tagami, H.4
Shibahara, S.5
-
45
-
-
0028937722
-
DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)
-
Falik Borenstein T.C., Holmes S.A., Borochowitz Z., Levin A., Rosenmann A., Spritz R.A. DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A). Prenat Diagn. 15:1995;345-349.
-
(1995)
Prenat Diagn
, vol.15
, pp. 345-349
-
-
Falik Borenstein, T.C.1
Holmes, S.A.2
Borochowitz, Z.3
Levin, A.4
Rosenmann, A.5
Spritz, R.A.6
-
46
-
-
0023124882
-
Genetically transmitted, generalized disorders of cornification; The ichthyoses
-
Williams M.L., Elias P.M. Genetically transmitted, generalized disorders of cornification; the ichthyoses. Dermatol Clin. 5:1987;155-178.
-
(1987)
Dermatol Clin
, vol.5
, pp. 155-178
-
-
Williams, M.L.1
Elias, P.M.2
-
47
-
-
0031862812
-
Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses
-
Akiyama M., Dale B.A., Smith L.T., Shimizu H., Holbrook K.A. Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses. Prenat Diagn. 18:1998;425-436.
-
(1998)
Prenat Diagn
, vol.18
, pp. 425-436
-
-
Akiyama, M.1
Dale, B.A.2
Smith, L.T.3
Shimizu, H.4
Holbrook, K.A.5
-
48
-
-
0028069212
-
Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells
-
Akiyama M., Kim D.K., Main D.M., Otto C.E., Holbrook K.A. Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells. J Invest Dermatol. 102:1994;210-213.
-
(1994)
J Invest Dermatol
, vol.102
, pp. 210-213
-
-
Akiyama, M.1
Kim, D.K.2
Main, D.M.3
Otto, C.E.4
Holbrook, K.A.5
-
50
-
-
0025822408
-
Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; Report of two cases
-
Suzumori K., Kanzaki T. Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases. Prenat Diagn. 11:1991;451-457.
-
(1991)
Prenat Diagn
, vol.11
, pp. 451-457
-
-
Suzumori, K.1
Kanzaki, T.2
-
51
-
-
0030904122
-
Preimplantation genetic diagnosis: Strategies and surprises
-
Handyside A.H., Delhanty J.D.A. Preimplantation genetic diagnosis: strategies and surprises. Trends Genet. 13:1997;270-275.
-
(1997)
Trends Genet
, vol.13
, pp. 270-275
-
-
Handyside, A.H.1
Delhanty, J.D.A.2
-
52
-
-
0025180503
-
Human preimplantation development in vitro is not adversely affected by biopsy at the 8 cell stage
-
Hardy K., Martin K.L., Leese H.J., Winston R.M.L. Human preimplantation development in vitro is not adversely affected by biopsy at the 8 cell stage. Hum Reprod. 5:1990;708-714.
-
(1990)
Hum Reprod
, vol.5
, pp. 708-714
-
-
Hardy, K.1
Martin, K.L.2
Leese, H.J.3
Winston, R.M.L.4
-
53
-
-
0031953767
-
Preimplantation genetic diagnosis of severe inherited skin diseases
-
McGrath J.A., Handyside A.H. Preimplantation genetic diagnosis of severe inherited skin diseases. Exp Dermatol. 7:1998;65-72.
-
(1998)
Exp Dermatol
, vol.7
, pp. 65-72
-
-
McGrath, J.A.1
Handyside, A.H.2
-
54
-
-
0342878123
-
Preimplantation genetic diagnosis in a family at risk for recurrence of Herlitz junctional epidermolysis bullosa
-
Cserhalmi-Friedman P.B., Tang Y., Grifo J.A., Christiano A.M. Preimplantation genetic diagnosis in a family at risk for recurrence of Herlitz junctional epidermolysis bullosa. J Invest Dermatol. 110:1998;485(abstract).
-
(1998)
J Invest Dermatol
, vol.110
-
-
Cserhalmi-Friedman, P.B.1
Tang, Y.2
Grifo, J.A.3
Christiano, A.M.4
-
55
-
-
0029992813
-
Prenatal diagnosis of Duchenne muscular dystrophy using a single fetal nucleated erythrocyte in maternal blood
-
Sekizawa A., Kimura T., Sasaki M., Nakamura S., Kobayashi R., Sato T. Prenatal diagnosis of Duchenne muscular dystrophy using a single fetal nucleated erythrocyte in maternal blood. Neurology. 46:1996;1350-1353.
-
(1996)
Neurology
, vol.46
, pp. 1350-1353
-
-
Sekizawa, A.1
Kimura, T.2
Sasaki, M.3
Nakamura, S.4
Kobayashi, R.5
Sato, T.6
-
56
-
-
0029947544
-
Prenatal diagnosis of the fetal RhD blood type using a single fetal nucleated erythrocyte from maternal blood
-
Sekizawa A., Watanabe A., Kimura T., Saito H., Yanaihara T., Sato T. Prenatal diagnosis of the fetal RhD blood type using a single fetal nucleated erythrocyte from maternal blood. Obstet Gynecol. 87:1996;501-505.
-
(1996)
Obstet Gynecol
, vol.87
, pp. 501-505
-
-
Sekizawa, A.1
Watanabe, A.2
Kimura, T.3
Saito, H.4
Yanaihara, T.5
Sato, T.6
-
57
-
-
0028816763
-
Development of non-invasive fetal DNA diagnosis from maternal blood
-
Takabayashi H., Kuwabara S., Ukita T., Ikawa K., Yamafuji K., Igarashi T. Development of non-invasive fetal DNA diagnosis from maternal blood. Prenat Diagn. 15:1995;74-77.
-
(1995)
Prenat Diagn
, vol.15
, pp. 74-77
-
-
Takabayashi, H.1
Kuwabara, S.2
Ukita, T.3
Ikawa, K.4
Yamafuji, K.5
Igarashi, T.6
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