thymidine and Abnormalities, Multiple studies

thymidine and Abnormalities, Multiple

Abnormalities, Multiple: Congenital abnormalities that affect more than one organ or body structure.

Research Excerpts

Excerpt	Relevance	Reference
"We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome."	8.75	[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. ( Kunze, J; Tolksdorf, M; Wiedemann, HR, 1975)
"We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome."	4.75	[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. ( Kunze, J; Tolksdorf, M; Wiedemann, HR, 1975)
"DiGeorge syndrome is broadly defined as absence or hypoplasia of the thymus due to dysmorphogenesis of the third and fourth pharyngeal pouches in early embryonic life."	1.25	T-cell deficiency in diGeorge syndrome. ( Huff, DS; Lischner, HW, 1975)
"A patient presenting with unilateral ectromelia, psoriasiform dermatosis and central nervous system abnormalities has been studied."	1.25	Syndrome of unilateral ectromelia, psoriasis and central nervous system anomalies. ( Frost, P; Nyhan, WL; Shear, CS; Weinstein, GD, 1971)

Research

Studies (31)

Timeframe	Studies, this research(%)	All Research%
pre-1990	30 (96.77)	18.7374
1990's	1 (3.23)	18.2507
2000's	0 (0.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Timeframe

Studies, this research(%)

All Research%

pre-1990

30 (96.77)

18.7374

1990's

1 (3.23)

18.2507

2000's

0 (0.00)

29.6817

2010's

0 (0.00)

24.3611

2020's

0 (0.00)

2.80

Authors

Authors	Studies
Longo, N	1
Kunze, J	1
Tolksdorf, M	1
Wiedemann, HR	1
Lafforet, D	1
Dupuy, JM	1
Schmickel, RD	1
Chu, EH	1
Trosko, JE	1
Chang, CC	1
Lischner, HW	1
Huff, DS	1
Bühler, EM	1
Müller, H	2
Stalder, GR	1
Werder, E	1
Mikkelsen, M	2
Dahl, G	1
Paton, GR	1
Silver, MF	1
Allison, AC	1
Tal'vik, TA	1
Mikel'saar, AV	1
Mikel'saar, RV	1
Surana, RB	2
Conen, PE	2
Braudo, M	1
Keith, JD	1
Moore, MA	1
Ekert, H	1
Fitzgerald, MG	1
Carmichael, A	1
Kakati, S	1
Nihill, M	1
Sinha, AK	1
Pfeiffer, RA	1
Bier, L	1
Majewski, F	1
Rager, K	1
Cooke, P	2
Black, JA	1
Curtis, DJ	1
De Chieri, PR	1
Albores, JM	1
Cosín, A	1
Cosín, JM	1
Hunt, TM	1
Schinzel, A	1
Schmid, W	1
Reiss, JA	1
Wyandt, HE	1
Magenis, RE	1
Lovrien, EW	1
Hecht, F	1
Fryns, JP	1
Eggermont, E	1
Veresen, H	1
Van den Berghe, H	1
Weber, FM	1
Sparkes, RS	1
McHugh, J	1
Wright, T	1
Shear, CS	1
Nyhan, WL	1
Frost, P	1
Weinstein, GD	1
Butler, LJ	1
Eades, SM	1
France, NE	1
Niebuhr, E	1
Moore, MK	1
Engel, E	1
Allderdice, PW	1
Davis, JG	1
Miller, OJ	2
Klinger, HP	1
Warburton, D	1
Miller, DA	1
Allen, FH	2
Abrams, CA	1
McGilvray, E	1
Bijlsma, JB	1
de France, H	1
Bleeker-Wagemakers, EM	1
Citoler, P	1
Gropp, A	1
Gullotta, F	1
Emerit, I	1
Vernant, P	1
Aarskog, D	1
De Capoa, A	1
Gold, AP	1
Koenigsberger, R	1

Studies

Longo, N

Kunze, J

Tolksdorf, M

Wiedemann, HR

Lafforet, D

Dupuy, JM

Schmickel, RD

Chu, EH

Trosko, JE

Chang, CC

Lischner, HW

Huff, DS

Bühler, EM

Müller, H

Stalder, GR

Werder, E

Mikkelsen, M

Dahl, G

Paton, GR

Silver, MF

Allison, AC

Tal'vik, TA

Mikel'saar, AV

Mikel'saar, RV

Surana, RB

Conen, PE

Braudo, M

Keith, JD

Moore, MA

Ekert, H

Fitzgerald, MG

Carmichael, A

Kakati, S

Nihill, M

Sinha, AK

Pfeiffer, RA

Bier, L

Majewski, F

Rager, K

Cooke, P

Black, JA

Curtis, DJ

De Chieri, PR

Albores, JM

Cosín, A

Cosín, JM

Hunt, TM

Schinzel, A

Schmid, W

Reiss, JA

Wyandt, HE

Magenis, RE

Lovrien, EW

Hecht, F

Fryns, JP

Eggermont, E

Veresen, H

Van den Berghe, H

Weber, FM

Sparkes, RS

McHugh, J

Wright, T

Shear, CS

Nyhan, WL

Frost, P

Weinstein, GD

Butler, LJ

Eades, SM

France, NE

Niebuhr, E

Moore, MK

Engel, E

Allderdice, PW

Davis, JG

Miller, OJ

Klinger, HP

Warburton, D

Miller, DA

Allen, FH

Abrams, CA

McGilvray, E

Bijlsma, JB

de France, H

Bleeker-Wagemakers, EM

Citoler, P

Gropp, A

Gullotta, F

Emerit, I

Vernant, P

Aarskog, D

De Capoa, A

Gold, AP

Koenigsberger, R

Reviews

1 review available for thymidine and Abnormalities, Multiple

Article	Year
[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. Humangenetik, 1975, Volume: 26, Issue:4 Topics: Abnormalities, Multiple; Alkaline Phosphatase; Anus, Imperforate; Autoradiography; Child, Preschool;	1975

Article

Year

[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].

Humangenetik, 1975, Volume: 26, Issue:4

Topics: Abnormalities, Multiple; Alkaline Phosphatase; Anus, Imperforate; Autoradiography; Child, Preschool;

1975

Other Studies

30 other studies available for thymidine and Abnormalities, Multiple

Article	Year
Defective receptors for platelet-derived growth factor AA in human fibroblasts with mutant insulin receptors. Biochemical and biophysical research communications, 1993, Dec-15, Volume: 197, Issue:2 Topics: Abnormalities, Multiple; Becaplermin; DNA; Epidermal Growth Factor; Fibroblasts; Humans; Insulin; In	1993
[Photosensitization and DNA repair. Possible nosologic relationship between Xeroderma pigmentosum and Cockayne's syndrome]. Archives francaises de pediatrie, 1978, Volume: 35, Issue:10 Suppl Topics: Abnormalities, Multiple; Child; Child, Preschool; Diagnosis, Differential; DNA Ligases; DNA Repair;	1978
Cockayne syndrome: a cellular sensitivity to ultraviolet light. Pediatrics, 1977, Volume: 60, Issue:2 Topics: Abnormalities, Multiple; Child, Preschool; Chromosomes, Human, 6-12 and X; Dwarfism; Female; Fibrobl	1977
T-cell deficiency in diGeorge syndrome. Birth defects original article series, 1975, Volume: 11, Issue:1 Topics: Abnormalities, Multiple; Autoradiography; Graft Rejection; Hypersensitivity, Delayed; Immune Adheren	1975
A strongly fluorescing abnormal chromosome in a malformed child. Humangenetik, 1971, Volume: 12, Issue:1 Topics: Abnormalities, Multiple; Child; Chromosome Aberrations; Female; Fluorescence; Humans; Quinacrine; Se	1971
Unbalanced X-autosomal translocation with inactivation of the normal X chromosome. Cytogenetics and cell genetics, 1973, Volume: 12, Issue:5 Topics: Abnormalities, Multiple; ABO Blood-Group System; Adult; Autoradiography; Chromosome Aberrations; Chr	1973
Comparison of cell cycle time in normal and trisomic cells. Humangenetik, 1974, Volume: 23, Issue:3 Topics: Abnormalities, Multiple; Autoradiography; Biopsy; Cell Division; Cells, Cultured; Chromosomes, Human	1974
Familial translocation between chromosomes of groups C and D (46, T(Cq-;Dq+). Soviet genetics, 1974, Jun-01, Volume: 8, Issue:5 Topics: Abnormalities, Multiple; Adult; Autoradiography; Child, Preschool; Chromosome Aberrations; Chromosom	1974
Familial tertiary trisomy with t (14q-; 1 plus?). Birth defects original article series, 1974, Volume: 10, Issue:8 Topics: Abnormalities, Multiple; Autoradiography; Chromosomes, Human, 1-3; Chromosomes, Human, 13-15; Clubfo	1974
Evidence for the clonal origin of chronic myeloid leukemia from a sex chromosome mosaic: clinical, cytogenetic, and marrow culture studies. Blood, 1974, Volume: 43, Issue:1 Topics: Abnormalities, Multiple; Bone Marrow Cells; Bone Marrow Examination; Busulfan; Cells, Cultured; Chil	1974
An attempt to establish trisomy 8 syndrome. Humangenetik, 1973, Sep-20, Volume: 19, Issue:3 Topics: Abnormalities, Multiple; Autoradiography; Chromosomes, Human, 6-12 and X; Female; Humans; Infant; Ka	1973
De novo translocation t(Yq-; 15p+) in a malformed boy. Humangenetik, 1973, Sep-20, Volume: 19, Issue:3 Topics: Abnormalities, Multiple; Autoradiography; Child; Child, Preschool; Chromosome Aberrations; Chromosom	1973
Comparative clinical studies and X chromosome behaviour in a case of XXXX-XXXXX mosaicism. Journal of medical genetics, 1972, Volume: 9, Issue:2 Topics: Abnormalities, Multiple; Autoradiography; Dermatoglyphics; Female; Humans; Infant; Intellectual Disa	1972
A human ring C chromosome associated with multiple congenital abnormalities. Journal of medical genetics, 1972, Volume: 9, Issue:2 Topics: Abnormalities, Multiple; Autoradiography; Blood Protein Electrophoresis; Bone Marrow Cells; Chromoso	1972
Multiple congenital defects associated with an abnormal unclassifiable karyotype. Journal of medical genetics, 1972, Volume: 9, Issue:2 Topics: Abnormalities, Multiple; Autoradiography; Chromosomes; Dermatoglyphics; Fibroblasts; Humans; Karyoty	1972
[Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father]. Humangenetik, 1972, Volume: 15, Issue:2 Topics: Abnormalities, Multiple; Autoradiography; Chromosome Aberrations; Chromosome Disorders; Chromosomes,	1972
Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-). Journal of medical genetics, 1972, Volume: 9, Issue:3 Topics: Abnormalities, Multiple; Adult; Aneuploidy; Autoradiography; Blood Group Antigens; Child; Chromosome	1972
A newborn with the cat-eye syndrome. Humangenetik, 1972, Volume: 15, Issue:3 Topics: Abnormalities, Multiple; Adolescent; Adult; Anal Canal; Autoradiography; Cells, Cultured; Child; Chi	1972
Double monosomy mosaicism (45,X-45, XX,21-) in a retarded child with multiple congenital malformations. Cytogenetics, 1971, Volume: 10, Issue:6 Topics: Abnormalities, Multiple; Aneuploidy; Autoradiography; Blood Protein Electrophoresis; Bone Marrow Cel	1971
A family showing transmission of a translocation t(3porq-;Cq+). Journal of medical genetics, 1971, Volume: 8, Issue:4 Topics: Abnormalities, Multiple; Adolescent; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma	1971
Syndrome of unilateral ectromelia, psoriasis and central nervous system anomalies. Birth defects original article series, 1971, Volume: 7, Issue:8 Topics: Abnormalities, Multiple; Autoradiography; Birth Weight; Cell Division; Central Nervous System; DNA;	1971
Transmission of a translocation t(Cp+; Dq-) through three generations; including an example of probable trisomy for the short arm of the C group chromosome No. 9. Annales de genetique, 1969, Volume: 12, Issue:1 Topics: Abnormalities, Multiple; Adult; Autoradiography; Blood Group Antigens; Chromosome Aberrations; Chrom	1969
A ring chromosome (46,XY,13r) occurring in a family with a D-D translocation 13-,14-, t(13q 14q). Annales de genetique, 1969, Volume: 12, Issue:1 Topics: Abnormalities, Multiple; Autoradiography; Blood Group Antigens; Child; Chromosome Aberrations; Chrom	1969
Clinical, cytogenetic and autoradiographic studies in 10 cases with rare chromosome disorders. I. Cases 1 and 2. Annales de genetique, 1969, Volume: 12, Issue:4 Topics: Abnormalities, Multiple; Adult; Autoradiography; Chromosome Aberrations; Chromosomes, Human, 1-3; Ch	1969
The 13q-deletion syndrome. American journal of human genetics, 1969, Volume: 21, Issue:5 Topics: Abnormalities, Multiple; Adult; Aneuploidy; Autoradiography; Chromosome Aberrations; Chromosome Diso	1969
Duplication deficiency syndrome in familial translocation (2q-;5p+). Humangenetik, 1971, Volume: 12, Issue:2 Topics: Abnormalities, Multiple; Anthropometry; Autoradiography; Blood Group Antigens; Child; Child, Prescho	1971
[Cytogenetic and pathological observations in the (4p-) SYNDROME (Wolf syndrome)]. Beitrage zur Pathologie, 1971, Volume: 143, Issue:1 Topics: Abnormalities, Multiple; Atrophy; Autoradiography; Cerebellum; Cerebral Cortex; Chromosome Aberratio	1971
[Abnormal C group chromosome in several members of the same family]. Humangenetik, 1968, Volume: 6, Issue:4 Topics: Abnormalities, Multiple; Adult; Autoradiography; Blood Group Antigens; Child; Child, Preschool; Chro	1968
A large deletion of chromosome no. 1 (46,XY,1?--). Journal of medical genetics, 1968, Volume: 5, Issue:4 Topics: Abnormalities, Multiple; Autoradiography; Blood Group Antigens; Blood Proteins; Chromosome Aberratio	1968
Presumptive C-15 translocation and familial large Y identified by autoradiography. Journal of medical genetics, 1969, Volume: 6, Issue:1 Topics: Abnormalities, Multiple; Adult; Autoradiography; Blood Group Antigens; Chromosome Aberrations; Chrom	1969

Article

Year

Defective receptors for platelet-derived growth factor AA in human fibroblasts with mutant insulin receptors.

Biochemical and biophysical research communications, 1993, Dec-15, Volume: 197, Issue:2

Topics: Abnormalities, Multiple; Becaplermin; DNA; Epidermal Growth Factor; Fibroblasts; Humans; Insulin; In

1993

[Photosensitization and DNA repair. Possible nosologic relationship between Xeroderma pigmentosum and Cockayne's syndrome].

Archives francaises de pediatrie, 1978, Volume: 35, Issue:10 Suppl

Topics: Abnormalities, Multiple; Child; Child, Preschool; Diagnosis, Differential; DNA Ligases; DNA Repair;

1978

Cockayne syndrome: a cellular sensitivity to ultraviolet light.

Pediatrics, 1977, Volume: 60, Issue:2

Topics: Abnormalities, Multiple; Child, Preschool; Chromosomes, Human, 6-12 and X; Dwarfism; Female; Fibrobl

1977

T-cell deficiency in diGeorge syndrome.

Birth defects original article series, 1975, Volume: 11, Issue:1

Topics: Abnormalities, Multiple; Autoradiography; Graft Rejection; Hypersensitivity, Delayed; Immune Adheren

1975

A strongly fluorescing abnormal chromosome in a malformed child.

Humangenetik, 1971, Volume: 12, Issue:1

Topics: Abnormalities, Multiple; Child; Chromosome Aberrations; Female; Fluorescence; Humans; Quinacrine; Se

1971

Unbalanced X-autosomal translocation with inactivation of the normal X chromosome.

Cytogenetics and cell genetics, 1973, Volume: 12, Issue:5

Topics: Abnormalities, Multiple; ABO Blood-Group System; Adult; Autoradiography; Chromosome Aberrations; Chr

1973

Comparison of cell cycle time in normal and trisomic cells.

Humangenetik, 1974, Volume: 23, Issue:3

Topics: Abnormalities, Multiple; Autoradiography; Biopsy; Cell Division; Cells, Cultured; Chromosomes, Human

1974

Familial translocation between chromosomes of groups C and D (46, T(Cq-;Dq+).

Soviet genetics, 1974, Jun-01, Volume: 8, Issue:5

Topics: Abnormalities, Multiple; Adult; Autoradiography; Child, Preschool; Chromosome Aberrations; Chromosom

1974

Familial tertiary trisomy with t (14q-; 1 plus?).

Birth defects original article series, 1974, Volume: 10, Issue:8

Topics: Abnormalities, Multiple; Autoradiography; Chromosomes, Human, 1-3; Chromosomes, Human, 13-15; Clubfo

1974

Evidence for the clonal origin of chronic myeloid leukemia from a sex chromosome mosaic: clinical, cytogenetic, and marrow culture studies.

Blood, 1974, Volume: 43, Issue:1

Topics: Abnormalities, Multiple; Bone Marrow Cells; Bone Marrow Examination; Busulfan; Cells, Cultured; Chil

1974

An attempt to establish trisomy 8 syndrome.

Humangenetik, 1973, Sep-20, Volume: 19, Issue:3

Topics: Abnormalities, Multiple; Autoradiography; Chromosomes, Human, 6-12 and X; Female; Humans; Infant; Ka

1973

De novo translocation t(Yq-; 15p+) in a malformed boy.

Humangenetik, 1973, Sep-20, Volume: 19, Issue:3

Topics: Abnormalities, Multiple; Autoradiography; Child; Child, Preschool; Chromosome Aberrations; Chromosom

1973

Comparative clinical studies and X chromosome behaviour in a case of XXXX-XXXXX mosaicism.

Journal of medical genetics, 1972, Volume: 9, Issue:2

Topics: Abnormalities, Multiple; Autoradiography; Dermatoglyphics; Female; Humans; Infant; Intellectual Disa

1972

A human ring C chromosome associated with multiple congenital abnormalities.

Journal of medical genetics, 1972, Volume: 9, Issue:2

Topics: Abnormalities, Multiple; Autoradiography; Blood Protein Electrophoresis; Bone Marrow Cells; Chromoso

1972

Multiple congenital defects associated with an abnormal unclassifiable karyotype.

Journal of medical genetics, 1972, Volume: 9, Issue:2

Topics: Abnormalities, Multiple; Autoradiography; Chromosomes; Dermatoglyphics; Fibroblasts; Humans; Karyoty

1972

[Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father].

Humangenetik, 1972, Volume: 15, Issue:2

Topics: Abnormalities, Multiple; Autoradiography; Chromosome Aberrations; Chromosome Disorders; Chromosomes,

1972

Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-).

Journal of medical genetics, 1972, Volume: 9, Issue:3

Topics: Abnormalities, Multiple; Adult; Aneuploidy; Autoradiography; Blood Group Antigens; Child; Chromosome

1972

A newborn with the cat-eye syndrome.

Humangenetik, 1972, Volume: 15, Issue:3

Topics: Abnormalities, Multiple; Adolescent; Adult; Anal Canal; Autoradiography; Cells, Cultured; Child; Chi

1972

Double monosomy mosaicism (45,X-45, XX,21-) in a retarded child with multiple congenital malformations.

Cytogenetics, 1971, Volume: 10, Issue:6

Topics: Abnormalities, Multiple; Aneuploidy; Autoradiography; Blood Protein Electrophoresis; Bone Marrow Cel

1971

A family showing transmission of a translocation t(3porq-;Cq+).

Journal of medical genetics, 1971, Volume: 8, Issue:4

Topics: Abnormalities, Multiple; Adolescent; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma

1971

Syndrome of unilateral ectromelia, psoriasis and central nervous system anomalies.

Birth defects original article series, 1971, Volume: 7, Issue:8

Topics: Abnormalities, Multiple; Autoradiography; Birth Weight; Cell Division; Central Nervous System; DNA;

1971

Transmission of a translocation t(Cp+; Dq-) through three generations; including an example of probable trisomy for the short arm of the C group chromosome No. 9.

Annales de genetique, 1969, Volume: 12, Issue:1

Topics: Abnormalities, Multiple; Adult; Autoradiography; Blood Group Antigens; Chromosome Aberrations; Chrom

1969

A ring chromosome (46,XY,13r) occurring in a family with a D-D translocation 13-,14-, t(13q 14q).

Annales de genetique, 1969, Volume: 12, Issue:1

Topics: Abnormalities, Multiple; Autoradiography; Blood Group Antigens; Child; Chromosome Aberrations; Chrom

1969

Clinical, cytogenetic and autoradiographic studies in 10 cases with rare chromosome disorders. I. Cases 1 and 2.

Annales de genetique, 1969, Volume: 12, Issue:4

Topics: Abnormalities, Multiple; Adult; Autoradiography; Chromosome Aberrations; Chromosomes, Human, 1-3; Ch

1969

The 13q-deletion syndrome.

American journal of human genetics, 1969, Volume: 21, Issue:5

Topics: Abnormalities, Multiple; Adult; Aneuploidy; Autoradiography; Chromosome Aberrations; Chromosome Diso

1969

Duplication deficiency syndrome in familial translocation (2q-;5p+).

Humangenetik, 1971, Volume: 12, Issue:2

Topics: Abnormalities, Multiple; Anthropometry; Autoradiography; Blood Group Antigens; Child; Child, Prescho

1971

[Cytogenetic and pathological observations in the (4p-) SYNDROME (Wolf syndrome)].

Beitrage zur Pathologie, 1971, Volume: 143, Issue:1

Topics: Abnormalities, Multiple; Atrophy; Autoradiography; Cerebellum; Cerebral Cortex; Chromosome Aberratio

1971

[Abnormal C group chromosome in several members of the same family].

Humangenetik, 1968, Volume: 6, Issue:4

Topics: Abnormalities, Multiple; Adult; Autoradiography; Blood Group Antigens; Child; Child, Preschool; Chro

1968

A large deletion of chromosome no. 1 (46,XY,1?--).

Journal of medical genetics, 1968, Volume: 5, Issue:4

Topics: Abnormalities, Multiple; Autoradiography; Blood Group Antigens; Blood Proteins; Chromosome Aberratio

1968

Presumptive C-15 translocation and familial large Y identified by autoradiography.

Journal of medical genetics, 1969, Volume: 6, Issue:1

Topics: Abnormalities, Multiple; Adult; Autoradiography; Blood Group Antigens; Chromosome Aberrations; Chrom

1969