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1

Minor chromosome variations and selected heteromorphisms in 200 unclassifiable mentally retarded patients and 200 normal controls

Avirachan T. Tharapel, Robert L. Summitt

Journal:

Année:

1978

Langue:

english

Fichier:

PDF, 509 KB

english, 1978

2

First trimester prenatal diagnosis of trisomy 21 in fetal cells from maternal blood

Elias, Sherman, Price, James, Dockter, Michael, Wachtel, Stephen, Tharapel, Avirachan, Leigh Simpson, Joe, Klinger, KatherineW.

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 159 KB

english, 1992

3

Down syndrome with biparental inheritance of der(14q21q) and maternally derived trisomy 21: Confirmation by fluorescent in situ hybridization and microsatellite polymorphism analysis

Rajangam, Sayee, Michaelis, Ron C., Velagaleti, GopalRao V. N., Lincoln, Shavanthi, Hegde, Sridevi, Lewin, Sanjeev, Tarleton, Jack, Thomas, Irene M., Tharapel, Avirachan T.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 306 KB

english, 1997

4

DISCORDANT DIRECT AND CULTURE RESULTS FOLLOWING CHORIONIC VILLUS SAMPLING AND THE DIAGNOSIS OF A THIRD CELL LINE IN THE FETUS

OWEN P. PHILLIPS, GOPALRAO V. N. VELAGALETI, AVIRACHAN T. THARAPEL, LEE P. SHULMAN

Journal:

Prenatal Diagnosis

Année:

1997

Langue:

english

Fichier:

PDF, 162 KB

english, 1997

5

Letter: Rapid assessment of amniotic fluid by primed in situ labelling (PRINS) for suspected fetal trisomy 18

Lee P. Shulman, GopalRao V. N. Velagelati, Owen P. Phillips, Avirachan T. Tharapel

Journal:

Prenatal Diagnosis

Année:

1998

Langue:

english

Fichier:

PDF, 69 KB

english, 1998

6

Fetal ‘space-suit’ hydrops in the first trimester: differentiating risk for chromosome abnormalities by delineating characteristics of nuchal translucency

Lee P. Shulman, Owen P. Phillips, Donald S. Emerson, Richard E. Felker, Avirachan T. Tharapel

Journal:

Prenatal Diagnosis

Année:

2000

Langue:

english

Fichier:

PDF, 97 KB

english, 2000

7

Localization of SRY by primed in situ labeling in XX and XY sex reversal

Jayarama S. Kadandale, Stephen S. Wachtel, Yusuf Tunca, R. Sid Wilroy Jr., Paula R. Martens, Avirachan T. Tharapel

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 1.47 MB

english, 2000

8

Deletion of RBM and DAZ in azoospermia: Evaluation by PRINS

Jayarama S. Kadandale, Stephen S. Wachtel, Yusuf Tunca, Paula R. Martens, R. Sid Wilroy, Avirachan T. Tharapel

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 157 KB

english, 2002

9

Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: Diagnosis by primed in situ labeling (PRINS)

Avirachan T. Tharapel, Jayarama S. Kadandale, Paula R. Martens, Stephen S. Wachtel, R. Sid Wilroy Jr.

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 200 KB

english, 2002

10

FISH and PRINS: Competing or complementary technologies?

Stephen S. Wachtel, Avirachan T. Tharapel

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 49 KB

english, 2002

11

Adjacent-2 disjunction of a maternal t(9;22) leading to duplication 9pter→q22 and deficiency of 22pter→q11.2

Enikö K. Pivnick, R. Sid Wilroy, John B. Summitt, Barbara Tucker, Henry G. Herrod, Avirachan T. Tharapel

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 451 KB

english, 1990

12

Identification of the origin of centromeres in whole-arm translocations using fluorescent in situ hybridization with α-satellite DNA probes

Dr. Avirachan T. Tharapel, Mazin B. Qumsiyeh, Paula R. Martens, Sugandhi A. Tharapel, James D. Dalton, Jewell C. Ward, R. Sid Wilroy Jr.

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 466 KB

english, 1991

13

High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement

Dr. Mazin B. Qumsiyeh, R. Sid Wilroy, Joseph N. Peeden, Avirachan T. Tharapel

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 331 KB

english, 1991

14

Deletion of chromosome 15pter→q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome

Mazin B. Qumsiyeh, James D. Dalton, Patricia L. Gordon, R. Sid Wilroy, Avirachan T. Tharapel

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 276 KB

english, 1992

15

Identification of the origin of ring/marker chromosomes in patients with ullrich-turner syndrome using X and Y specific alpha satellite DNA probes

Sugandhi A. Tharapel, R. Sid Wilroy, Amber M. Keath, Marian L. Rivas, Avirachan T. Tharapel

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 385 KB

english, 1992

16

Reply to Zelante et al

Dr. Mazin B. Qumsiyeh, R. Sid Wilroy, Joseph N. Peeden, Avirachan T. Tharapel

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 70 KB

english, 1992

17

Position statement on interphase in situ hybridization prenatal diagnosis

Dr. Herbert A. Lubs, Louis J. Elsas II, Avirachan T. Tharapel, Philip D. Buchanan, Wayne H. Finley, Carmen B. Lozzio, Mary Z. Pelias

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 91 KB

english, 1993

18

Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization

Jian Zhao, Patricia L. Gordon, R. Sid Wilroy Jr., Paula R. Martens, Jack Tarleton, Lee P. Shulman, Joe Leigh Simpson, Sherman Elias, Avirachan T. Tharapel

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 524 KB

english, 1995

19

Pericentric inversion of chromosome 19: prenatal diagnosis and genetic counselling

Avirachan T. Tharapel, Jewell C. Ward, Lee Wiggins, R. Sid Wilroy Jr

Journal:

Prenatal Diagnosis

Année:

1986

Langue:

english

Fichier:

PDF, 233 KB

english, 1986

20

Resorbed co-twin as an explanation for discrepant chorionic villus results: Non-mosaic 47,XX, +16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood

Dr. Avirachan T. Tharapel, Sherman Elias, Lee P. Shulman, Linda Seely, Donald S. Emerson, Joe Leigh Simpson

Journal:

Prenatal Diagnosis

Année:

1989

Langue:

english

Fichier:

PDF, 380 KB

english, 1989

21

Dilatation and evacuation is a preferable method of mid-trimester genetic termination of pregency

Lee P. Shulman, Frank W. Ling, Carole M. Meyers, Avirachan T. Tharapel, Douglas R. Shanklin, Donald Emerson, Joe Leigh Simpson, Sherman Elias

Journal:

Prenatal Diagnosis

Année:

1989

Langue:

english

Fichier:

PDF, 179 KB

english, 1989

22

Use of fluorescence in situ hybridization to detect trisomy 18 in the direct preparation of a chorionic villus biopsy

Vicki Murtif Park, Avirachan T. Tharapel, Sherman Elias

Journal:

Prenatal Diagnosis

Année:

1992

Langue:

english

Fichier:

PDF, 256 KB

english, 1992

23

Very rapid prenatal karyotypic analysis using uncultured fetal nucleated red blood cells

Lee P. Shulman, Brian M. Mercer, Paula Martens, Avirachan T. Tharapel

Journal:

Prenatal Diagnosis

Année:

1993

Langue:

english

Fichier:

PDF, 267 KB

english, 1993

24

Sister chromatid exchange (SCE) frequencies differ between directly prepared cytotrophoblasts and cultured mesenchymal core cells

Lee P. Shulman, Lirong Li, Avirachan T. Tharapel, Joe Leigh Simpson, Sherman Elias

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 233 KB

english, 1991

25

Failure to document fetal cells in maternal circulation using the Selypes-Lorencz “air-culture” cytogenetic technique

Mounira Youssef, Lee P. Shulman, Avirachan T. Tharapel, Joe Leigh Simpson, Sherman Elias

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 158 KB

english, 1990

26

A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls

Avirachan T. Tharapel, Robert L. Summitt

Journal:

Année:

1977

Langue:

english

Fichier:

PDF, 545 KB

english, 1977

27

Tissue limited mosaicism for unbalanced autosomal translocation in a child with congenital anomalies and mental retardation

Robert L. Summitt, Avirachan T. Tharapel, Robert S. Wilroy

Journal:

European Journal of Pediatrics

Année:

1977

Langue:

english

Fichier:

PDF, 790 KB

english, 1977

28

A simple reproducible method for prometaphase chromosome analysis

Joseph Rybak, Avirachan Tharapel, Sheldon Robinett, Mary Garcia, Carl Mankinen, Mahlon Freeman

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 645 KB

english, 1982

29

A novel mutation 5’ to the HMG box of theSRYgene in a case of Swyer syndrome

G. Mustafa Saifi, Preetha Tilak, Reiner Veitia, I. Manorama Thomas, Avirachan Tharapel, Ken Mcelreavey, Mark Fellous, H. Sharat Chandra

Journal:

Journal of Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 105 KB

english, 1999

30

A jumping Robertsonian translocation: a molecular and cytogenetic study

S. J. Gross, Avirachan T. Tharapel, Owen P. Phillips, L. P. Shulman, Enikö K. Pivnick, V. M. Park

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 377 KB

english, 1996

31

Recurrent pregnancy losses and parental chromosome abnormalities: a review

AVIRACHAN T. THARAPEL, SUGANDHI A. THARAPEL, ROBIN M. BANNERMAN

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Année:

1985

Langue:

english

Fichier:

PDF, 1.25 MB

english, 1985

32

Chromosomal basis of recurrent fetal losses

Avirachan T. Tharapel, R. Sid Wilroy

Journal:

Indian Journal of Pediatrics

Année:

1986

Langue:

english

Fichier:

PDF, 655 KB

english, 1986

33

Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling

Owen P. Phillips, Avirachan T. Tharapel, Jody L. Lerner, Vicki M. Park, Stephen S. Wachtel, Lee P. Shulman

Journal:

American Journal of Obstetrics and Gynecology

Année:

1996

Langue:

english

Fichier:

PDF, 637 KB

english, 1996

34

Primed in situ labeling for rapid prenatal diagnosis

GopalRao V.N. Velagelati, Lee P. Shulman, Owen P. Phillips, Sugandhi A. Tharapel, Avirachan T. Tharapel

Journal:

American Journal of Obstetrics and Gynecology

Année:

1998

Langue:

english

Fichier:

PDF, 146 KB

english, 1998

35

Hypomelanosis of Ito and a ‘mirror image’ whole chromosome duplication resulting in trisomy 14 mosaicism

Yusuf Tunca, R.Sid Wilroy, Jayarama S Kadandale, Paula R Martens, Wendy M Gunther, Avirachan T Tharapel

Journal:

Annales de Génétique

Année:

2000

Langue:

english

Fichier:

PDF, 172 KB

english, 2000

36

Validation of Primed In Situ Labeling (PRINS) for Interphase Analysis: Comparative Studies with Conventional Fluorescence In Situ Hybridization and Chromosome Analyses

GopalRao V.N. Velagaleti, Sugandhi A. Tharapel, Avirachan T. Tharapel

Journal:

Cancer Genetics and Cytogenetics

Année:

1999

Langue:

english

Fichier:

PDF, 308 KB

english, 1999

37

Chromosomal Localization of Single Copy Genes SRY and SOX3 by Primed In Situ Labeling (PRINS)

Kadandale, Jayarama S., Tunca, Yusuf, Tharapel, Avirachan T.

Journal:

Microbial & Comparative Genomics

Année:

2000

Langue:

english

Fichier:

PDF, 162 KB

english, 2000

38

Philadelphia chromosome-positive chronic myelocytic leukemia with a supplementary t(4;9)(q21;p22) and long survival

Sugandhi A. Tharapel, Gerald I. Plitman, Avirachan T. Tharapel, R.Sid Wilroy Jr.

Journal:

Cancer Genetics and Cytogenetics

Année:

1986

Langue:

english

Fichier:

PDF, 372 KB

english, 1986

39

46,XY monozygotic twins with discordant sex phenotype

Stephen G Somkuti, Stephen S Wachtel, Jay S Schinfeld, Laird Jackson, Avirachan T Tharapel, Angelo M DiGeorge

Journal:

Fertility and Sterility

Année:

2000

Langue:

english

Fichier:

PDF, 81 KB

english, 2000

40

Apparently balanced de novo translocations in patients with abnormal phenotypes: Report of 6 cases

Avirachan T. Tharapel, Robert L. Summitt, Robert S. Wkroy Jr., Paula Martens

Journal:

Clinical Genetics

Année:

1977

Langue:

english

Fichier:

PDF, 1012 KB

english, 1977

41

Editorial Board

Price, James O., Elias, Sherman, Wachtel, Stephen S., Klinger, Katherine, Dockter, Michael, Tharapel, Avirachan, Shulman, Lee P., Phillips, Owen P., Meyers, Carole M., Shook, Donna, Simpson, Joe Leigh

Journal:

Journal of Maxillofacial Surgery

Année:

1977

Fichier:

PDF, 19 KB

1977

42

Prenatal diagnosis with fetal cells isolated from maternal blood by multiparameter flow cytometry

Price, James O., Elias, Sherman, Wachtel, Stephen S., Klinger, Katherine, Dockter, Michael, Tharapel, Avirachan, Shulman, Lee P., Phillips, Owen P., Meyers, Carole M., Shook, Donna, Simpson, Joe Leigh

Journal:

American Journal of Obstetrics and Gynecology

Année:

1991

Langue:

english

Fichier:

PDF, 1.45 MB

english, 1991

43

Direct analysis of uncultured cytotrophoblastic cells from second- and third-trimester placentas: An accurate and rapid method for detection of fetal chromosome abnormalities

Shulman, Lee P, Tharapel, Avirachan T, Meyers, Carole M, Phillips, Owen P, Simpson, Joe Leigh, Elias, Sherman

Journal:

American Journal of Obstetrics and Gynecology

Année:

1990

Langue:

english

Fichier:

PDF, 465 KB

english, 1990

44

Sister chromatid exchange frequency in directly prepared cytotrophoblasts: Demonstration of in vivo deoxyribonucleic acid damage in pregnant women who smoke cigarettes

Shulman, Lee P., Elias, Sherman, Tharapel, Avirachan T., Li, Lirong, Phillips, Owen P., Simpson, Joe Leigh

Journal:

American Journal of Obstetrics and Gynecology

Année:

1991

Langue:

english

Fichier:

PDF, 391 KB

english, 1991

45

Rapid chromosome analysis with the use of spontaneously dividing cells derived from umbilical cord blood (fetal and neonatal)

Tipton, Robert E., Tharapel, Avirachan T., Chang, Hua-Hua T., Simpson, Joe Leigh, Elias, Sherman

Journal:

American Journal of Obstetrics and Gynecology

Année:

1989

Langue:

english

Fichier:

PDF, 329 KB

english, 1989

46

Transabdominal chorionic villus sampling for first-trimester prenatal diagnosis

Elias, Sherman, Simpson, Joe Leigh, Shulman, Lee P., Emerson, Donald, Tharapel, Avirachan, Seely, Linda

Journal:

American Journal of Obstetrics and Gynecology

Année:

1989

Langue:

english

Fichier:

PDF, 1.36 MB

english, 1989

47

Mode of Ascertainment is Critical in Assessing Safety of Percutaneous Umbilical Blood Sampling

Shulman, Lee, Moretti, Michael, Tharapel, Avirachan, Shaver, David, Mercer, Brian, Sibai, Baha, Meyers, Carole, Phillips, Owen, Dacus, John, Barton, John, Simpson, Joe, Elias, Sherman

Journal:

American Journal of Perinatology

Année:

1993

Langue:

english

Fichier:

PDF, 813 KB

english, 1993

48

Diagnosis of Trisomy 18 Using Spontaneously Dividing Cells from Fetal Umbilical Cord Blood: A Novel Approach for Rapid Late Second and Third Trimester Prenatal Diagnosis

Tharapel, Avirachan, Moretti, Michael, Meyers, Carole, Shulman, Lee, Tipton, Robert, Summitt, John, Elias, Sherman, Wilroy, R., Epps, Michael, Simpson, Joe

Journal:

American Journal of Perinatology

Année:

1990

Fichier:

PDF, 641 KB

1990

49

Diagnosis of Trisomy 18 Using Spontaneously Dividing Cells from Fetal Umbilical Cord Blood: A Novel Approach for Rapid Late Second and Third Trimester Prenatal Diagnosis

Tharapel, Avirachan, Moretti, Michael, Meyers, Carole, Shulman, Lee, Tipton, Robert, Summitt, John, Elias, Sherman, Wilroy, R., Epps, Michael, Simpson, Joe

Journal:

American Journal of Perinatology

Année:

1990

Langue:

english

Fichier:

PDF, 641 KB

english, 1990

50

Segregation analysis and genetic counseling when both parents carry balanced chromosomal translocations

Phillips, Owen P., Tharapel, Avirachan T., Shulman, Lee P., Simpson, Joe Leigh, Elias, Sherman

Journal:

Fertility and Sterility

Année:

1991

Langue:

english

Fichier:

PDF, 900 KB

english, 1991