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1

Congenital adrenal hypoplasia and isolated gonadotropin deficiency

Kletter, Gad B., Gorski, Jerome L., Kelch, Robert P.

Journal:

Trends in Endocrinology & Metabolism

Year:

1991

Language:

english

File:

PDF, 871 KB

english, 1991

2

Human-specific amplification of radiation hybrid DNA fractionated by pulsed-field gel electrophoresis

Burright, Eric N., Reyner, Eric L., Gorski, Jerome L.

Journal:

Nucleic Acids Research

Year:

1991

Language:

english

File:

PDF, 1.74 MB

english, 1991

3

Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation

Flejter, Wendy L., Bennett-Baker, Pamela E., Ghaziuddin, Mohammad, McDonald, Marie, Sheldon, Susan, Gorski, Jerome L.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 651 KB

1996

4

XY sex reversal and gonadal dysgenesis due to 9p24 monosomy

McDonald, Marie T., Flejter, Wendy, Sheldon, Susan, Putzi, Mathew J., Gorski, Jerome L.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 379 KB

english, 1997

5

CHARGE association With choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11)

Donna M. Martin, Susan Sheldon, Jerome L. Gorski

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 182 KB

english, 2001

6

In memoriam: James V. Neel, 1915–2000

Jerome L. Gorski

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 95 KB

english, 2000

7

Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome)

Jerome L. Gorski, Lourdes Estrada, Changzhi Hu, Zhou Liu

Journal:

Developmental Dynamics

Year:

2000

Language:

english

File:

PDF, 2.17 MB

english, 2000

8

Reproductive risks for carriers of complex chromosome rearrangements: Analysis of 25 families

Jerome L. Gorski, Mildred L. Kistenmacher, Hope H. Punnett, Elaine H. Zackai, Beverly S. Emanuel, John M. Optiz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 841 KB

english, 1988

9

Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37)

Dr. Jerome L. Gorski, Beth A. Cox, Mi Kyine, Wendy Uhlmann, Thomas W. Glover

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 344 KB

english, 1989

10

A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome

Jerome L. Gorski, Wendy R. Uhlmann, Thomas W. Glover

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 328 KB

english, 1990

11

Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: Support for X-linked inheritance and paternal X chromosome mosaicism

Jerome L. Gorski

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 696 KB

english, 1991

12

Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: Possible familial RHYNS syndrome

Peter Hedera, Jerome L. Gorski

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 125 KB

english, 2001

13

Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion

Donna M. Martin, Margaret H. Mindell, Christine A. Kwierant, Thomas W. Glover, Jerome L. Gorski

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 69 KB

english, 2003

14

Oculo-facio-cardio-dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance

Peter Hedera, Jerome L. Gorski

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 158 KB

english, 2003

15

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

Jill A. Rosenfeld, John A. Crolla, Susan Tomkins, Patricia Bader, Bernice Morrow, Jerome Gorski, Robin Troxell, Cynthia Forster-Gibson, Deirdre Cilliers, R. Gordon Hislop, Allen Lamb, Beth Torchia, Bl

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 434 KB

english, 2010

16

An intragenicTaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome

N. German Pasteris, Jerome L. Gorski

Journal:

Year:

1995

Language:

english

File:

PDF, 97 KB

english, 1995

17

The secondary structure of human 28S rRNA: The structure and evolution of a mosaic rRNA gene

Jerome L. Gorski, Iris L. Gonzalez, Roy D. Schmickel

Journal:

Journal of Molecular Evolution

Year:

1987

Language:

english

File:

PDF, 1.26 MB

english, 1987

18

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

Judith Livingston, Bradford L. Therrell, Marie Y. Mann, Carolyn Stady Anderson, Katherine Christensen, Jerome L. Gorski, Dorothy K. Grange, Dawn Peck, Margy Roberston, Sharmini Rogers, Maura Taylor, C

Journal:

Journal of Community Genetics

Year:

2011

Language:

english

File:

PDF, 201 KB

english, 2011

19

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy

Ray, Peter N., Belfall, Bonnie, Duff, Catherine, Logan, Cairine, Kean, Vanora, Thompson, Margaret W., Sylvester, James E., Gorski, Jerome L., Schmickel, Roy D., Worton, Ronald G.

Journal:

Year:

1985

File:

PDF, 501 KB

1985

20

Familial mondini dysplasia

Andrew J. Griffith, Steven A. Telian, Catherine Downs, Jerome L. Gorski, Stephen S. Gebarski, Anil K. Lalwani, Susan Sheldon

Journal:

The Laryngoscope

Year:

1998

Language:

english

File:

PDF, 707 KB

english, 1998

21

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

Francois P. Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J. Buckingham, A. Micheil Innes, Ethylin Wang Jabs, Jeffrey W. Innis, Jane L. Schuette, Jerome L. Gorski, Peter H. Byers, G

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 639 KB

english, 2012

22

Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases

Michael F. Olson, N.German Pasteris, Jerome L. Gorski, Alan Hall

Journal:

Current Biology

Year:

1996

Language:

english

File:

PDF, 332 KB

english, 1996

23

Cosmids Map Two Incontinentia Pigmenti Type 1 (IP1) Translocation Breakpoints to a 180-kb Region within a 1.2-Mb YAC Contig

Jerome L. Gorski, Michael D. Bialecki, Marie T. McDonald, Hillary F. Massa, Barbara J. Trask, Eric N. Burright

Journal:

Year:

1996

Language:

english

File:

PDF, 269 KB

english, 1996

24

Genomic Organization of the Faciogenital Dysplasia (FGD1; Aarskog Syndrome) Gene

N.German Pasteris, Joshua Buckler, Amy B. Cadle, Jerome L. Gorski

Journal:

Year:

1997

Language:

english

File:

PDF, 277 KB

english, 1997

25

Isolation, Characterization, and Mapping of the Mouse and Human Fgd2 Genes, Faciogenital Dysplasia (FGD1; Aarskog Syndrome) Gene Homologues

N.German Pasteris, Jerome L. Gorski

Journal:

Year:

1999

Language:

english

File:

PDF, 244 KB

english, 1999

26

The Cdc42 Guanine Nucleotide Exchange Factor FGD1 Regulates Osteogenesis in Human Mesenchymal Stem Cells

Lin Gao, Jerome L. Gorski, Christopher S. Chen

Journal:

The American Journal of Pathology

Year:

2011

Language:

english

File:

PDF, 1.11 MB

english, 2011

27

Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue

N.German Pasteris, Koh-ichi Nagata, Alan Hall, Jerome L. Gorski

Journal:

Year:

2000

Language:

english

File:

PDF, 554 KB

english, 2000

28

A Gene Involved in XY Sex Reversal Is Located on Chromosome 9, Distal to Marker D9S1779

Wendy L. Flejter, Jennifer Fergestad, Jerome Gorski, Tena Varvill, Settara Chandrasekharappa

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 317 KB

english, 1998

29

Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome

Jianming Fang, Susan L. Dagenais, Robert P. Erickson, Martin F. Arlt, Michael W. Glynn, Jerome L. Gorski, Laurie H. Seaver, Thomas W. Glover

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 583 KB

english, 2000

30

Sequence and structure correlation of human ribosomal transcribed spacers

Iris Laudien Gonzalez, Carolyn Chambers, Jerome L. Gorski, Dwight Stambolian, Roy D. Schmickel, James E. Sylvester

Journal:

Journal of Molecular Biology

Year:

1990

Language:

english

File:

PDF, 1019 KB

english, 1990

31

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor

N. German Pasteris, Amy Cadle, Lindsay J. Logie, Mary E.M. Porteous, Charles E. Schwartz, Roger E. Stevenson, Thomas W. Glover, R. Sid Wilroy, Jerome L. Gorski

Journal:

Year:

1994

Language:

english

File:

PDF, 1.63 MB

english, 1994

32

Molecular and clinical delineation of the 17q22 microdeletion phenotype

Laurell, Tobias, Lundin, Johanna, Anderlid, Britt-Marie, Gorski, Jerome L, Grigelioniene, Giedre, Knight, Samantha J L, Krepischi, Ana C V, Nordenskjöld, Agneta, Price, Susan M, Rosenberg, Carla, Turn

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 709 KB

english, 2013

33

Barium/zinc stabilizers for automotive applications

Cotter, Philip D., Willard, Huntington F., Gorski, Jerome L., Bishop, David F.

Journal:

Additives for Polymers

Year:

1994

Language:

english

File:

PDF, 99 KB

english, 1994

34

Assignment of human erythroid δ-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X;Autosome translocations

Cotter, Philip D., Willard, Huntington F., Gorski, Jerome L., Bishop, David F.

Journal:

Year:

1992

Language:

english

File:

PDF, 560 KB

english, 1992

35

Isolation of DNA markers from a region between incontinentia pigmenti 1 (IP1) X-chromosomal translocation breakpoints by a comparative PCR analysis of a radiation hybrid subclone mapping panel

Gorski, Jerome L., Burright, Eric N., Reyner, Eric L., Goodfellow, Peter N., Burgess, Daniel L.

Journal:

Year:

1992

Language:

english

File:

PDF, 2.08 MB

english, 1992

36

A radiation hybrid map of the proximal short arm of the human X chromosome spanning incontinentia pigmenti 1 (IP1) translocation breakpoints

Gorski, Jerome L., Boehnke, Michael, Reyner, Eric L., Burright, Eric N.

Journal:

Year:

1992

Language:

english

File:

PDF, 1.30 MB

english, 1992

37

Incontinentia pigmenti in a male infant with Klinefelter syndrome

Esterly, Nancy Burton, Prendiville, J.S., Gorski, Jerome L., Stein, Constance K.

Journal:

Journal of the American Academy of Dermatology

Year:

1989

Language:

english

File:

PDF, 1.34 MB

english, 1989

38

Variation among Human 28S Ribosomal RNA Genes

Iris Laudien Gonzalez, Jerome L. Gorski, Thomas J. Campen, D. J. Dorney, Jeanne M. Erickson, James E. Sylvester and Roy D. Schmickel

Journal:

Proceedings of the National Academy of Sciences

Year:

1985

Language:

english

File:

PDF, 953 KB

english, 1985

39

Effect of Fgd1 on Cortactin in Arp2/3 Complex-Mediated Actin Assembly †

Kim, Kyoungtae, Hou, Peng, Gorski, Jerome L., Cooper, John A.

Journal:

Year:

2004

Language:

english

File:

PDF, 105 KB

english, 2004

40

Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22

Miller, Andrew P., Gustashaw, Karen, Wolff, Daynna J., Rider, Sue H., Monaco, Anthony P., Eble, Brian, Schlessinger, David, Gorski, Jerome L., van Ommen, Gert-Jan, Weissenbach, Jean, Willard, Huntingt

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.11 MB

english, 1995

41

YAC subclone contig assembly by serial interspersed repetitive sequence (IRS)-PCR product hybridizations

Pasteris, N.German, Bialecki, Michael D., Gorski, Jerome L.

Journal:

Nucleic Acids Research

Year:

1993

Language:

english

File:

PDF, 636 KB

english, 1993

42

Insidious Onset of Familial Craniosynostosis

Cohen, Steven R., Dauser, Robert C., Gorski, Jerome L.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

1993

File:

PDF, 536 KB

1993

43

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

Rosenfeld, Jill A., Fox, Joyce E., Descartes, Maria, Brewer, Fallon, Stroud, Tracy, Gorski, Jerome L., Upton, Sheila J., Moeschler, John B., Monteleone, Berrin, Neill, Nicholas J., Lamb, Allen N., Bal

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 908 KB

english, 2015

44

CDC42 and FGD1 Cause Distinct Signaling and Transforming Activities

Whitehead, Ian P., Abe, Karon, Gorski, Jerome L., Der, Channing J.

Journal:

Molecular and Cellular Biology

Year:

1998

Language:

english

File:

PDF, 819 KB

english, 1998

45

Unilateral Frontosphenoidal Craniosynostosis With Achondroplasia: A Case Report

Hubbard, Bradley A., Gorski, Jerome L., Muzaffar, Arshad R.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2011

Language:

english

File:

PDF, 405 KB

english, 2011

46

Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development

Cao, Yang, Mitchell, Elyse B., Gorski, Jerome L., Hollinger, Cassandra, Hoppman, Nicole L.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 4.22 MB

english, 2016

47

Insidious Onset of Familial Craniosynostosis

Cohen, Steven R., Dauser, Robert C., Gorski, Jerome L.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

1993

File:

PDF, 532 KB

1993

48

Insidious Onset of Familial Craniosynostosis

Cohen, Steven R., Dauser, Robert C., Gorski, Jerome L.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

1993

File:

PDF, 532 KB

1993

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