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1

A genetic variant near olfactory receptor genes influences cilantro preference

Eriksson, Nicholas, Wu, Shirley, Do, Chuong B, Kiefer, Amy K, Tung, Joyce Y, Mountain, Joanna L, Hinds, David A, Francke, Uta

Journal:

Year:

2012

Language:

english

File:

PDF, 556 KB

english, 2012

2

Mosaicism in amniotic fluid cell cultures: Classification and significance

Holger Hoehn, Maria L. Rodriguez, Thomas H. Norwood, Clare L. Maxwell, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1978

Language:

english

File:

PDF, 885 KB

english, 1978

3

Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests

Suzanne Marcus, Ann-Marie Steen, Björn Andersson, Bo Lambert, Ulf Kristoffersson, Uta Francke

Journal:

Year:

1992

Language:

english

File:

PDF, 797 KB

english, 1992

4

The band patterns of twelve D 98/AH-2 marker chromosomes and their use for identification of intraspecific cell hybrids

Uta Francke, Deborah S. Hammond, Jerry A. Schneider

Journal:

Year:

1973

Language:

english

File:

PDF, 1.60 MB

english, 1973

5

The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q

H. Z. Ring, H. Chang, Angèle Guilbot, Alexis Brice, Eric LeGuern, Uta Francke

Journal:

Year:

1999

Language:

english

File:

PDF, 228 KB

english, 1999

6

The relationship between motor control and phonology in dyslexic children

Franck Ramus, Elizabeth Pidgeon, Uta Frith

Journal:

Journal of Child Psychology and Psychiatry

Year:

2003

Language:

english

File:

PDF, 210 KB

english, 2003

7

The role of sensorimotor impairments in dyslexia: a multiple case study of dyslexic children

Sarah White, Elizabeth Milne, Stuart Rosen, Peter Hansen, John Swettenham, Uta Frith, Franck Ramus

Journal:

Developmental Science

Year:

2006

Language:

english

File:

PDF, 283 KB

english, 2006

8

Spectrum of MECP2 mutations in Rett syndrome

Stephen Sung Jae Lee, Mimi Wan, Uta Francke

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 122 KB

english, 2001

9

Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates

Uta Francke, Bohdan Bakay, William L. Nyhan

Journal:

The Journal of Pediatrics

Year:

1973

Language:

english

File:

PDF, 434 KB

english, 1973

10

Genetic variants associated with breast size also influence breast cancer risk

Nicholas Eriksson, Geoffrey M Benton, Chuong B Do, Amy K Kiefer, Joanna L Mountain, David A Hinds, Uta Francke, Joyce Y Tung

Journal:

BMC Medical Genetics

Year:

2012

Language:

english

File:

PDF, 614 KB

english, 2012

11

Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing

Francke, Uta, Dijamco, Cheri, Kiefer, Amy K., Eriksson, Nicholas, Moiseff, Bianca, Tung, Joyce Y., Mountain, Joanna L.

Journal:

Year:

2013

Language:

english

File:

PDF, 334 KB

english, 2013

12

Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease

Do, Chuong B., Tung, Joyce Y., Dorfman, Elizabeth, Kiefer, Amy K., Drabant, Emily M., Francke, Uta, Mountain, Joanna L., Goldman, Samuel M., Tanner, Caroline M., Langston, J. William, Wojcicki, Anne,

Journal:

Year:

2011

Language:

english

File:

PDF, 521 KB

english, 2011

13

Mechanisms of Disease: neurogenetics of MeCP2 deficiency

Journal:

Nature Clinical Practice Neurology

Year:

2006

Language:

english

File:

PDF, 230 KB

english, 2006

14

A Melanocyte-Specific Gene, Pmel 17, Maps Near the Silver Coat Color Locus on Mouse Chromosome 10 and is in a Syntenic Region on Human Chromosome 12

Byoung S. Kwon, Chaya Chintamaneni, Christine A. Kozak, Neal G. Copeland, Debra J. Gilbert, Nancy Jenkins, David Barton, Uta Francke, Yvonne Kobayashi and Kack K. Kim

Journal:

Proceedings of the National Academy of Sciences

Year:

1991

Language:

english

File:

PDF, 972 KB

english, 1991

15

Efficient Replication of over 180 Genetic Associations with Self-Reported Medical Data

Tung, Joyce Y., Do, Chuong B., Hinds, David A., Kiefer, Amy K., Macpherson, J. Michael, Chowdry, Arnab B., Francke, Uta, Naughton, Brian T., Mountain, Joanna L., Wojcicki, Anne, Eriksson, Nicholas, Re

Journal:

Year:

2011

Language:

english

File:

PDF, 1.87 MB

english, 2011

16

Novel Associations for Hypothyroidism Include Known Autoimmune Risk Loci

Eriksson, Nicholas, Tung, Joyce Y., Kiefer, Amy K., Hinds, David A., Francke, Uta, Mountain, Joanna L., Do, Chuong B., Sawalha, Amr H.

Journal:

Year:

2012

Language:

english

File:

PDF, 750 KB

english, 2012

17

Directâtoâconsumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience

Elson, Sarah L., Furlotte, Nicholas A., Hromatka, Bethann S., Wilson, Catherine H., Mountain, Joanna L., Rowbotham, Helen M., Varga, Elizabeth A., Francke, Uta

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 599 KB

2020

18

Evaluation of two X chromosomal candidate genes for Rett syndrome: Glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1)

Wan, Minghong, Francke, Uta

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 58 KB

english, 1998

19

Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome

Heidary, Gena, Hampton, Lori L., Schanen, N. Carolyn, Rivkin, Michael J., Darras, Basil T., Battey, James, Francke, Uta

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 45 KB

english, 1998

20

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome

Ferguson, Polly J., Blanton, Susan H., Saulsbury, Frank T., McDuffie, Marcia J., Lemahieu, Vanessa, Gastier, Julie M., Francke, Uta, Borowitz, Stephen M., Sutphen, James L., Kelly, Thaddeus E.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 156 KB

english, 2000

21

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes

Vanessa Lemahieu, J.M. Gastier, Uta Francke

Journal:

Year:

1999

Language:

english

File:

PDF, 499 KB

english, 1999

22

Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome

Julie M. Gastier, Mary Anne Berg, Per Vesterhus, Edward O. Reiter, Uta Francke

Journal:

Year:

2000

Language:

english

File:

PDF, 423 KB

english, 2000

23

Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22q

Dr. Kenneth M. Taylor, Uta Francke, Michael G. Brown, Donna L. George, Marilyn Kaufhold, J. M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1977

Language:

english

File:

PDF, 1019 KB

english, 1977

24

X-inactivation pattern in three cases of X/autosome translocation

Dr. Bernhard U. Zabel, Walter A. Baumann, Wilfried Pirntke, Kathrein Gerhard-Ratschow, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1978

Language:

english

File:

PDF, 502 KB

english, 1978

25

Size and pericentric inversion heteromorphisms of secondary constriction regions (h) of chromosomes 1, 9, and 16 as detected by CBG technique in Caucasians: Classification, frequencies, and incidence

Dr Ram S. Verma, Harvey Dosik, Herbert A. Lubs, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1978

Language:

english

File:

PDF, 462 KB

english, 1978

26

Partial trisomy of chromosome 1 resulting from a complex maternal rearrangement of chromosomes 1, 5, and 6

T. W. J. Hustinx, F. A. E. Nabben, J. M. J. C. Scheres, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1979

Language:

english

File:

PDF, 302 KB

english, 1979

27

Distal 2q duplication: Report of two familial cases and an attempt to define a syndrome

Dr. M. Zankl, G. Schwanitz, P. Schmid, H. Zankl, G. Dockter, A. Rodewald, K. D. Zang, K.-P. Grosse, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1979

Language:

english

File:

PDF, 583 KB

english, 1979

28

Deletion mapping: Further evidence for the location of acid phosphatase (ACP1) within 2p23

Dr. B. S. Emanuel, E. H. Zackai, D. C. Van Dyke, D. M. Swallow, F. H. Allen, W. J. Mellman, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1979

Language:

english

File:

PDF, 315 KB

english, 1979

29

Pentasomy X with multiple dislocations

Randall F. Dryer, Shivanand R. Patil, Hans U. Zellweger, Jane M. Simpson, James W. Hanson, Carol Aschenbrenner, Stuart L. Weinstein, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1979

Language:

english

File:

PDF, 500 KB

english, 1979

30

Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 → 7p21

Marvin Miller, Genevieve Kaufman, George Reed, Robert Bilenker, Albert Schinzel, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1979

Language:

english

File:

PDF, 570 KB

english, 1979

31

Duplication 11p11.3 → 14.1 to meiotic crossing-over

Richard J. Strobel, Vincent M. Riccardi, David H. Ledbetter, Helen M. Hittner, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1980

Language:

english

File:

PDF, 387 KB

english, 1980

32

Duplication 12q mosaicism in two unrelated patients with a similar syndrome

M. J. E. Harrod, J. B. Byrne, V. G. Dev, Uta Francke, John M. Optiz

Journal:

American Journal of Medical Genetics Part A

Year:

1980

Language:

english

File:

PDF, 439 KB

english, 1980

33

Partial 3q trisomy due to an unbalanced 3/10 translocation

Bruce Blumberg, Robin Moore, T. Mohandas, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1980

Language:

english

File:

PDF, 385 KB

english, 1980

34

Human chromosome heteromorphisms in American blacks: II. Higher incidence of pericentric inversions of secondary constriction regions (h)

Dr. Ram S. Verma, Jorge Rodriguez, Harvey Dosik, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1981

Language:

english

File:

PDF, 414 KB

english, 1981

35

dup(12p) and hypoplastic left heart

Qutub H. Qazi, R. Kanchanapoomi, Rubin Cooper, Cecily Madahar, Eva Beller, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1981

Language:

english

File:

PDF, 235 KB

english, 1981

36

De novo partial 2p duplication with postmortem description

P. L. Monteleone, J. D. Blair, E. R. Graviss, Su-Chiung Chen, A. Salvador, J. A. Grzegocki, J. A. Monteleone, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1981

Language:

english

File:

PDF, 428 KB

english, 1981

37

H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis

Florence P. Haseltine, Vincent A. Lynch, Daniel L. Van Dyke, W. Roy Breg, Uta Francke, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1982

Language:

english

File:

PDF, 524 KB

english, 1982

38

Aqueductal stenosis leading to hydrocephalus—an unusual manifestation of neurofibromatosis

Arthur Horwich, Vincent M. Riccardi, Dr. Uta Francke, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 325 KB

english, 1983

39

Minute chromosomes replacing the Y chromosome carry Y-specific sequences by restriction fragment analysis and in situ hybridization

Dr. Maximilian Münke, Bérengère de Martinville, Uta Francke, Ernest Lieber, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 934 KB

english, 1985

40

Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases

Dr. Dorothy Warburton, Kwame Anyane-Yeboa, Uta Francke, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 851 KB

english, 1987

41

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophy in cDNA

Basil T. Darras, Michel Koenig, Louis M. Kunkel, Uta Francke, John M. Optiz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 821 KB

english, 1988

42

Conference report The Second International Symposium on the Marfan Syndrome

Reed E. Pyeritz, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 834 KB

english, 1993

43

Roberts syndrome: A review of 100 cases and a new rating system for severity

David J. Van Den Berg, Dr. Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 1.44 MB

english, 1993

44

Fibrillin abnormalities and prognosis in marfan syndrome and related disorders

Takeshi Aoyama, Uta Francke, Cheryll Gasner, Heinz Furthmayr

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 843 KB

english, 1995

45

Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome

Nadia P. Belichenko, Pavel V. Belichenko, Hong Hua Li, William C. Mobley, Uta Francke

Journal:

The Journal of Comparative Neurology

Year:

2008

Language:

english

File:

PDF, 710 KB

english, 2008

46

Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of rett syndrome: Evidence for disruption of neuronal networks

Pavel V. Belichenko, Elena E. Wright, Nadia P. Belichenko, Eliezer Masliah, Hong Hua Li, William C. Mobley, Uta Francke

Journal:

The Journal of Comparative Neurology

Year:

2009

Language:

english

File:

PDF, 2.88 MB

english, 2009

47

Identity of human Lyb-2 and CD72 and localization of the gene to chromosome 9

Ilka von Hoegen, Chih-Lin Hsieh, Roland Scharting, Uta Francke, Jane R. Parnes

Journal:

European Journal of Immunology

Year:

1991

Language:

english

File:

PDF, 677 KB

english, 1991

48

On the bumpy road towards ‘personalized medicine’

Journal:

EMBO Molecular Medicine

Year:

2010

Language:

english

File:

PDF, 82 KB

english, 2010

49

Technologies for detecting heritable mutations in human beings. Washington, D.C.: U.S. Government Printing Office, 1986, 144 pp, $8.00

Journal:

Genetic Epidemiology

Year:

1987

Language:

english

File:

PDF, 148 KB

english, 1987

50

Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome

Mary Anne Berg, Jaime Guevara-Aguirre, Arlan L. Rosenbloom, Ron G. Rosenfeld, Uta Francke

Journal:

Year:

1992

Language:

english

File:

PDF, 1.00 MB

english, 1992