Frank Oeffner: search on Z-Library

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1

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Frank Oeffner, Gayle Fischer, Rudolf Happle, Arne König, Regina C. Betz, Dorothea Bornholdt, Ulrike Neidel, María del Carmen Boente, Silke Redler, Javier Romero-Gomez, Aïcha Salhi, Ángel Vera-Casaño,

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1022 KB

english, 2009

2

PORCN mutations in focal dermal hypoplasia: coping with lethality

Dorothea Bornholdt, Frank Oeffner, Arne König, Rudolf Happle, Yasemin Alanay, Jeffrey Ascherman, Paul J. Benke, María del Carmen Boente, Ineke van der Burgt, Nicolas Chassaing, Ian Ellis, Christina Ra

Journal:

Year:

2009

Language:

english

File:

PDF, 232 KB

english, 2009

3

PORCN mutations in focal dermal hypoplasia: coping with lethality

Dorothea Bornholdt, Frank Oeffner, Arne König, Rudolf Happle, Yasemin Alanay, Jeffrey Ascherman, Paul J. Benke, María del Carmen Boente, Ineke van der Burgt, Nicolas Chassaing, Ian Ellis, Christina Ra

Journal:

Year:

2009

Language:

english

File:

PDF, 348 KB

english, 2009

4

A New Perspective at the Ship-Air-Sea-Interface: The Environmental Impacts of Exhaust Gas Scrubber Discharge

Endres, Sonja, Maes, Frank, Hopkins, Frances, Houghton, Katherine, Mårtensson, Eva M., Oeffner, Johannes, Quack, Birgit, Singh, Pradeep, Turner, David

Journal:

Frontiers in Marine Science

Year:

2018

Language:

english

File:

PDF, 1.22 MB

english, 2018

5

Independent Confirmation of a Major Locus for Obesity on Chromosome 10

Hinney, Anke, Ziegler, Andreas, Oeffner, Frank, Wedewardt, Christine, Vogel, Markus, Wulftange, Heiko, Geller, Frank, Stübing, Kurt, Siegfried, Wolfgang, Goldschmidt, Hans-Peter, Remschmidt, Helmut, H

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2000

Language:

english

File:

PDF, 347 KB

english, 2000

6

Is the risk of multiple sclerosis related to the ‘biography’ of the immune system?

Bernd Krone, Frank Oeffner, John M. Grange

Journal:

Journal of Neurology

Year:

2009

Language:

english

File:

PDF, 600 KB

english, 2009

7

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31

Malik, Sajid, Schott, Jörg, Ali, Syed Wajahat, Oeffner, Frank, Amin-ud-Din, Muhammad, Ahmad, Wasim, Grzeschik, Karl-Heinz, Koch, Manuela C

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 301 KB

english, 2005

8

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome

Frank Oeffner, Francisco Martinez, Julie Schaffer, Aïcha Salhi, Sandra Monfort, Silvestre Oltra, Ulrike Neidel, Dorothea Bornholdt, Bregje van Bon, Arne König, Rudolf Happle, Karl-Heinz Grzeschik

Journal:

Experimental Dermatology

Year:

2011

Language:

english

File:

PDF, 135 KB

english, 2011

9

An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation

Houge, Gunnar, Oeffner, Frank, Grzeschik, Karl-Heinz

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 48 KB

english, 2008

10

Cloning and characterization of gp36, a human mucin-type glycoprotein preferentially expressed in vascular endothelium

ZIMMER, Gert, OEFFNER, Frank, MESSLING, V. V, TSCHERNIG, Thomas, GRÖNE, H, KLENK, H, HERRLER, Georg

Journal:

Biochemical Journal

Year:

1999

Language:

english

File:

PDF, 236 KB

english, 1999

11

A novel type of autosomal recessive syndactyly: Clinical and molecular studies in a family of Pakistani origin

Sajid Malik, Muhammad Arshad, Muhammad Amin-ud-Din, Frank Oeffner, Astrid Dempfle, Sayedul Haque, Manuela C. Koch, Wasim Ahmad, Karl-Heinz Grzeschik

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 173 KB

english, 2004

12

Donor Dominance Cures CHILD Nevus

König, Arne, Skrzypek, Jan, Löffler, Harald, Oeffner, Frank, Grzeschik, Karl-Heinz, Ha, ppl.:e, Rudolf

Journal:

Year:

2010

Language:

english

File:

PDF, 1.55 MB

english, 2010

13

Monozygotic twins discordant for Proteus syndrome

Knut Brockmann, Rudolf Happle, Frank Oeffner, Arne König

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 167 KB

english, 2008

14

Cloning and characterization of gp36, a human mucin-type glycoprotein preferentially expressed in vascular endothelium

ZIMMER, Gert, OEFFNER, Frank, VON MESSLING, Veronika, TSCHERNIG, Thomas, GRÖNE, Hermann-Josef, KLENK, Hans-Dieter, HERRLER, Georg

Journal:

Biochemical Journal

Year:

1999

Language:

english

File:

PDF, 236 KB

english, 1999

15

Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to Xp22.3

Walter Lisch, Andreas Büttner, Frank Oeffner, Inke Böddeker, Hartmut Engel, Christina Lisch, Andreas Ziegler, Karl-Heinz Grzeschik

Journal:

American Journal of Ophthalmology

Year:

2000

Language:

english

File:

PDF, 643 KB

english, 2000

16

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

Grzeschik, Karl-Heinz, Bornholdt, Dorothea, Oeffner, Frank, König, Arne, del Carmen Boente, María, Enders, Herbert, Fritz, Barbara, Hertl, Michael, Grasshoff, Ute, Höfling, Katja

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 263 KB

english, 2007

17

Menkes disease with discordant phenotype in female monozygotic twins

Burgemeister, Anna Lena, Zirn, Birgit, Oeffner, Frank, Kaler, Stephen G., Lemm, Gunther, Rossier, Eva, Büttel, Hans-Martin

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 3.91 MB

english, 2015

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