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1

Effect of CYP1A1 Gene Polymorphisms on Estrogen Metabolism and Bone Density

Nicola Napoli, Dennis T Villareal, Steven Mumm, Linda Halstead, Sharmin Sheikh, Manuel Cagaanan, Giovam Battista Rini, Reina Armamento-Villareal

Journal:

Journal of Bone and Mineral Research

Year:

2005

Language:

english

File:

PDF, 172 KB

english, 2005

2

Autosomal Recessive Hypophosphatasia Manifesting in Utero with Long Bone Deformity but Showing Spontaneous Postnatal Improvement

Stevenson, David A., Carey, John C., Coburn, Stephen P., Ericson, Karen L., Byrne, Janice L. B., Mumm, Steven, Whyte, Michael P.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2008

Language:

english

File:

PDF, 194 KB

english, 2008

3

ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE

Camacho, Pauline M., Mazhari, Alaleh M., Wilczynski, Cory, Kadanoff, Ruth, Mumm, Steven, Whyte, Michael P.

Journal:

Endocrine Practice

Year:

2016

Language:

english

File:

PDF, 760 KB

english, 2016

4

Denaturing Gradient Gel Electrophoresis Analysis of the Tissue Nonspecific Alkaline Phosphatase Isoenzyme Gene in Hypophosphatasia

Steven Mumm, Jonathan Jones, Patrick Finnegan, Paula S. Henthorn, Michelle N. Podgornik, Michael P. Whyte

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 355 KB

english, 2002

5

Identification of a U7snRNA homologue mapping to the human Xq27.1 region, between the DXS1232 and DXS119 loci

Marina Mostardini, Valentina Appierto, Rossana Pergolizzi, Ileana Zucchi, Steven Mumm, GianLuca DeBellis, Luciano Milanesi, Igor B. Rogozin, Ida Biunno

Journal:

Year:

1997

Language:

english

File:

PDF, 105 KB

english, 1997

6

SOX3 gene maps near DXS984 in Xq27.1, within candidate regions for several X-linked disorders

Mumm, Steven, Zucchi, Ileana, Pilia, Giuseppe

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 53 KB

english, 1997

7

Genes and translocations involved in POF

David Schlessinger, Luisa Herrera, Laura Crisponi, Steven Mumm, Antonio Percesepe, Massimo Pellegrini, Giuseppe Pilia, Antonino Forabosco

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 170 KB

english, 2002

8

Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?

Carrie L. Heike, Michael L. Cunningham, Robert D. Steiner, Deborah Wenkert, Robin L. Hornung, Joseph S. Gruss, Francis H. Gannon, William H. McAlister, Steven Mumm, Michael P. Whyte

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 458 KB

english, 2005

9

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy

Sarju G. Mehta, Giles D.J. Watts, Barbara McGillivray, Steven Mumm, Sara Jane Hamilton, Sheena Ramdeen, Deborah Novack, Christine Briggs, Michael P. Whyte, Virginia E. Kimonis

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 209 KB

english, 2006

10

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

Virginia. E. Kimonis, Sarju G. Mehta, Erin C. Fulchiero, Dana Thomasova, Marzia Pasquali, Kym Boycott, Edward G. Neilan, Alex Kartashov, Mark S. Forman, Stuart Tucker, Katerina Kimonis, Steven Mumm, M

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 427 KB

english, 2008

11

Dysosteosclerosis presents as an “Osteoclast-Poor” form of osteopetrosis: Comprehensive investigation of a 3-year-old girl and literature review

Michael P Whyte, Deborah Wenkert, William H McAlister, Deborah V Novack, Angie R Nenninger, Xiafang Zhang, Margaret Huskey, Steven Mumm

Journal:

Journal of Bone and Mineral Research

Year:

2010

Language:

english

File:

PDF, 575 KB

english, 2010

12

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

Michael P Whyte, Lydia G Kempa, William H McAlister, Fan Zhang, Steven Mumm, Deborah Wenkert

Journal:

Journal of Bone and Mineral Research

Year:

2010

Language:

english

File:

PDF, 437 KB

english, 2010

13

Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand

Michael P Whyte, William G Totty, Deborah V Novack, Xiafang Zhang, Deborah Wenkert, Steven Mumm

Journal:

Journal of Bone and Mineral Research

Year:

2011

Language:

english

File:

PDF, 1.35 MB

english, 2011

14

Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)

Deborah Wenkert, William H McAlister, Stephen P Coburn, Janice A Zerega, Lawrence M Ryan, Karen L Ericson, Joseph H Hersh, Steven Mumm, Michael P Whyte

Journal:

Journal of Bone and Mineral Research

Year:

2011

Language:

english

File:

PDF, 273 KB

english, 2011

15

Development of an evolved gas-time-of-flight mass spectrometer for the Volatile Analysis by Pyrolysis of Regolith (VAPoR) instrument

Stephanie A. Getty, Inge L. ten Kate, Steven H. Feng, William B. Brinckerhoff, Eric H. Cardiff, Vincent E. Holmes, Todd T. King, Mary J. Li, Erik Mumm, Paul R. Mahaffy, Daniel P. Glavin

Journal:

International Journal of Mass Spectrometry

Year:

2010

Language:

english

File:

PDF, 592 KB

english, 2010

16

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome

Giles D.J. Watts, Sarju G. Mehta, Chengfeng Zhao, Sheena Ramdeen, Sara Jane Hamilton, Deborah V. Novack, Steven Mumm, Michael P. Whyte, Barbara Mc Gillivray, Virginia E. Kimonis

Journal:

Year:

2005

Language:

english

File:

PDF, 317 KB

english, 2005

17

Volumetric Holography of Cardiac Defects in Humans : Initial Clinical Experience Using Tomographic Echocardiographic Data

MANI A. VANNAN, NATESA G. PANDIAN, MICHAEL N. DALTON, STEVEN L. SCHWARTZ, BERNHARD MUMM, QI-LING CAO

Journal:

Echocardiography

Year:

1998

Language:

english

File:

PDF, 945 KB

english, 1998

18

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Watts, Giles D J, Wymer, Jill, Kovach, Margaret J, Mehta, Sarju G, Mumm, Steven, Darvish, Daniel, Pestronk, Alan, Whyte, Michael P, Kimonis, Virginia E

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 708 KB

english, 2004

19

Oropharyngeal Skeletal Disease Accompanying High Bone Mass and Novel LRP5 Mutation

Michael R Rickels, Xiafang Zhang, Steven Mumm, Michael P Whyte

Journal:

Journal of Bone and Mineral Research

Year:

2005

Language:

english

File:

PDF, 712 KB

english, 2005

20

CYP1A1: Ethnic and Population Differences in Allelic Frequencies and Interpretation of Bone Biology Studies

Nicola Napoli, Steven Mumm, Reina Armamento-Villareal

Journal:

Journal of Bone and Mineral Research

Year:

2006

Language:

english

File:

PDF, 41 KB

english, 2006

21

Deactivating Germline Mutations in LEMD3 Cause Osteopoikilosis and Buschke-Ollendorff Syndrome, but Not Sporadic Melorheostosis

Steven Mumm, Deborah Wenkert, Xiafang Zhang, William H McAlister, Richard J Mier, Michael P Whyte

Journal:

Journal of Bone and Mineral Research

Year:

2007

Language:

english

File:

PDF, 3.11 MB

english, 2007

22

Juvenile Paget's Disease: The Second Reported, Oldest Patient Is Homozygous for the TNFRSF11B “Balkan” Mutation (966_969delTGACinsCTT), Which Elevates Circulating Immunoreactive Osteoprotegerin Levels

Michael P Whyte, Panagiotis N Singhellakis, Michael B Petersen, Michael Davies, William G Totty, Steven Mumm

Journal:

Journal of Bone and Mineral Research

Year:

2007

Language:

english

File:

PDF, 2.41 MB

english, 2007

23

Chronic Recurrent Multifocal Osteomyelitis Mimicked in Childhood Hypophosphatasia

Michael P Whyte, Deborah Wenkert, William H McAlister, M Zulf Mughal, Anthony J Freemont, Richard Whitehouse, Eileen M Baildam, Stephen P Coburn, Lawrence M Ryan, Steven Mumm

Journal:

Journal of Bone and Mineral Research

Year:

2009

Language:

english

File:

PDF, 2.05 MB

english, 2009

24

Preonset Studies of Spondyloepiphyseal Dysplasia Tarda Caused by a Novel 2-Base Pair Deletion in SEDL Encoding Sedlin

Steven Mumm, Xiafang Zhang, Gary S. Gottesman, William H. McAlister, Michael P. Whyte

Journal:

Journal of Bone and Mineral Research

Year:

2001

Language:

english

File:

PDF, 973 KB

english, 2001

25

Historical Vignette: Hypophosphatasia: Molecular Diagnosis of Rathbun's Original Case

Steven Mumm, Jonathan Jones, Patrick Finnegan, Michael P. Whyte

Journal:

Journal of Bone and Mineral Research

Year:

2001

Language:

english

File:

PDF, 549 KB

english, 2001

26

Marrow Cell Transplantation for Infantile Hypophosphatasia

Michael P Whyte, Joanne Kurtzberg, William H McALISTER, Steven Mumm, Michelle N Podgornik, Stephen P Coburn, Lawrence M Ryan, Cindy R Miller, Gary S Gottesman, Alan K Smith, Judy Douville, Barbara Wat

Journal:

Journal of Bone and Mineral Research

Year:

2003

Language:

english

File:

PDF, 1.42 MB

english, 2003

27

Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1

Michael P Whyte, Deborah Wenkert, Jennifer L Demertzis, Edward F DiCarlo, Erica Westenberg, Steven Mumm

Journal:

Journal of Bone and Mineral Research

Year:

2012

Language:

english

File:

PDF, 466 KB

english, 2012

28

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia

Roger AL Sutton, Steven Mumm, Stephen P Coburn, Karen L Ericson, Michael P Whyte

Journal:

Journal of Bone and Mineral Research

Year:

2012

Language:

english

File:

PDF, 279 KB

english, 2012

29

Characterization of a stable eukaryotic cell line expressing the rous sarcoma virus integrase

Steven R. Mumm, Paul J. Hippenmeyer, Duane P. Grandgenett

Journal:

Year:

1992

Language:

english

File:

PDF, 3.00 MB

english, 1992

30

IL-10 Elicits IFNγ-Dependent Tumor Immune Surveillance

John B. Mumm, Jan Emmerich, Xueqing Zhang, Ivan Chan, Lingling Wu, Smita Mauze, Steven Blaisdell, Beth Basham, Jie Dai, Jeff Grein, Catherine Sheppard, Kyu Hong, Collette Cutler, Scott Turner, Drake L

Journal:

Year:

2011

Language:

english

File:

PDF, 1.01 MB

english, 2011

31

Expression and Cloning of the Human X-Linked Hypophosphatemia Gene cDNA

Marvin Grieff, Steven Mumm, Paul Waeltz, Richard Mazzarella, Michael P Whyte, Rajesh V Thakker, David Schlessinger

Journal:

Biochemical and Biophysical Research Communications

Year:

1997

Language:

english

File:

PDF, 423 KB

english, 1997

32

Refined Mapping and YAC Contig Construction of the X-Linked Cleft Palate and Ankyloglossia Locus (CPX) Including the Proximal X–Y Homology Breakpoint within Xq21.3

Simon A. Forbes, Lyndall Brennan, Michael Richardson, Alison Coffey, Charlotte G. Cole, Simon G. Gregory, David R. Bentley, Steven Mumm, Gudrun E. Moore, Philip Stanier

Journal:

Year:

1996

Language:

english

File:

PDF, 124 KB

english, 1996

33

YAC/STS Map across 12 Mb of Xq27 at 25-kb Resolution, Merging Xq26–qter

Ileana Zucchi, Steven Mumm, Giuseppe Pilia, Sandra Macmillan, Rolland Reinbold, Lucia Susani, Jean Weissenbach, David Schlessinger

Journal:

Year:

1996

Language:

english

File:

PDF, 506 KB

english, 1996

34

YAC/STS Map of 9 Mb of Xq26 at 100-kb Resolution, Localizing 6 ESTs, 6 Genes, and 32 Genetic Markers

Giuseppe Pilia, Sandra MacMillan, Ramaiah Nagaraja, Steven Mumm, Jean Weissenbach, David Schlessinger

Journal:

Year:

1996

Language:

english

File:

PDF, 236 KB

english, 1996

35

Transcription Map of Xq27: Candidates for Several X-Linked Diseases

Ileana Zucchi, Jonathan Jones, Maurizio Affer, Cristina Montagna, Elena Redolfi, Lucia Susani, Paolo Vezzoni, Ruti Parvari, David Schlessinger, Michael P. Whyte, Steven Mumm

Journal:

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

36

Integrated STS/YAC Physical, Genetic, and Transcript Map of Human Xq21.3 to q23/q24 (DXS1203–DXS1059)

Anand K. Srivastava, Sandra McMillan, Christopher Jermak, Michael Shomaker, Susan A. Copeland-Yates, Khalid Sossey-Alaoui, Steven Mumm, David Schlessinger, Ramaiah Nagaraja

Journal:

Year:

1999

Language:

english

File:

PDF, 1.07 MB

english, 1999

37

Evolution of the X-Specific Block Embedded in the Human Xq21.3/Yp11.1 Homology Region

Marcella Vacca, Maria Rosaria Matarazzo, Jonathan Jones, Cosma Spalluto, Nicoletta Archidiacono, Peter Ma, Mariano Rocchi, Michele D'Urso, Ellson Y. Chen, Maurizio D'Esposito, Steven Mumm

Journal:

Year:

1999

Language:

english

File:

PDF, 110 KB

english, 1999

38

χ/Autosomal Translocations in the χq Critical Region Associated with Premature Ovarian Failure Fall within and outside Genes

Steven Mumm, Luisa Herrera, Paul W Waeltz, Annalisa Scardovi, Ramaiah Nagaraja, Teresa Esposito, David Schlessinger, Mariano Rocchi, Antonino Forabosco

Journal:

Year:

2001

Language:

english

File:

PDF, 142 KB

english, 2001

39

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T > C, p.M226T; c.1112C > T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

Sara Baumgartner-Sigl, Edda Haberlandt, Steven Mumm, Sabine Scholl-Bürgi, Consolato Sergi, Lawrence Ryan, Karen L. Ericson, Michael P. Whyte, Wolfgang Högler

Journal:

Year:

2007

Language:

english

File:

PDF, 292 KB

english, 2007

40

The Val432Leu polymorphism of the CYP1B1 gene is associated with differences in estrogen metabolism and bone density

Nicola Napoli, Giovam Battista Rini, Daniel Serber, Tusar Giri, Jayasree Yarramaneni, Salvatore Bucchieri, Lawrence Camarda, Gaetana Di Fede, Marcello Rosolino Camarda, Sudahansu Jain, Steven Mumm, Re

Journal:

Year:

2009

Language:

english

File:

PDF, 321 KB

english, 2009

41

Effects of polymorphisms of the sex hormone-binding globulin (SHBG) gene on free estradiol and bone mineral density

Nicola Napoli, Ana Varadharajan, Giovam Batista Rini, Romano Del Fiacco, Jayasree Yarramaneni, Steven Mumm, Dennis T. Villareal, Reina Armamento-Villareal

Journal:

Year:

2009

Language:

english

File:

PDF, 168 KB

english, 2009

42

A microbial pathway for the formation of gold-anomalous calcrete

Frank Reith, Steven A. Wakelin, Adrienne L. Gregg, Andreas Schmidt Mumm

Journal:

Chemical Geology

Year:

2009

Language:

english

File:

PDF, 1.46 MB

english, 2009

43

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry

Michael P. Whyte, Kevan Essmyer, Michael Geimer, Steven Mumm

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 235 KB

english, 2006

44

The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site

Steven Mumm, Xiafang Zhang, Marcella Vacca, Maurizio D'Esposito, Michael P Whyte

Journal:

Year:

2001

Language:

english

File:

PDF, 3.09 MB

english, 2001

45

22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125–DXS95 in human Xq12–q21.31

Steven Mumm, Christopher Jermak, Paul Waeltz, Matthew Schmatz, Jennifer Terrell, Brigid McCauley, Michael Shoemaker, Anand Srivastava, Juha Kere, Ramaiah Nagaraja

Journal:

Year:

1998

Language:

english

File:

PDF, 614 KB

english, 1998

46

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

Otero, Jesse E, Gottesman, Gary S, McAlister, William H, Mumm, Steven, Madson, Katherine L, Kiffer-Moreira, Tina, Sheen, Campbell, Millán, José Luis, Ericson, Karen L, Whyte, Michael P

Journal:

Journal of Bone and Mineral Research

Year:

2013

Language:

english

File:

PDF, 447 KB

english, 2013

47

Silencer-delimited transgenesis: NRSE/RE1 sequences promote neural-specific transgene expression in a NRSF/REST-dependent manner

Xiayang Xie, Jonathan R Mathias, Marie-Ange Smith, Steven L Walker, Yong Teng, Martin Distel, Reinhard W Köster, Howard I Sirotkin, Meera T Saxena, Jeff S Mumm

Journal:

Year:

2012

Language:

english

File:

PDF, 3.78 MB

english, 2012

48

Evaluating human cancer cell metastasis in zebrafish

Teng, Yong, Xie, Xiayang, Walker, Steven, White, David T, Mumm, Jeff S, Cowell, John K

Journal:

Year:

2013

Language:

english

File:

PDF, 1.69 MB

english, 2013

49

Births, Marriages, and Deaths

Kere, Juha, Nagaraja, Ramaiah, Mumm, Steven, Ciccodicola, Alfredo, D'Urso, Michele, Schlessinger, David

Journal:

Year:

1946

Language:

english

File:

PDF, 208 KB

english, 1946

50

Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts

Kere, Juha, Nagaraja, Ramaiah, Mumm, Steven, Ciccodicola, Alfredo, D'Urso, Michele, Schlessinger, David

Journal:

Year:

1992

Language:

english

File:

PDF, 1.40 MB

english, 1992