Sheila L. Unger: search on Z-Library

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1

Declines in HPV vaccine type prevalence in women screened for cervical cancer in the United States: Evidence of direct and herd effects of vaccination

Markowitz, Lauri E., Naleway, Allison L., Lewis, Rayleen M., Crane, Bradley, Querec, Troy D., Weinmann, Sheila, Steinau, Martin, Unger, Elizabeth R.

Journal:

Year:

2019

Language:

english

File:

PDF, 377 KB

english, 2019

2

Nosology and classification of genetic skeletal disorders: 2006 revision

Andrea Superti-Furga, Sheila Unger

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 141 KB

english, 2007

3

Filamin A mutation is one cause of FG syndrome

Sheila Unger, Anita Mainberger, Christian Spitz, Anna Bähr, Christine Zeschnigk, Bernhard Zabel, Andrea Superti-Furga, Deborah J. Morris-Rosendahl

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 96 KB

english, 2007

4

Al-Awadi–Raas-Rothschild (limb/pelvis/uterus–hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation

Livia Garavelli, Anita Wischmeijer, Simonetta Rosato, Chiara Gelmini, Sandro Reverberi, Silvia Sassi, Adriano Ferrari, Francesca Mari, Bernhard Zabel, Ekkehart Lausch, Sheila Unger, Andrea Superti-Fur

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 217 KB

english, 2011

5

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)

Lisenka E.L.M. Vissers, Virginia Fano, Diego Martinelli, Belinda Campos-Xavier, Domenico Barbuti, Tae-Joon Cho, Ahmet Dursun, Ok Hwa Kim, Sun Hee Lee, Giuseppina Timpani, Gen Nishimura, Sheila Unger,

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 518 KB

english, 2011

6

Childhood Trauma and Prescription Drug Misuse in a College Population

Pakdaman, Sheila, Unger, Jennifer B., Forster, Myriam, Rogers, Christopher J., Sussman, Steve Y., Benjamin, Stephanie M.

Journal:

Substance Use & Misuse

Year:

2021

File:

PDF, 1.41 MB

2021

7

Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies

Harrison, Karen J., Teshima, Ikuko E., Silver, Meredith M., Jay, Venita, Unger, Sheila, Robinson, Wendy P., James, Andrew, Levin, Alex, Chitayat, David

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 191 KB

english, 1998

8

Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up

Patel, Millan S., Callahan, John W., Zhang, Sunqu, Chan, Alicia K.J., Unger, Sheila, Levin, Alex V., Skomorowski, Marie-Anne, Feigenbaum, Annette S., O'Brien, Karel, Hellmann, Jonathan, Ryan, Greg, Ve

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 495 KB

english, 1999

9

Oto-palato-digital syndrome, type II: Report of three cases with further delineation of the chondro-osseous morphology

Ravi Savarirayan, Valérie Cormier-Daire, Sheila Unger, Ralph S. Lachman, Peter J. Roughley, Stephen F. Wagner, David L. Rimoin, William R. Wilcox

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 821 KB

english, 2000

10

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita

Sheila Unger, Jarmo Korkko, Deborah Krakow, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 225 KB

english, 2001

11

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments

Sheila Unger, Jacqueline T. Hecht

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 161 KB

english, 2001

12

The mildest form of campomelic dysplasia

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 29 KB

english, 2005

13

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

Raffaele Renella, Elke Schaefer, Martine LeMerrer, Yasemin Alanay, Nurgun Kandemir, Georg Eich, Teresa Costa, Diana Ballhausen, Eugen Boltshauser, Luisa Bonafé, Andres Giedion, Sheila Unger, Andrea Su

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 323 KB

english, 2006

14

Fetus with two identical reciprocal translocations: Description of a rare complication of consanguinity

Danielle Martinet, Yvan Vial, Francine Thonney, Jacques S. Beckmann, Kathleen Meagher-Villemure, Sheila Unger

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 199 KB

english, 2006

15

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes

Wiktor Borozdin, Ana M. Bravo-Ferrer Acosta, Eva Seemanova, Michael Leipoldt, Michael J. Bamshad, Sheila Unger, Jürgen Kohlhase

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 245 KB

english, 2006

16

COL2A1–related skeletal dysplasias with predominant metaphyseal involvement

Kerstin Walter, Mojca Tansek, Edward S. Tobias, Shiro Ikegawa, Paul Coucke, James Hyland, Geert Mortier, Tsutomu Iwaya, Gen Nishimura, Andrea Superti-Furga, Sheila Unger

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 202 KB

english, 2007

17

“Is NF1 a genetic skeletal disorder?”—A response

Sheila Unger, Andrea Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 52 KB

english, 2007

18

Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings

David Chitayat, Patrick Shannon, Sarah Keating, Ants Toi, Susan Blaser, Tami Friedberg, Andrea Superti-Furga, Karen Chong, Sheila Unger

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 330 KB

english, 2007

19

Clinical and radiographic delineation of odontochondrodysplasia

Sheila Unger, Franco Antoniazzi, Milena Brugnara, Yasemin Alanay, Ahmet Caglayan, Katherine Lachlan, Shiro Ikegawa, Gen Nishimura, Bernhard Zabel, Jürgen Spranger, Andrea Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 343 KB

english, 2008

20

Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases

David Chitayat, Sarah Keating, Dina J. Zand, Teresa Costa, Elaine H. Zackai, Earl Silverman, George Tiller, Sheila Unger, Stephen Miller, John Kingdom, Ants Toi, Cynthia J.R. Curry

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 421 KB

english, 2008

21

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

Ok-Hwa Kim, Gen Nishimura, Hae-Ryong Song, Yoshito Matsui, Satoru Sakazume, Masanobu Yamada, Yoko Narumi, Yasemin Alanay, Sheila Unger, Tae-Joon Cho, Sung Sup Park, Shiro Ikegawa, Peter Meinecke, Andr

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 317 KB

english, 2010

22

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

Gen Nishimura, Jin Dai, Ekkehart Lausch, Sheila Unger, André Megarbané, Hiroshi Kitoh, Ok Hwa Kim, Tae-Joon Cho, Francesca Bedeschi, Francesco Benedicenti, Roberto Mendoza-Londono, Margherita Silengo,

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 257 KB

english, 2010

23

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

Sheila Unger, Ekkehart Lausch, Antonio Rossi, Andre Mégarbané, David Sillence, Melanie Alcausin, Antonio Aytes, Roberto Mendoza-Londono, Sheela Nampoothiri, Bushra Afroze, Bryan Hall, Ivan F.M. Lo, St

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 242 KB

english, 2010

24

Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes

Ok-Hwa Kim, Hyunwoong Park, Moon-Woo Seong, Tae-Joon Cho, Gen Nishimura, Andrea Superti-Furga, Sheila Unger, Shiro Ikegawa, In Ho Choi, Hae-Ryong Song, Hyun Woo Kim, Won Joon Yoo, Jong Sup Shim, Chin

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 328 KB

english, 2011

25

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Sheila Unger, Ekkehart Lausch, Franco Stanzial, Gabriele Gillessen-Kaesbach, Irina Stefanova, Cristina Maria Di Stefano, Enrico Bertini, Carlo Dionisi-Vici, Bernd Nilius, Bernhard Zabel, Andrea Supert

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 350 KB

english, 2011

26

X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings

Shalini Umranikar, Phyllis Glanc, Sheila Unger, Sarah Keating, Katherine Fong, Christopher D Trevors, Diane Myles-Reid, David Chitayat

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 147 KB

english, 2006

27

Petrified ears in a patient with Keutel syndrome: temporal bone CT findings

Hemant Parmar, Susan Blaser, Sheila Unger, Shi-Joon Yoo, Blake Papsin

Journal:

Pediatric Radiology

Year:

2006

Language:

english

File:

PDF, 150 KB

english, 2006

28

Fetal MR imaging of atelosteogenesis type II (AO-II)

Elka Miller, Susan Blaser, Stephen Miller, Sarah Keating, Megan Thompson, Sheila Unger, Ants Toi, Howard Berger, Karen Chong

Journal:

Pediatric Radiology

Year:

2008

Language:

english

File:

PDF, 196 KB

english, 2008

29

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

Sheila L. Unger, Michael D. Briggs, Paul Holden, Bernhard Zabel, Leena Ala-Kokko, Petteri Paassilta, Jaana Lohiniva, David L. Rimoin, R. S. Lachman, Daniel H. Cohn

Journal:

Pediatric Radiology

Year:

2001

Language:

english

File:

PDF, 194 KB

english, 2001

30

“Duplicate calcaneus”: a rare developmental defect observed in several skeletal dysplasias

Valérie Cormier-Daire, Ravi Savarirayan, Sheila Unger, David L. Rimoin, Ralph S. Lachman

Journal:

Pediatric Radiology

Year:

2001

Language:

english

File:

PDF, 91 KB

english, 2001

31

A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients

Ok-Hwa Kim, Tae-Joon Cho, Hae-Ryong Song, Chin Youb Chung, Shin-Ichiro Miyagawa, Gen Nishimura, Andrea Superti-Furga, Sheila Unger

Journal:

Skeletal Radiology

Year:

2009

Language:

english

File:

PDF, 321 KB

english, 2009

32

Mucolipidosis II presenting as severe neonatal hyperparathyroidism

Sheila Unger, David A. Paul, Michelle C. Nino, Charles P. McKay, Stephen Miller, Etienne Sochett, Nancy Braverman, Joe T. R. Clarke, David E. C. Cole, Andrea Superti-Furga

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 359 KB

english, 2005

33

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

Hermanns, Pia, Giovannucci-Uzielli, Maria L, Galluzzi, Fiorella, Scott, Daryl, Lee, Brendan, Renieri, Alessandra, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea, Mari, Francesca

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 286 KB

english, 2009

34

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

Böhm, Johann, Barrionuevo, Francisco, Craig, Alexander, Unger, Sheila, Böhm, Detlef, Kaiser, Frank J, Kaulfuß, Silke, Borozdin, Wiktor, Buiting, Karin, Burfeind, Peter

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 268 KB

english, 2008

35

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Zankl, Andreas, Jackson, Gail C, Crettol, Laureane Mittaz, Taylor, Jacky, Elles, Rob, Mortier, Geert R, Spranger, Jurgen, Zabel, Bernhard, Unger, Sheila, Merrer, Martine Le

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 154 KB

english, 2006

36

TRPV4-associated skeletal dysplasias

Gen Nishimura, Ekkehart Lausch, Ravi Savarirayan, Masahiro Shiba, Juergen Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti-Furga, Sheila Unger

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 545 KB

english, 2012

37

New topics in the skeletal dysplasias

Sheila Unger, Luisa Bonafé, Andrea Superti-Furga

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 63 KB

english, 2012

38

Severe cleidocranial dysplasia can mimic hypophosphatasia

Unger, Sheila, Mornet, Etienne, Mundlos, Stefan, Blaser, Susan, Cole, David

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 259 KB

english, 2002

39

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Perez-Aytes, Hector Cortina, Luisa Bonafé, Loredana Boccone, Valeria Setzu, Michel Dutoit, Luca Sangiorgi, Fabio Pecora, Kerstin Reicherter, Gen Nish

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 708 KB

english, 2008

40

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Perez-Aytes, Hector Cortina, Luisa Bonafé, Loredana Boccone, Valeria Setzu, Michel Dutoit, Luca Sangiorgi, Fabio Pecora, Kerstin Reicherter, Gen Nish

Journal:

The American Journal of Human Genetics

Year:

2008

File:

PDF, 26 KB

2008

41

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

Ekkehart Lausch, Pia Hermanns, Henner F. Farin, Yasemin Alanay, Sheila Unger, Sarah Nikkel, Christoph Steinwender, Gerd Scherer, Jürgen Spranger, Bernhard Zabel, Andreas Kispert, Andrea Superti-Furga

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 615 KB

english, 2008

42

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Ana Belinda Campos-Xavier, Danielle Martinet, John Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, Alica Baxová, Karl-Henrik Gustavson, Zvi U. Borochowitz, A. Micheil Innes, Sheila Unger, Jacque

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.17 MB

english, 2009

43

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valerie Cormier-Daire, Sarah Nikkel, Gen Nishimura, Sheila Unger, Jürgen Spranger, Andrea Superti-Furga, Bernhard Zabel

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.10 MB

english, 2009

44

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valerie Cormier-Daire, Sarah Nikkel, Gen Nishimura, Sheila Unger, Jürgen Spranger, Andrea Superti-Furga, Bernhard Zabel

Journal:

The American Journal of Human Genetics

Year:

2009

File:

PDF, 145 KB

2009

45

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

Lisenka E.L.M. Vissers, Ekkehart Lausch, Sheila Unger, Ana Belinda Campos-Xavier, Christian Gilissen, Antonio Rossi, Marisol Del Rosario, Hanka Venselaar, Ute Knoll, Sheela Nampoothiri, Mohandas Nair,

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 954 KB

english, 2011

46

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

Sheila Unger, Luisa Bonafé, Andrea Superti-Furga

Journal:

Best Practice & Research Clinical Rheumatology

Year:

2008

Language:

english

File:

PDF, 859 KB

english, 2008

47

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

Bert Callewaert, Chi-Ting Su, Tim Van Damme, Philip Vlummens, Fransiska Malfait, Olivier Vanakker, Bianca Schulz, Meghan Mac Neal, Elaine C. Davis, Joseph G.H. Lee, Aicha Salhi, Sheila Unger, Ketil He

Journal:

Year:

2012

Language:

english

File:

PDF, 775 KB

english, 2012

48

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type

Claudine Rieubland, Sebastien Jacquemont, Laureane Mittaz, Maria-Chiara Osterheld, Yvan Vial, Andrea Superti-Furga, Sheila Unger, Luisa Bonafé

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 494 KB

english, 2010

49

Clinical and radiological findings in Pallister–Killian syndrome

Saumya Jamuar, Angeline Lai, Sheila Unger, Gen Nishimura

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 849 KB

english, 2012

50

Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12

Nadia Ehtesham, Rita M. Cantor, Lily M. King, Kent Reinker, Berkley R. Powell, Alan Shanske, Sheila Unger, David L. Rimoin, Daniel H. Cohn

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 721 KB

english, 2002