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1

Osteogenesis imperfecta

Marini, Joan C., Forlino, Antonella, Bächinger, Hans Peter, Bishop, Nick J., Byers, Peter H., Paepe, Anne De, Fassier, Francois, Fratzl-Zelman, Nadja, Kozloff, Kenneth M., Krakow, Deborah, Montpetit,

Journal:

Nature Reviews Disease Primers

Year:

2017

Language:

english

File:

PDF, 6.04 MB

english, 2017

2

Osteogenesis Imperfecta || FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome

Krakow, Deborah

Year:

2014

Language:

english

File:

PDF, 731 KB

english, 2014

3

Nosology and classification of genetic skeletal disorders: 2010 revision

Matthew L. Warman, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen Robertson, Ravi Savari

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 180 KB

english, 2011

4

The Skeletal Dysplasias : Clinical–Molecular Correlations

DAVID L. RIMOIN, DANIEL COHN, DEBORAH KRAKOW, WILLIAM WILCOX, RALPH S. LACHMAN, YASEMIN ALANAY

Journal:

Annals of the New York Academy of Sciences

Year:

2007

Language:

english

File:

PDF, 67 KB

english, 2007

5

Polyvalvular Disease in a Fetus with Normal Chromosomes

Michelle Miller, Deborah Krakow, Samuel Pepkowitz

Journal:

Congenital Heart Disease

Year:

2007

Language:

english

File:

PDF, 347 KB

english, 2007

6

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series

Mukherjee, Debraj, Pressman, Barry D., Krakow, Deborah, Rimoin, David L., Danielpour, Moise

Journal:

Journal of Neurosurgery Pediatrics

Year:

2014

Language:

english

File:

PDF, 4.64 MB

english, 2014

7

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

Wilcox, William R., Tavormina, Patricia L., Krakow, Deborah, Kitoh, Hiroshi, Lachman, Ralph S., Wasmuth, John J., Thompson, Leslie M., Rimoin, David L.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 554 KB

english, 1998

8

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred

Ahmad, Mahmud, Ul Haque, Muhammad Faiyaz, Ahmad, Wasim, Abbas, Hasan, Haque, Sayedul, Krakow, Deborah, Rimoin, David L., Lachman, Ralph S., Cohn, Daniel H.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 503 KB

english, 1998

9

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

K�rkk�, Jarmo, Cohn, Daniel H., Ala-Kokko, Leena, Krakow, Deborah, Prockop, Darwin J.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 411 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

Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988–2006)

Yasemin Alanay, Deborah Krakow, David L. Rimoin, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 316 KB

english, 2007

12

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father

Diana Mitter, Deborah Krakow, Claire Farrington-Rock, Peter Meinecke

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 136 KB

english, 2008

13

The Erlenmeyer flask bone deformity in the skeletal dysplasias

Maha A. Faden, Deborah Krakow, Fatih Ezgu, David L. Rimoin, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 184 KB

english, 2009

14

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis

Deborah Krakow, Yasemin Alanay, Lauren P. Rimoin, Victoria Lin, William R. Wilcox, Ralph S. Lachman, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 276 KB

english, 2008

15

Spondylocarpotarsal synostosis: Long-term follow-up of a case due to FLNB mutations

Nicola Brunetti-Pierri, Valentina Esposito, Daniele De Brasi, Dario Maria Mattiacci, Deborah Krakow, Brendan Lee, Mariacarolina Salerno

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 81 KB

english, 2008

16

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)—A distinct syndrome?

Sérgio B. Sousa, Geneviéve Baujat, Véronique Abadie, Damien Bonnet, Daniel Sidi, Arnold Munnich, Deborah Krakow, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 246 KB

english, 2010

17

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia

Natalia Camacho, Deborah Krakow, Sharlin Johnykutty, Philip J. Katzman, Samuel Pepkowitz, Joris Vriens, Bernd Nilius, Brendan F. Boyce, Daniel H. Cohn

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 557 KB

english, 2010

18

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2

Stuart W. Tompson, Eissa Ali Faqeih, Leena Ala-Kokko, Jacqueline T. Hecht, Rika Miki, Tara Funari, Vincent A. Funari, Lisette Nevarez, Deborah Krakow, Daniel H. Cohn

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 214 KB

english, 2012

19

MED,COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

Ralph S. Lachman, Deborah Krakow, Daniel H. Cohn, David L. Rimoin

Journal:

Pediatric Radiology

Year:

2005

Language:

english

File:

PDF, 588 KB

english, 2005

20

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

Yasemin Alanay, Gulen Eda Utine, Ralph S. Lachman, Deborah Krakow, Ergul Tuncbilek

Journal:

Pediatric Radiology

Year:

2006

Language:

english

File:

PDF, 169 KB

english, 2006

21

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)

Stefan F. Nemec, Daniel H. Cohn, Deborah Krakow, Vincent A. Funari, David L. Rimoin, Ralph S. Lachman

Journal:

Pediatric Radiology

Year:

2012

Language:

english

File:

PDF, 609 KB

english, 2012

22

Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism

John M. Graham Jr., Deborah Krakow, Vernon T. Tolo, Andrew K. Smith, R. S. Lachman

Journal:

Pediatric Radiology

Year:

2001

Language:

english

File:

PDF, 205 KB

english, 2001

23

The skeleton and musculature on foetal MRI

Ursula Nemec, Stefan F. Nemec, Deborah Krakow, Peter C. Brugger, Gustavo Malinger, John M. Graham, David L. Rimoin, Daniela Prayer

Journal:

Insights into Imaging

Year:

2011

Language:

english

File:

PDF, 541 KB

english, 2011

24

10.1038/2458

Haque, Muhammad Faiyaz ul, King, Lily M., Krakow, Deborah, Cantor, Rita M., Rusiniak, Michael E., Swank, Richard T., Superti-Furga, Andrea, Haque, Sayedul, Abbas, Hasan, Ahmad, Wasim, Ahmad, Mahmud, C

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 104 KB

english, 1998

25

10.1038/6821

Warman, Matthew L., Gong, Yaoqin, Krakow, Deborah, Marcelino, Jose, Wilkin, Douglas, Chitayat, David, Babul-Hirji, Riyana, Hudgins, Louanne, Cremers, Cor W., Cremers, Frans P.M., Brunner, Han G., Rein

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 160 KB

english, 1999

26

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

Le Goff, Carine, Morice-Picard, Fanny, Dagoneau, Nathalie, Wang, Lauren W, Perrot, Claire, Crow, Yanick J, Bauer, Florence, Flori, Elisabeth, Prost-Squarcioni, Catherine, Krakow, Deborah

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 436 KB

english, 2008

27

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Krakow, Deborah, Robertson, Stephen P, King, Lily M, Morgan, Timothy, Sebald, Eiman T, Bertolotto, Cristina, Wachsmann-Hogiu, Sebastian, Acuna, Dora, Shapiro, Sandor S, Takafuta, Toshiro

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 1.34 MB

english, 2004

28

Exclusion of the Ellis–van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes

Krakow, Deborah, Salazar, Denise, Wilcox, William R, Rimoin, David L, Cohn, Daniel H

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 63 KB

english, 2000

29

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay

Wagner A.R. Baratela, Michael B. Bober, George E. Tiller, Ericka Okenfuss, Colleen Ditro, Angela Duker, Deborah Krakow, Deborah L. Stabley, Katia Sol-Church, William Mackenzie, Ralph Lachman, Charles

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 228 KB

english, 2012

30

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

Stuart W. Tompson, Barry Merriman, Vincent A. Funari, Maryline Fresquet, Ralph S. Lachman, David L. Rimoin, Stanley F. Nelson, Michael D. Briggs, Daniel H. Cohn, Deborah Krakow

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.49 MB

english, 2009

31

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara L. Funari, Carlos A. Bacino, Mira B. Irons, Ingrid A. Holm, Laurie Sadler, Ericka B. Okenfuss, Annelies Janssens, Thomas

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 757 KB

english, 2009

32

Response to Shaheen et al.

Yasemin Alanay, Deborah Krakow

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 29 KB

english, 2010

33

BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing

Vincent A. Funari, Deborah Krakow, Lisette Nevarez, Zugen Chen, Tara L. Funari, Nithiwat Vatanavicharn, William R. Wilcox, David L. Rimoin, Stanley F. Nelson, Daniel H. Cohn

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 399 KB

english, 2010

34

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

Hane Lee, John M. Graham Jr., David L. Rimoin, Ralph S. Lachman, Pavel Krejci, Stuart W. Tompson, Stanley F. Nelson, Deborah Krakow, Daniel H. Cohn

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 396 KB

english, 2012

35

Obstetrics and obstetrical anesthesia issues in women with DWARFISM

Julie Hoover-Fong, Gretchen Oswald, Dee Miller, Jennifer Leadroot, Hillary Barnes, Donald Penning, Ivor Berkowitz, Deborah Krakow, Judith Rossiter

Journal:

American Journal of Obstetrics and Gynecology

Year:

2006

Language:

english

File:

PDF, 119 KB

english, 2006

36

Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: A severe form of human achondroplasia

Changsheng Guo, Catherine R. Degnin, Melanie B. Laederich, Gregory P. Lunstrum, Paul Holden, Jeanie Bihlmaier, Deborah Krakow, Yoon-Jae Cho, William A. Horton

Journal:

Cellular Signalling

Year:

2008

Language:

english

File:

PDF, 2.17 MB

english, 2008

37

Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression

Vincent A Funari, Allen Day, Deborah Krakow, Zachary A Cohn, Zugen Chen, Stanley F Nelson, Daniel H Cohn

Journal:

Year:

2007

Language:

english

File:

PDF, 799 KB

english, 2007

38

Type XXVII collagen at the transition of cartilage to bone during skeletogenesis

Rebecca Hjorten, Uwe Hansen, Robert A. Underwood, Helena E. Telfer, Russell J. Fernandes, Deborah Krakow, Eiman Sebald, Sebastian Wachsmann-Hogiu, Peter Bruckner, Robin Jacquet, William J. Landis, Pet

Journal:

Year:

2007

Language:

english

File:

PDF, 2.05 MB

english, 2007

39

A transcriptional profile of human fetal cartilage

Robert Pogue, Eiman Sebald, Lily King, Erik Kronstadt, Deborah Krakow, Daniel H. Cohn

Journal:

Year:

2004

Language:

english

File:

PDF, 127 KB

english, 2004

40

Identification of human FEM1A, the ortholog of a C. elegans sex-differentiation gene

Deborah Krakow, Eiman Sebald, Lily M. King, Daniel H. Cohn

Journal:

Year:

2001

Language:

english

File:

PDF, 682 KB

english, 2001

41

Isolation of a new member of the ADP-ribosylation like factor gene family, ARL8, from a cartilage cDNA library

Eiman Sebald, Richard Krueger, Lily M. King, Daniel H. Cohn, Deborah Krakow

Journal:

Year:

2003

Language:

english

File:

PDF, 908 KB

english, 2003

42

Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias

Deborah Krakow, Eiman T Sebald, Robert Pogue, Lauren P Rimoin, Lily King, Daniel H Cohn

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 182 KB

english, 2003

43

Localization of a Multiple Synostoses–Syndrome Disease Gene to Chromosome 17q21-22

Deborah Krakow, Kent Reinker, Berkley Powell, Rita Cantor, Mary Ann Priore, Ann Garber, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 114 KB

english, 1998

44

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Alain Colige, Aleksander L. Sieron, Shi-Wu Li, Ulrike Schwarze, Elizabeth Petty, Wladimir Wertelecki, William Wilcox, Deborah Krakow, Daniel H. Cohn, W. Reardon, Peter H. Byers, Charles M. Lapière, Da

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 554 KB

english, 1999

45

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene

Daniel H. Cohn, Nadia Ehtesham, Deborah Krakow, Sheila Unger, Alan Shanske, Kent Reinker, Berkley R. Powell, David L. Rimoin

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 2.47 MB

english, 2003

46

Dysregulation of Chondrogenesis in Human Cleidocranial Dysplasia

Qiping Zheng, Eiman Sebald, Guang Zhou, Yuqing Chen, William Wilcox, Brendan Lee, Deborah Krakow

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 2.60 MB

english, 2005

47

GDF5 Is a Second Locus for Multiple-Synostosis Syndrome

Katherine Dawson, Petra Seeman, Eiman Sebald, Lily King, Matthew Edwards, John Williams III, Stephan Mundlos, Deborah Krakow

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 334 KB

english, 2006

48

Emery and Rimoin's Principles and Practice of Medical Genetics || The Dysostoses

Krakow, Deborah

Year:

2013

Language:

english

File:

PDF, 1.54 MB

english, 2013

49

Effect of hemodialysis on uterine and umbilical artery Doppler flow velocity waveforms

Krakow, Deborah, Castro, Lony C., Schwieger, Jeremy

Journal:

American Journal of Obstetrics and Gynecology

Year:

1994

Language:

english

File:

PDF, 261 KB

english, 1994

50

Routine measurement of amniotic fluid alpha-fetoprotein and acetylcholinesterase: the need for a reevaluation

Flick, Amy, Krakow, Deborah, Martirosian, Anahit, Silverman, Neil, Platt, Lawrence D.

Journal:

American Journal of Obstetrics and Gynecology

Year:

2014

Language:

english

File:

PDF, 432 KB

english, 2014

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