Deardorff, Matthew: search on Z-Library

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1

Xenopus frizzled-2 is expressed highly in the developing eye, otic vesicle and somites

Matthew A Deardorff, Peter S Klein

Journal:

Mechanisms of Development

Year:

1999

Language:

english

File:

PDF, 4.07 MB

english, 1999

2

Mitochondrial heteroplasmy and the influence of aging

Neal Sondheimer⁎, Catherine Glatz, Matthew A. Deardorff, Abba M. Krieger, Hakon Hakonarson

Journal:

Year:

2011

Language:

english

File:

PDF, 59 KB

english, 2011

3

Homozygosity for the V37I GJB 2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations

Gallant, Emily, Francey, Lauren, Tsai, Ellen A., Berman, Micah, Zhao, Yaru, Fetting, Heather, Kaur, Maninder, Deardorff, Matthew A., Wilkens, Alisha, Clark, Dinah, Hakonarson, Hakon, Rehm, Heidi L., K

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 219 KB

english, 2013

4

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.24 MB

english, 2015

5

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome

Jinglan Liu, Rachel Feldman, Zhe Zhang, Matthew A. Deardorff, Eden V. Haverfield, Maninder Kaur, Jennifer R. Li, Dinah Clark, Antonie D. Kline, Darrel J. Waggoner, Soma Das, Laird G. Jackson, Ian D. K

Journal:

Year:

2009

Language:

english

File:

PDF, 264 KB

english, 2009

6

Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome

Mariko Nakanishi, Matthew A. Deardorff, Dinah Clark, Susan E. Levy, Ian Krantz, Mary Pipan

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 165 KB

english, 2012

7

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases

Matthew A. Deardorff, Himabindu Gaddipati, Paige Kaplan, Pedro A. Sanchez-Lara, Neal Sondheimer, Nancy B. Spinner, Hakon Hakonarson, Can Ficicioglu, Jaya Ganesh, Thomas Markello, Brett Loechelt, Dina

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 413 KB

english, 2008

8

Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum

Li, Qiaoli, Brodsky, Jill L, Conlin, Laura K, Pawel, Bruce, Glatz, Andrew C, Gafni, Rachel I, Schurgers, Leon, Uitto, Jouni, Hakonarson, Hakon, Deardorff, Matthew A, Levine, Michael A

Journal:

The Journal of Investigative Dermatology

Year:

2014

Language:

english

File:

PDF, 1.58 MB

english, 2014

9

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

Gil-Rodríguez, María Concepción, Deardorff, Matthew A., Ansari, Morad, Tan, Christopher A., Parenti, Ilaria, Baquero-Montoya, Carolina, Ousager, Lilian B., Puisac, Beatriz, Hernández-Marcos, María, Te

Journal:

Year:

2015

Language:

english

File:

PDF, 935 KB

english, 2015

10

Fetal akinesia deformation sequence due to a congenital disorder of glycosylation

Ganetzky, Rebecca, Izumi, Kosuke, Edmondson, Andrew, Muraresku, Colleen Clarke, Zackai, Elaine, Deardorff, Matthew, Ganesh, Jaya

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.20 MB

english, 2015

11

Dr. Laird G. Jackson Festschrift

Noon, Sarah E., Deardorff, Matthew A., Krantz, Ian D.

Journal:

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

Year:

2016

Language:

english

File:

PDF, 541 KB

english, 2016

12

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

Baker, Samuel W, Duffy, Kelly A, Richards-Yutz, Jennifer, Deardorff, Matthew A, Kalish, Jennifer M, Ganguly, Arupa

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 571 KB

2020

13

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

Sarika Rohatgi, Dinah Clark, Antonie D. Kline, Laird G. Jackson, Juan Pie, Victoria Siu, Feliciano J. Ramos, Ian D. Krantz, Matthew A. Deardorff

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 452 KB

english, 2010

14

A highly enantioselective hydrolysis of cis-3,5-diacetoxycyclopent-1-ene. : An enzymatic preparation of 3(R)-acetoxy-5(S)-hydroxycyclopent-1-ene.

Donald R. Deardorff, A.J. Matthews, D.Scott McMeekin, Chris L. Craney

Journal:

Tetrahedron Letters

Year:

1986

Language:

english

File:

PDF, 133 KB

english, 1986

15

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome

Conlin, Laura K., Kaur, Maninder, Izumi, Kosuke, Campbell, Lindsey, Wilkens, Alisha, Clark, Dinah, Deardorff, Matthew A., Zackai, Elaine H., Pallister, Phillip, Hakonarson, Hakon, Spinner, Nancy B., K

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 2.34 MB

english, 2012

16

7. Homozygosity mapping in Mabry syndrome: A syndrome with hyperphosphatasia with seizures, neurologic deficit and characteristic facial features

Miles D. Thompson, Marjan M. Nezarati, Charleton C. Mabry, Matthew A. Deardorff, Gabriele Gillessen-Kaesbach, Peter Meinecke, Catherine Prost Squarcioni, Laurence Legeai-Mallet, Arnold Munnich, Kathy

Journal:

Clinical Neurophysiology

Year:

2009

Language:

english

File:

PDF, 45 KB

english, 2009

17

Emery and Rimoin's Principles and Practice of Medical Genetics || Pathways—Cohesinopathies

Deardorff, Matthew A.

Year:

2013

Language:

english

File:

PDF, 1.43 MB

english, 2013

18

KCNK9 imprinting syndrome-further delineation of a possible treatable disorder

Graham, John M., Zadeh, Neda, Kelley, Melissa, Tan, Ee Shien, Liew, Wendy, Tan, Victoria, Deardorff, Matthew A., Wilson, Golder N., Sagi-Dain, Lena, Shalev, Stavit A.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.00 MB

english, 2016

19

Cover Image, Volume 172C, Number 2, June 2016

Noon, Sarah E., Deardorff, Matthew A., Krantz, Ian D.

Journal:

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

Year:

2016

File:

PDF, 600 KB

2016

20

Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit

Ahrens-Nicklas, Rebecca C., Khan, Shama, Garbarini, Jennifer, Woyciechowski, Stacy, D'Alessandro, Lisa, Zackai, Elaine H., Deardorff, Matthew A., Goldmuntz, Elizabeth

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 846 KB

english, 2016

21

A Centralized Approach for Practicing Genomic Medicine

Biswas, Sawona, Medne, Livija, Devkota, Batsal, Bedoukian, Emma, Berrodin, Donna, Izumi, Kosuke, Deardorff, Matthew A., Tarpinian, Jennifer, Leonard, Jacqueline, Pyle, Loiusa, Gray, Christopher, Montg

Journal:

Year:

2020

File:

PDF, 1.34 MB

2020

22

Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion

Matthew A. Deardorff, Melissa Maisenbacher, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 63 KB

english, 2004

23

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

Dinah M. Clark, Ilana Sherer, Matthew A. Deardorff, Janice L.B. Byrne, Kathleen M. Loomes, Malgorzata J.M. Nowaczyk, Laird G. Jackson, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 351 KB

english, 2012

24

Regulation of Glycogen Synthase Kinase 3β and Downstream Wnt Signaling by Axin

Hedgepeth, Chester M., Deardorff, Matthew A., Rankin, Kathleen, Klein, Peter S.

Journal:

Molecular and Cellular Biology

Year:

1999

Language:

english

File:

PDF, 1.60 MB

english, 1999

25

Cover Image, Volume 173A, Number 7, July 2017

Kalish, Jennifer M., Biesecker, Leslie G., Brioude, Frederic, Deardorff, Matthew A., Di Cesare-Merlone, Alessandra, Druley, Todd, Ferrero, Giovanni B., Lapunzina, Pablo, Larizza, Lidia, Maas, Saskia,

Journal:

American Journal of Medical Genetics Part A

Year:

2017

File:

PDF, 1.07 MB

2017

26

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

Suzuki, Yoshiro, Chitayat, David, Sawada, Hirotake, Deardorff, Matthew A., McLaughlin, Heather M., Begtrup, Amber, Millar, Kathryn, Harrington, Jennifer, Chong, Karen, Roifman, Maian, Grand, Katheryn,

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.58 MB

english, 2018

27

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Güleç, Elif Yýlmaz, Gezdirici, Alper, Nöthe-Menchen, Tabea, Höben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johan

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.88 MB

english, 2018

28

Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion

Matthew A Deardorff, Jesus Sainz, Struan FA Grant

Journal:

Year:

2011

Language:

english

File:

PDF, 204 KB

english, 2011

29

Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses

January, Kathleen, Conway, Laura J., Deardorff, Matthew, Harrington, Ann, Krantz, Ian D., Loomes, Kathleen, Pipan, Mary, Noon, Sarah E.

Journal:

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

Year:

2016

Language:

english

File:

PDF, 177 KB

english, 2016

30

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing

Bhoj, Elizabeth J., Yu, Zhenming, Guan, Qiaoning, Ahrens-Nicklas, Rebecca, Cao, Kajia, Luo, Minjie, Tischler, Tanya, Deardorff, Matthew A., Zackai, Elaine, Santani, Avni B.

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 693 KB

english, 2016

31

ChemInform Abstract: A Highly Enantioselective Hydrolysis of cis-3,5-Diacetoxycyclopent-1- ene.

DEARDORFF, D. R., MATTHEWS, A. J., MCMEEKIN, D. S., CRANEY, C. L.

Journal:

Chemischer Informationsdienst

Year:

1986

File:

PDF, 92 KB

1986

32

RAD21 Mutations Cause a Human Cohesinopathy

Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht, Emma Dickinson, Stephanie Tennstedt, Diana Braunholz, Maren Mönnich, Yuqian Yan, Weizhen Xu, María Concepcion Gil-Rodríguez, Dinah Clark, Hak

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.06 MB

english, 2012

33

Synthesis of 2-acetylbicyclo[2.2.1]hept-2-ene

Cornelius, Lyndon A. M., Bone, Richard G. A., Hastings, Riley H., Deardorff, Matthew A., Scharlach, Randall A., Hauptmann, Brett E., Stankovic, Charles S., Pinnick, Harold W.

Journal:

Journal of Organic Chemistry

Year:

1993

Language:

english

File:

PDF, 408 KB

english, 1993

34

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome

Murray, Brittney, Wagle, Rohan, Amat-Alarcon, Nuria, Wilkens, Alisha, Stephens, Paul, Zackai, Elaine H., Goldmuntz, Elizabeth, Calkins, Hugh, Deardorff, Matthew A., Judge, Daniel P.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 238 KB

english, 2013

35

Synthesis of 2-acetylbicyclo[2.2.1]hept-2-ene. [Erratum to document cited in CA119(3):27738j]

Cornelius, Lyndon A. M., Bone, Richard G. A., Hastings, Riley H., Deardorff, Matthew A., Scharlach, Randall A., Hauptmann, Brett E., Stankovic, Charles J., Pinnick, Harold W.

Journal:

Journal of Organic Chemistry

Year:

1993

Language:

english

File:

PDF, 78 KB

english, 1993

36

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

Pehlivan, Davut, Hullings, Melanie, Carvalho, Claudia M.B., Gonzaga-Jauregui, Claudia G., Loy, Elizabeth, Jackson, Laird G., Krantz, Ian D., Deardorff, Matthew A., Lupski, James R.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 1.47 MB

english, 2012

37

Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?

Kalish, Jennifer M., Deardorff, Matthew A.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 76 KB

english, 2016

38

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Kline, Antonie D., Moss, Joanna F., Selicorni, Angelo, Bisgaard, Anne-Marie, Deardorff, Matthew A., Gillett, Peter M., Ishman, Stacey L., Kerr, Lynne M., Levin, Alex V., Mulder, Paul A., Ramos, Felici

Journal:

Nature Reviews Genetics

Year:

2018

Language:

english

File:

PDF, 2.01 MB

english, 2018

39

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016

Kline, Antonie D., Krantz, Ian D., Deardorff, Matthew A., Shirahige, Katsuhiko, Dorsett, Dale, Gerton, Jennifer L., Wu, Meng, Mehta, Devanshi, Mills, Jason A., Carrico, Cheri S., Noon, Sarah, Herrera,

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 203 KB

english, 2017

40

Response to: Toriello et al., “Update on the Toriello-Carey Syndrome.” Further delineation of a young woman with deletion 1q42.12-q42.2

Garza-Flores, Alexandra, Hawley, Pamela, Picker, Jonathan, Tannebring, Elizabeth, Deardorff, Matthew A., Lin, Angela E.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 643 KB

english, 2017

41

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

Elke M. Botzenhart, Gabriella Bartalini, Edward Blair, Angela F. Brady, Frances Elmslie, Karen L. Chong, Katie Christy, Wilfredo Torres-Martinez, Cesare Danesino, Matthew A. Deardorff, Jean-Pierre Fry

Journal:

Year:

2007

Language:

english

File:

PDF, 161 KB

english, 2007

42

The value of the metabolic autopsy in the pediatric hospital setting

Linda M. Ernst, Neal Sondheimer, Matthew A. Deardorff, Michael J. Bennett, Bruce R. Pawel

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 163 KB

english, 2006

43

PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders

Tsai, Ellen A., Berman, Micah A., Conlin, Laura K., Rehm, Heidi L., Francey, Lauren J., Deardorff, Matthew A., Holst, Jenelle, Kaur, Maninder, Gallant, Emily, Clark, Dinah M., Glessner, Joseph T., Jen

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.81 MB

english, 2013

44

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

Juan Pié, María Concepción Gil-Rodríguez, Milagros Ciero, Eduardo López-Viñas, María Pilar Ribate, María Arnedo, Matthew A. Deardorff, Beatriz Puisac, Jesús Legarreta, Juan Carlos de Karam, Encarnació

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 198 KB

english, 2010

45

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: Utility of genome-wide SNP array

Izumi, Kosuke, Santani, Avni B., Deardorff, Matthew A., Feret, Holly A., Tischler, Tanya, Thiel, Brian D., Mulchandani, Surabhi, Stolle, Catherine A., Spinner, Nancy B., Zackai, Elaine H., Conlin, Lau

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 242 KB

english, 2013

46

Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR

Fujiki, Katsunori, Shirahige, Katsuhiko, Kaur, Maninder, Deardorff, Matthew A., Conlin, Laura K., Krantz, Ian D., Izumi, Kosuke

Journal:

Molecular Genetics & Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 675 KB

english, 2016

47

Phenotypes and genotypes in individuals with SMC1A variants

Huisman, Sylvia, Mulder, Paul A., Redeker, Egbert, Bader, Ingrid, Bisgaard, Anne-Marie, Brooks, Alice, Cereda, Anna, Cinca, Constanza, Clark, Dinah, Cormier-Daire, Valerie, Deardorff, Matthew A., Dide

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 903 KB

english, 2017

48

Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA

Davis, Shanlee, Ware, Meredith A., Zeiger, Jordan, Deardorff, Matthew A., Grand, Katheryn, Grimberg, Adda, Hsu, Stephanie, Kelsey, Megan, Majidi, Shideh, Matthew, Revi P., Napier, Melanie, Nokoff, Nat

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.27 MB

english, 2019

49

NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus

Ritter, Alyssa, Werner, Petra, Latney, Brande, Krock, Bryon L., Santani, Avni, Bedoukian, Emma, Skraban, Cara M., Deardorff, Matthew A., Goldmuntz, Elizabeth

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.63 MB

2020

50

Detailed assessment of the ear in Cornelia de Lange syndrome: Comparison with a control sample using the new dysmorphology guidelines

Alasdair G.W. Hunter, Julianne S. Collins, Matthew A. Deardorff, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 257 KB

english, 2009

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