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1

Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature

Stephen Brown, Steven Gersen, Kwame Anyane-Yeboa, Dr. Dorothy Warburton

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 1.52 MB

english, 1993

2

10.1038/71743

Lupski, James R., Potocki, Lorraine, Chen, Ken-Shiung, Park, Sung-Sup, Osterholm, Doreen E., Withers, Marjorie A., Kimonis, Virginia, Summers, Anne M., Meschino, Wendy S., Anyane-Yeboa, Kwame, Kashork

Journal:

Nature Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 284 KB

english, 2000

3

Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

Agarwal, Niti Sardana, Northrop, Lesley, Anyane-Yeboa, Kwame, Aggarwal, Vimla S., Nagy, Peter L., Demirdag, Yesim Yilmaz

Journal:

Journal of Clinical Immunology

Année:

2014

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2014

4

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Case Report and Review of Prenatal Ultrasonographic Findings

Tuzovic, Lea, Anyane-Yeboa, Kwame, Mills, Ashley, Glassberg, Kenneth, Miller, Russell

Journal:

Fetal Diagnosis and Therapy

Année:

2014

Langue:

english

Fichier:

PDF, 637 KB

english, 2014

5

Incidence of Aortic Root Dilatation in Pectus Excavatum and Its Association With Marfan Syndrome

Rhee, Diane, Solowiejczyk, David, Altmann, Karen, Prakash, Ashwin, Gersony, Welton M., Stolar, Charles, Kleinman, Charles, Anyane-Yeboa, Kwame, Chung, Wendy K., Hsu, Daphne

Journal:

Archives of Pediatrics and Adolescent Medicine

Année:

2008

Langue:

english

Fichier:

PDF, 113 KB

english, 2008

6

Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases

Dr. Dorothy Warburton, Kwame Anyane-Yeboa, Uta Francke, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1987

Langue:

english

Fichier:

PDF, 851 KB

english, 1987

7

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

Kathleen Harrison, Katerina Eisenger, Kwame Anyane-Yeboa, Dr. Stephen Brown

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 521 KB

english, 1995

8

Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling

Vaidehi Jobanputra, Erin Ash, Kwame Anyane-Yeboa, Dorothy Warburton, Brynn Levy

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 193 KB

english, 2009

9

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH

Sibel Kantarci, Kate G. Ackerman, Meaghan K. Russell, Mauro Longoni, Carrie Sougnez, Kristin M. Noonan, Eli Hatchwell, Xiaoyun Zhang, Rafael Pieretti Vanmarcke, Kwame Anyane-Yeboa, Paul Dickman, Jay W

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 566 KB

english, 2010

10

The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

Edina Torgyekes, Alan L. Shanske, Kwame Anyane-Yeboa, Odelia Nahum, Sara Pirzadeh, Einat Blumfield, Vaidehi Jobanputra, Dorothy Warburton, Brynn Levy

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2011

11

Duplication of the ZIC2 gene is not associated with holoprosencephaly

Vaidehi Jobanputra, Alanna Burke, Anyane-Yeboa Kwame, Anita Shanmugham, Maryam Shirazi, Stephen Brown, Peter E. Warburton, Brynn Levy, Dorothy Warburton

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 209 KB

english, 2012

12

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita

Yao-Hua Zhang, Bing-Ling Huang, Kwame Anyane-Yeboa, Julienne A.R. Carvalho, Robert D. Clemons, Trevor Cole, Bonald C. De Figueiredo, Mark Lubinsky, Daniel L. Metzger, Roberto Quadrelli, David R. Repas

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 28 KB

english, 2001

13

Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene

Chester B. Whitley, Rose Ann Anderson, Elena L. Aronovich, Paul L. Crotty, Kwame Anyane-Yeboa, Donna Russo, Dorothy Warburton

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 259 KB

english, 1993

14

Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa

Peter B. Cserhalmi-Friedman, Kwame Anyane-Yeboa, Angela M. Christiano

Journal:

Experimental Dermatology

Année:

2002

Langue:

english

Fichier:

PDF, 69 KB

english, 2002

15

Maternal Germline Mosaicism in Dominant Dystrophic Epidermolysis Bullosa

Cserhalmi-Friedman, Peter B., Garzon, Maria C., Guzman, Edwin, Martinez-Mir, Amalia, Chung, Wendy K., Anyane-Yeboa, Kwame, Christiano, Angela M.

Journal:

The Journal of Investigative Dermatology

Année:

2001

Langue:

english

Fichier:

PDF, 64 KB

english, 2001

16

Lumbar gibbus in storage diseases and bone dysplasias

Terry L. Levin, W. E. Berdon, Ralph S. Lachman, Kwame Anyane-Yeboa, Carrie Ruzal-Shapiro, David P. Roye Jr.

Journal:

Pediatric Radiology

Année:

1997

Langue:

english

Fichier:

PDF, 644 KB

english, 1997

17

Cutis Verticis Gyrata in a Patient with Noonan Syndrome

Lindy Peta Fox, Adam S. Geyer, Kwame Anyane-Yeboa, Maria C. Garzon

Journal:

Pediatric Dermatology

Année:

2005

Langue:

english

Fichier:

PDF, 111 KB

english, 2005

18

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

Roberto Fernandez-Hojas, Maryann L. Huie, Carmen Navarro, Carmen Dominguez, Manuel Roig, Diana Lopez-Coronas, Susana Teijeira, Kwame Anyane-Yeboa, Rochelle Hirschhorn

Journal:

Neuromuscular Disorders

Année:

2002

Langue:

english

Fichier:

PDF, 287 KB

english, 2002

19

DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

Yao-Hua Zhang, Weiwen Guo, Richard L. Wagner, Bing-Ling Huang, Linda McCabe, Eric Vilain, Thomas P. Burris, Kwame Anyane-Yeboa, Arthur H.M. Burghes, David Chitayat, Albert E. Chudley, Myron Genel, Jos

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 404 KB

english, 1998

20

Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy

John M. Graham Jr, Kwame Anyane-Yeboa, Anja Raams, Esther Appeldoorn, Wim J. Kleijer, Victor H. Garritsen, David Busch, Terri G. Edersheim, Nicolaas G.J. Jaspers

Journal:

The American Journal of Human Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 516 KB

english, 2001

21

Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletion (IVS7–19 to IVS15–17) in a Patient with Glycogen Storage Disease Type II

Maryann L. Huie, Kwame Anyane-Yeboa, Edwin Guzman, Rochelle Hirschhorn

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 238 KB

english, 2002

22

Coding Mutations in p57KIP2 Are Present in Some Cases of Beckwith-Wiedemann Syndrome but Are Rare or Absent in Wilms Tumors

Denise O'Keefe, Diem Dao, Long Zhao, Rhonda Sanderson, Dorothy Warburton, Lawrence Weiss, Kwame Anyane-Yeboa, Benjamin Tycko

Journal:

The American Journal of Human Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 1.09 MB

english, 1997

23

Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report

Marisa Censani, Kwame Anyane-Yeboa…

Journal:

International Journal of Pediatric Endocrinology

Année:

2013

Langue:

english

Fichier:

PDF, 525 KB

english, 2013

24

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

Warburton, Dorothy, Ronemus, Michael, Kline, Jennie, Jobanputra, Vaidehi, Williams, Ismee, Anyane-Yeboa, Kwame, Chung, Wendy, Yu, Lan, Wong, Nancy, Awad, Danielle, Yu, Chih-yu, Leotta, Anthony, Kendal

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 318 KB

english, 2014

25

Molecular diagnostic dilemmas in Rett syndrome

Zvereff, Val, Carpenter, Lori, Patton, Dagny, Cabral, Huong, Rita, Debra, Wilson, Ashley, Anyane-Yeboa, Kwame, White, Larry, Friedman, Kenneth J.

Journal:

Brain and Development

Année:

2012

Langue:

english

Fichier:

PDF, 126 KB

english, 2012

26

The usefulness of whole-exome sequencing in routine clinical practice

Iglesias, Alejandro, Anyane-Yeboa, Kwame, Wynn, Julia, Wilson, Ashley, Truitt Cho, Megan, Guzman, Edwin, Sisson, Rebecca, Egan, Claire, Chung, Wendy K.

Journal:

Genetics in Medicine

Année:

2014

Langue:

english

Fichier:

PDF, 408 KB

english, 2014

27

Clinical Spectrum of Capillary Malformation-Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study

Weitz, Nicole A., Lauren, Christine T., Behr, Gerald G., Wu, June K., Kandel, Jessica J., Meyers, Philip M., Sultan, Sally, Anyane-Yeboa, Kwame, Morel, Kimberly D., Garzon, Maria C.

Journal:

Pediatric Dermatology

Année:

2015

Langue:

english

Fichier:

PDF, 390 KB

english, 2015

28

NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22Q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS

Sobin, Christina, Kiley-Brabeck, Karen, Daniels, Sarah, Khuri, Jananne, Taylor, Lisa, Blundell, Maude, Anyane-Yeboa, Kwame, Karayiorgou, Maria

Journal:

Child Neuropsychology

Année:

2005

Langue:

english

Fichier:

PDF, 137 KB

english, 2005

29

A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis

Lubell, Tamar, Garzon, Maria, Anyane-Yeboa, Kwame, Shah, Bina

Journal:

Journal of Clinical Research in Pediatric Endocrinology

Année:

2009

Langue:

english

Fichier:

PDF, 104 KB

english, 2009

30

Networks of Attention in Children With the 22q11 Deletion Syndrome

Sobin, Christina, Kiley-Brabeck, Karen, Daniels, Sarah, Blundell, Maude, Anyane-Yeboa, Kwame, Karayiorgou, Maria

Journal:

Developmental Neuropsychology

Année:

2004

Langue:

english

Fichier:

PDF, 110 KB

english, 2004

31

Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

DeStefano, Gina M., Kurban, Mazen, Anyane-Yeboa, Kwame, Dall'Armi, Claudia, Di Paolo, Gilbert, Feenstra, Heather, Silverberg, Nanette, Rohena, Luis, López-Cepeda, Larissa D., Jobanputra, Vaidehi, Fant

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 6.78 MB

english, 2014

32

First-Trimester Transvaginal Ultrasonographic Diagnosis of Dandy-Walker Malformation

Sherer, David M., Shane, Heather, Anyane-Yeboa, Kwame

Journal:

American Journal of Perinatology

Année:

2001

Langue:

english

Fichier:

PDF, 101 KB

english, 2001

33

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase

Sparling, David P., Fabian, Kendra, Harik, Lara, Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Oberfield, Sharon E., Fennoy, Ilene

Journal:

Journal of Pediatric Endocrinology and Metabolism

Année:

2016

Langue:

english

Fichier:

PDF, 400 KB

english, 2016

34

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emil

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 510 KB

english, 2016

35

FTO variant associated with malformation syndrome

Rohena, Luis, Lawson, Michelle, Guzman, Edwin, Ganapathi, Mythily, Cho, Megan T., Haverfield, Eden, Anyane-Yeboa, Kwame

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 263 KB

english, 2016

36

Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

Dangiolo, Silvana Beatriz, Wilson, Ashley, Jobanputra, Vaidehi, Anyane-Yeboa, Kwame

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 228 KB

english, 2015

37

De novo mutations in PURA are associated with hypotonia and developmental delay

Tanaka, Akemi J., Bai, Renkui, Cho, Megan T., Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L., Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juus

Journal:

Molecular Case Studies

Année:

2015

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2015

38

New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation

Roohi, Jasmin, Crowe, Jennifer, Loredan, Denis, Anyane-Yeboa, Kwame, Mansukhani, Mahesh M, Omesi, Lenore, Levine, Jennifer, Revah Politi, Anya, Zha, Shan

Journal:

Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 184 KB

english, 2017

39

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation

Glasser, Chana L., Picoraro, Joseph A., Jain, Preti, Kinberg, Sivan, Rustia, Evelyn, Gross Margolis, Kara, Anyane-Yeboa, Kwame, Iglesias, Alejandro D., Green, Nancy S.

Journal:

Journal of Pediatric Hematology/Oncology

Année:

2016

Langue:

english

Fichier:

PDF, 202 KB

english, 2016

40

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

Jobanputra, Vaidehi, Sebat, Jonathan, Troge, Jennifer, Chung, Wendy, Anyane-Yeboa, Kwame, Wigler, Michael, Warburton, Dorothy

Journal:

Genetics in Medicine

Année:

2005

Langue:

english

Fichier:

PDF, 1.72 MB

english, 2005

41

Pediatric Secrets || Genetics

Anyane-Yeboa, Kwame

Année:

2011

Langue:

english

Fichier:

PDF, 445 KB

english, 2011

42

Phylloid terminal hair nevus: A unique clinical entity

Kittler, Nicole W., Antonov, Nina K., Scripps, Tessa B., Anyane-Yeboa, Kwame, Garzon, Maria C., Lauren, Christine T.

Journal:

Pediatric Dermatology

Année:

2018

Langue:

english

Fichier:

PDF, 513 KB

english, 2018

43

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities

Rodan, Lance H., Anyane-Yeboa, Kwame, Chong, Karen, Klein Wassink-Ruiter, Jolien S., Wilson, Ashley, Smith, Lacey, Kothare, Sanjeev V., Rajabi, Farrah, Blaser, Susan, Ni, Min, DeBerardinis, Ralph J.,

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 2.00 MB

english, 2018

44

CCR4-NOT transcription complex, subunit 1 (CNOT1) Variant Associated with Holoprosencephaly

Kruszka, Paul, Berger, Seth I., Weiss, Karin, Everson, Joshua L., Martinez, Ariel F., Hong, Sungkook, Anyane-Yeboa, Kwame, Lipinski, Robert J., Muenke, Maximilian

Journal:

The American Journal of Human Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 543 KB

english, 2019

45

Homozygous non-canonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delays

Okur, Volkan, LeDuc, Charles A., Guzman, Edwin, Valivullah, Zaheer M., Anyane-Yeboa, Kwame, Chung, Wendy K.

Journal:

Molecular Case Studies

Année:

2019

Langue:

english

Fichier:

PDF, 585 KB

english, 2019

46

Homozygous non-canonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delays

Okur, Volkan, LeDuc, Charles A., Guzman, Edwin, Valivullah, Zaheer M., Anyane-Yeboa, Kwame, Chung, Wendy K.

Journal:

Molecular Case Studies

Année:

2019

Fichier:

PDF, 585 KB

2019

47

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother

Wise-Oringer, Brittany K, Zanazzi, George J, Gordon, Rebecca J, Wardlaw, Sharon L, William, Christopher, Anyane-Yeboa, Kwame, Chung, Wendy K, Kohn, Brenda, Wisoff, Jeffrey H, David, Raphael, Oberfield

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2019

Langue:

english

Fichier:

PDF, 1.56 MB

english, 2019