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1

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)

Richard A. Spritz, Jangsuk Oh, Kazuyoshi Fukai, Stuart A. Holmes, Lingling Ho, David Chitayat, Thomas D. France, Maria A. Musarella, Seth J. Orlow, Rhonda E. Schnur, Richard G. Weleber, Alex V. Levin

Journal:

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

2

Ocular albinism in a male with del (6)(q13–q15): Candidate region for autosomal recessive ocular albinism?

Nancy C. Rose, Sheryl J. Menacker, Rhonda E. Schnur, Laird Jackson, Donna M. McDonald-McGinn, Tammy Stump, Beverly S. Emanuel, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 592 KB

english, 1992

3

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant

Yeetong, Patra, Vilboux, Thierry, Ciccone, Carla, Boulier, Kristin, Schnur, Rhonda E., Gahl, William A., Huizing, Marjan, Laje, Gonzalo, Smith, Ann C. M.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 335 KB

english, 2016

4

Circumferential ringed creases (“Michelin tire babies”) with specific histologic findings and/or karyotype abnormalities: Clues to molecular pathogenesis?

Schnur, Rhonda E., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 68 KB

english, 1997

5

Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome

Schnur, Rhonda E., Greenbaum, Barbara H., Heymann, Warren R., Christensen, Katherine, Buck, Andrea S., Reid, Cheryl S.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 143 KB

english, 1997

6

Thrombocytopenia with absent radius in a boy and his uncle

Dr. Rhonda E. Schnur, Deborah L. Eunpu, Elaine H. Zackai, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 411 KB

english, 1987

7

Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities

Dr. Julie A. Neidich, Linton A. Whitaker, Marvin Natowicz, Donna M. McDonald, Rhonda Schnur, Elaine H. Zackai, John M. Opitz, James F. Reynolds, Robert J. Gorlin

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 375 KB

english, 1988

8

Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy

Karen W. Gripp, Ranita Kuryan, Rhonda E. Schnur, Murtuza Kothawala, Lauren R. Davey, Michael J. Antunes, Kirk W. Reichard, Adele Schneider, Bryan D. Hall

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 788 KB

english, 2011

9

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Joan E. Pellegrino, Rhonda E. Schnur, Rochelle Kline, Elaine H. Zackai, Nancy B. Spinner

Journal:

Year:

1995

Language:

english

File:

PDF, 1.79 MB

english, 1995

10

Type I Oculocutaneous Albinism Associated with a Full-Length Deletion of the Tyrosinase Gene.

Schnur, Rhonda E., Sellinger, Beatrice T., Holmes, Stuart A., Wick, Penelope A., Tatsumura, Yvonne O., Spritz, Richard A.

Journal:

The Journal of Investigative Dermatology

Year:

1996

File:

PDF, 1.27 MB

1996

11

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

Fukai, Kazuyoshi, Holmes, Stuart A., Lucchese, Neil J., Mok Siu, Victoria, Weleber, Richard G., Schnur, Rhonda E., Spritz, Richard A.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 478 KB

1995

12

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

Bobby G. Ng, Karl Hackmann, Melanie A. Jones, Alexey M. Eroshkin, Ping He, Roy Wiliams, Shruti Bhide, Vincent Cantagrel, Joseph G. Gleeson, Amy S. Paller, Rhonda E. Schnur, Sigrid Tinschert, Janice Zu

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 215 KB

english, 2012

13

Buschke-Ollendorff Syndrome, Otosclerosis, and Congenital Spinal Stenosis

Rhonda E. Schnur, Kimberly Grace, Arlene Herzberg

Journal:

Pediatric Dermatology

Year:

1994

Language:

english

File:

PDF, 576 KB

english, 1994

14

Deletion Mapping and a Highly Reduced Radiation Hybrid in the Xp22.3-p22.2 Region

Rhonda E. Schnur, Penelope A. Wick, Donna N. Sosnoski, David Bick, Robert L. Nussbaum

Journal:

Year:

1993

File:

PDF, 538 KB

1993

15

Ectodermal, Skeletal, and Genitourinary Abnormalities With Neonatal Hyperekplexia

Gary N. McAbee, Anne Marie Santilli, Jennifer Stone, Rhonda E. Schnur

Journal:

Pediatric Neurology

Year:

2011

Language:

english

File:

PDF, 365 KB

english, 2011

16

OA1 Mutations and Deletions in X-Linked Ocular Albinism

Rhonda E. Schnur, Mei Gao, Penelope A. Wick, Margaret Keller, Paul J. Benke, Matthew J. Edwards, Arthur W. Grix, Athel Hockey, Jack H. Jung, Kenneth K. Kidd, Mildred Kistenmacher, Alex V. Levin, Richa

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 234 KB

english, 1998

17

Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q

Joan E. Pellegrino,Rhonda E. Schnur,Leslie Boghosian-Sell…

Journal:

Year:

1996

Language:

english

File:

PDF, 174 KB

english, 1996

18

Reticulate hyperpigmentation

Rhonda E. Schnur, Warren R. Heymann

Journal:

Seminars in Cutaneous Medicine and Surgery

Year:

1997

Language:

english

File:

PDF, 795 KB

english, 1997

19

Epimerase-Deficiency Galactosemia Is Not a Binary Condition

Kimberly K. Openo, Jenny M. Schulz, Claudia A. Vargas, Corey S. Orton, Michael P. Epstein, Rhonda E. Schnur, Fernando Scaglia, Gerard T. Berry, Gary S. Gottesman, Can Ficicioglu, Alfred E. Slonim, Ric

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 530 KB

english, 2006

20

Variability in the Michelin tire syndrome

Schnur, Rhonda E., Herzberg, Arlene J., Spinner, Nancy, Kant, Jeffrey A., Magnusson, Mark, McDonald-McGinn, Donna, Rehberg, Kimberly, Honig, Paul J., Zackai, Elaine H.

Journal:

Journal of the American Academy of Dermatology

Year:

1993

Language:

english

File:

PDF, 3.70 MB

english, 1993

21

Linkage analysis in X-linked ocular albinism

Schnur, Rhonda E., Nussbaum, Robert L., Anson-Cartwright, Lynn, McDowell, Cathy, Worton, Ronald G., Musarella, Maria A.

Journal:

Year:

1991

Language:

english

File:

PDF, 878 KB

english, 1991

22

Partial deletions of a sequence family (“DXS278”) and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis

Schnur, Rhonda E., Knowlton, Robert G., Musarella, Maria A., Muenke, Maximilian, Nussbaum, Robert L.

Journal:

Year:

1990

Language:

english

File:

PDF, 2.23 MB

english, 1990

23

Type I neurofibromatosis

Schnur, Rhonda E.

Journal:

Current Opinion in Ophthalmology

Year:

2012

Language:

english

File:

PDF, 398 KB

english, 2012

24

Tuberous Sclerosis

Schnur, Rhonda E.

Journal:

Archives of Dermatology

Year:

1995

Language:

english

File:

PDF, 384 KB

english, 1995

25

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Fregeau, Brieana, Kim, Bum Jun, Hernández-García, Andrés, Jordan, Valerie K., Cho, Megan T., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rosenfeld, Jill A., Bhoj, Elizabeth, Zackai, Elaine

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 818 KB

english, 2016

26

Neuropathological Findings in Eight Children with Cerebro-oculo-facio-skeletal (COFS) Syndrome

DEL BIGIO, MARC R., GREENBERG, CHERYL R., RORKE, LUCY B., SCHNUR, RHONDA, McDONALD-McGINN, DONNA M., ZACKAI, ELAINE H.

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

1997

File:

PDF, 936 KB

1997

27

Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome

Ming, Jeffrey E., Katowitz, James, McDonald-McGinn, Donna M., Schnur, Rhonda E., Hunter, Jill V., Zackai, Elaine H.

Journal:

Clinical Dysmorphology

Year:

1998

File:

PDF, 395 KB

1998

28

Genodermatoses 2003-2004

Schnur, Rhonda E

Journal:

Current Opinion in Pediatrics

Year:

2004

Language:

english

File:

PDF, 334 KB

english, 2004

29

Two Novel TP63 Mutations Associated With the Ankyloblepharon, Ectodermal Defects, and Cleft Lip and Palate Syndrome

Payne, Aimee S., Yan, Albert C., Ilyas, Erum, Li, Weijie, Seykora, John T., Young, Terri L., Pawel, Bruce R., Honig, Paul J., Camacho, Jeanette, Imaizumi, Sonia, Heymann, Warren R., Schnur, Rhonda E.

Journal:

Archives of Dermatology

Year:

2005

Language:

english

File:

PDF, 557 KB

english, 2005

30

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kühn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amb

Journal:

Nature Communications

Year:

2017

Language:

english

File:

PDF, 2.02 MB

english, 2017

31

Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants

Ferreira, Laura D., Borges‐Medeiros, Rayssa L., Thies, Jenny, Schnur, Rhonda E., Lam, Christina, Oliveira, João R. M.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 860 KB

english, 2019

32

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Singh, Sakshi, Gupta, Aditi, Zech, Michael, Sigafoos, Ashley N., Clark, Karl J., Dincer, Yasemin, Wagner, Matias, Humberson, Jennifer B., Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 500 KB

2020

33

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

Snijders Blok, Lot, Vino, Arianna, den Hoed, Joery, Underhill, Hunter R., Monteil, Danielle, Li, Hong, Reynoso Santos, Francis Jeshira, Chung, Wendy K., Amaral, Michelle D., Schnur, Rhonda E., Santiag

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 1.10 MB

2020