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1

Pulmonary Manifestations of Genetic Disorders in Children

Pletcher, Beth A., Turcios, Nelson L.

Journal:

Pediatric Clinics of North America

Année:

2021

Fichier:

PDF, 329 KB

2021

2

Osteogenesis imperfecta with joint contractures: Bruck syndrome

M. F. Blacksin, Beth A. Pletcher, Miriam David

Journal:

Pediatric Radiology

Année:

1998

Langue:

english

Fichier:

PDF, 454 KB

english, 1998

3

Pulmonary Complications of Genetic Disorders

Beth A. Pletcher, Nelson L. Turcios

Journal:

Paediatric Respiratory Reviews

Année:

2012

Langue:

english

Fichier:

PDF, 139 KB

english, 2012

4

Diffuse Peritoneal Chlamydial Infection Presenting as Possible Ovarian Peritoneal Carcinomatosis in an Adolescent Female

Sheetal D. Sran, Allison S. Mautone, Anton M. Kolomeyer, Bernadette M. Cracchiolo, Debra S. Heller, Beth A. Pletcher

Journal:

Journal of Adolescent Health

Année:

2012

Langue:

english

Fichier:

PDF, 473 KB

english, 2012

5

Beyond circles and squares: A commentary on updating pedigree nomenclature to better represent patient diversity

Tuite, Allysa, Dalla Piazza, Michelle, Brandi, Kristyn, Pletcher, Beth A.

Journal:

Journal of Genetic Counseling

Année:

2020

Langue:

english

Fichier:

PDF, 623 KB

english, 2020

6

46, XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation

Kunitomo, Mia, Khokhar, Aditi, Kresge, Christina, EdoborâOsula, Folorunsho, Pletcher, Beth A.

Journal:

American Journal of Medical Genetics Part A

Année:

2020

Fichier:

PDF, 869 KB

2020

7

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families

Goodman, Barbara K., Shaffer, Lisa G., Rutberg, Julie, Leppert, Mary, Harum, Karen, Gagos, Sarantis, Ray, James H., Bialer, Martin G., Zhou, Xianting, Pletcher, Beth A., Shapira, Stuart K., Geraghty,

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 1.25 MB

english, 1998

8

Filippi syndrome: Report of three additional cases

Williams, Marc S., Williams, Janet L., Wargowski, David S., Pauli, Richard M., Pletcher, Beth A.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 493 KB

english, 1999

9

Familial occurrence of esophageal atresia with and without tracheoesophagel fistula:Report of two unusual kindreds

Beth A. Pletcher, Jonathan S. Friedes, W. Roy Breg, Robert J. Touloukian

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 567 KB

english, 1991

10

Long term follow-up of developmental delay in a child with prenatally-diagnosed trisomy 20 mosaicism

Robert Wallerstein, Sivya Twersky, Paige Layman, Liz Kernaghan, Hana Aviv, Helio F. Pedro, Beth Pletcher

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 58 KB

english, 2005

11

Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns

Beth A. Pletcher, Maureen M. Sanz, Jerrold S. Schlessel, Suphat Kunaporn, Carrie McKenna, Martin G. Bialer, M. Lita Alonso, Ann-Leslie Zaslav, W. Ted Brown, James H. Ray

Journal:

Prenatal Diagnosis

Année:

1994

Langue:

english

Fichier:

PDF, 762 KB

english, 1994

12

Chromosome abnormality in an isolated choroid plexus cyst

Lorraine Suslak, Beth A. Pletcher

Journal:

Prenatal Diagnosis

Année:

1995

Langue:

english

Fichier:

PDF, 127 KB

english, 1995

13

Bronchial hyperreactivity in children with Marfan syndrome

Dr. Peter König, Robert Boxer, John Morrison, Beth Pletcher

Journal:

Pediatric Pulmonology

Année:

1991

Langue:

english

Fichier:

PDF, 730 KB

english, 1991

14

SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome

Harumi Jyonouchi, Kenneth W. Lien, Helen Aguila, Gaetano G. Spinnato, Sanjeev Sabharwal, Beth A. Pletcher

Journal:

European Journal of Pediatrics

Année:

2006

Langue:

english

Fichier:

PDF, 108 KB

english, 2006

15

Cytogenetics of neurofibromas: two case reports and literature review

Kenian Liu, Patricia DeAngelo, Kathleen Mahmet, Penny Phytides, Lisa Osborne, Beth A. Pletcher

Journal:

Cancer Genetics and Cytogenetics

Année:

2010

Langue:

english

Fichier:

PDF, 220 KB

english, 2010

16

Primary Care Pediatricians' Satisfaction with Subspecialty Care, Perceived Supply, and Barriers to Care

Beth A. Pletcher, Mary Ellen Rimsza, William L. Cull, Scott A. Shipman, Richard P. Shugerman, Karen G. O'Connor

Journal:

The Journal of Pediatrics

Année:

2010

Langue:

english

Fichier:

PDF, 174 KB

english, 2010

17

Fragile X syndrome: Diagnostic and carrier testing

Sherman, Stephanie, Pletcher, Beth A, Driscoll, Deborah A

Journal:

Genetics in Medicine

Année:

2005

Langue:

english

Fichier:

PDF, 141 KB

english, 2005

18

Pulmonary Manifestations of Pediatric Diseases || Pulmonary Manifestations of Genetic Diseases

Pletcher, Beth A.

Année:

2009

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2009

19

Unraveling Gene Interactions in Patients with Neurofibromatosis Type 1

Pletcher, Beth A., Hayes-Rosen, Caroline

Journal:

The Journal of Pediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 137 KB

english, 2015

20

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

Levy, Brynn, Tegay, David, Papenhausen, Peter, Tepperberg, James, Nahum, Odelia, Tsuchida, Tammy, Pletcher, Beth A., Ala-Kokko, Leena, Baker, Stuart, Frederick, Barbara, Hirschhorn, Kurt, Warburton, P

Journal:

Genetics in Medicine

Année:

2012

Langue:

english

Fichier:

PDF, 879 KB

english, 2012

21

Carrier screening in individuals of Ashkenazi Jewish descent

Gross, Susan J, Pletcher, Beth A, Monaghan, Kristin G

Journal:

Genetics in Medicine

Année:

2008

Langue:

english

Fichier:

PDF, 115 KB

english, 2008

22

The future is now: carrier screening for all populations

Pletcher, Beth A, Gross, Susan J, Monaghan, Kristin G, Driscoll, Deborah A, Watson, Michael S

Journal:

Genetics in Medicine

Année:

2008

Langue:

english

Fichier:

PDF, 133 KB

english, 2008

23

A Phase II Trial of Irinotecan, 5-Fluorouracil and Leucovorin Combined with Celecoxib and Glutamine as First-Line Therapy for Advanced Colorectal Cancer

Pan, Chong-Xian, Loehrer, Patrick, Seitz, David, Helft, Paul, Juliar, Beth, Ansari, Rafat, Pletcher, William, Vinson, Jake, Cheng, Liang, Sweeney, Christopher

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 303 KB

english, 2005

24

Indications for genetic referral: a guide for healthcare providers

Pletcher, Beth A, Toriello, Helga V, Noblin, Sarah J, Seaver, Laurie H, Driscoll, Deborah A, Bennett, Robin L, Gross, Susan J

Journal:

Genetics in Medicine

Année:

2007

Langue:

english

Fichier:

PDF, 151 KB

english, 2007

25

Anterior Polar Cataract in Two Sisters With an Unbalanced 3;18 Chromosomal Translocation

Rubin, Steven E., Nelson, Leonard B., Pletcher, Beth A.

Journal:

American Journal of Ophthalmology

Année:

1994

Langue:

english

Fichier:

PDF, 705 KB

english, 1994

26

Congenital Bifid Sternum

Greenberg, Burt M., Becker, Jerrold M., Pletcher, Beth A.

Journal:

Plastic & Reconstructive Surgery

Année:

1991

Fichier:

PDF, 261 KB

1991

27

Response to ACMG guideline: Carrier screening in individuals of Ashkenazi Jewish decent

Gross, Susan J, Pletcher, Beth A, Monaghan, Kristin G

Journal:

Genetics in Medicine

Année:

2008

Langue:

english

Fichier:

PDF, 59 KB

english, 2008

28

Preconception and prenatal testing of biologic fathers for carrier status

Pletcher, Beth A, Bocian, Maureen

Journal:

Genetics in Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 84 KB

english, 2006

29

The practice of clinical genetics: A survey of practitioners

Pletcher, Beth A, Jewett, Ethan A B, Cull, William L, Brotherton, Sarah E, Hoyme, Eugene H, Pan, Richard J D, Mulvey, Holly J

Journal:

Genetics in Medicine

Année:

2002

Langue:

english

Fichier:

PDF, 882 KB

english, 2002

30

Vertebral artery aneurysm rupture and hemothorax in a patient with neurofibromatosis Type-1: A case report and review of the literature

Abdulrazeq, Hael F., Goldstein, Ira M., Elsamna, Samer T., Pletcher, Beth A.

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 620 KB

english, 2019