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1

Down syndrome

Antonarakis, Stylianos E., Skotko, Brian G., Rafii, Michael S., Strydom, Andre, Pape, Sarah E., Bianchi, Diana W., Sherman, Stephanie L., Reeves, Roger H.

Journal:

Nature Reviews Disease Primers

Année:

2020

Langue:

english

Fichier:

PDF, 3.25 MB

english, 2020

2

Prenatal diagnosis of Down syndrome: How best to deliver the news

Brian G. Skotko, Priya S. Kishnani, George T. Capone, for the Down Syndrome Diagnosis Study Group

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 105 KB

english, 2009

3

Down syndrome: Cognitive and behavioral functioning across the lifespan

Grieco, Julie, Pulsifer, Margaret, Seligsohn, Karen, Skotko, Brian, Schwartz, Alison

Journal:

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

Année:

2015

Langue:

english

Fichier:

PDF, 364 KB

english, 2015

4

Self-perceptions from people with Down syndrome

Brian G. Skotko, Susan P. Levine, Richard Goldstein

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 180 KB

english, 2011

5

Having a brother or sister with Down syndrome: Perspectives from siblings

Brian G. Skotko, Susan P. Levine, Richard Goldstein

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 155 KB

english, 2011

6

Prenatally diagnosed Down syndrome: Mothers who continued their pregnancies evaluate their health care providers

Brian G. Skotko

Journal:

American Journal of Obstetrics and Gynecology

Année:

2005

Langue:

english

Fichier:

PDF, 168 KB

english, 2005

7

H.M.'s personal crossword puzzles: Understanding memory and language

Skotko, Brian G., Rubin, David C., Tupler, Larry A.

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 155 KB

english, 2008

8

Supporting Communication of Girls with Rett Syndrome and their Mothers in Storybook Reading

Koppenhaver, David A., Erickson, Karen A., Skotko, Brian G.

Journal:

International Journal of Disability Development and Education

Année:

2001

Langue:

english

Fichier:

PDF, 196 KB

english, 2001

9

Postnatal Support for Mothers of Children With Down Syndrome

Skotko, Brian, Bedia, Ricardo Canal, Taylor, Steven J.

Journal:

Mental Retardation

Année:

2005

Langue:

english

Fichier:

PDF, 213 KB

english, 2005

10

Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States

de Graaf, Gert, Buckley, Frank, Skotko, Brian G.

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 2.87 MB

english, 2015

11

Having a son or daughter with Down syndrome: Perspectives from mothers and fathers

Brian G. Skotko, Susan P. Levine, Richard Goldstein

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 165 KB

english, 2011

12

What the other children are thinking: Brothers and sisters of persons with Down syndrome

Brian G. Skotko, Susan P. Levine

Journal:

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

Année:

2006

Langue:

english

Fichier:

PDF, 105 KB

english, 2006

13

Language and the medial temporal lobe: Evidence from H.M.’s spontaneous discourse

Brian G. Skotko, Edna Andrews, Gillian Einstein

Journal:

Journal of Memory and Language

Année:

2005

Langue:

english

Fichier:

PDF, 342 KB

english, 2005

14

Corrigendum to “Language and the medial temporal lobe: Evidence from H.M.’s spontaneous discourse” [Journal of Memory and Language 53 (2005) 397–415]

Brian G. Skotko, Edna Andrews, Gillian Einstein

Journal:

Journal of Memory and Language

Année:

2006

Langue:

english

Fichier:

PDF, 49 KB

english, 2006

15

Words matter: The importance of nondirective language in first-trimester assessments for Down syndrome

Journal:

American Journal of Obstetrics and Gynecology

Année:

2006

Langue:

english

Fichier:

PDF, 73 KB

english, 2006

16

Correction notice

Skotko, Brian G., Rubin, David C., Tupler, Larry A.

Journal:

Année:

1965

Langue:

english

Fichier:

PDF, 233 KB

english, 1965

17

Contributions of a specialty clinic for children and adolescents with Down syndrome

Skotko, Brian G., Davidson, Emily Jean, Weintraub, Gil S.

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 116 KB

english, 2013

18

Resources available for informed prenatal decisions

Leach, Mark W., Skotko, Brian G.

Journal:

Genetics in Medicine

Année:

2012

Langue:

english

Fichier:

PDF, 434 KB

english, 2012

19

Live births, natural losses, and elective terminations with Down syndrome in Massachusetts

de Graaf, Gert, Buckley, Frank, Skotko, Brian G.

Journal:

Genetics in Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 593 KB

english, 2016

20

First- and Second-Trimester Evaluation of Risk for Down Syndrome

Skotko, Brian G.

Journal:

Obstetrics & Gynecology

Année:

2007

Langue:

english

Fichier:

PDF, 453 KB

english, 2007

21

Comparing Three Screening Strategies for Combining First- and Second-Trimester Down Syndrome Markers

Journal:

Obstetrics & Gynecology

Année:

2006

Langue:

english

Fichier:

PDF, 166 KB

english, 2006

22

A Surprising Postnatal Diagnosis

Skotko, Brian G.

Journal:

Obstetrics & Gynecology

Année:

2006

Langue:

english

Fichier:

PDF, 82 KB

english, 2006

23

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Gregg, Anthony R., Skotko, Brian G., Benkendorf, Judith L., Monaghan, Kristin G., Bajaj, Komal, Best, Robert G., Klugman, Susan, Watson, Michael S.

Journal:

Genetics in Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 458 KB

english, 2016

24

Family perspectives about Down syndrome

Skotko, Brian G., Levine, Susan P., Macklin, Eric A., Goldstein, Richard D.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 108 KB

english, 2016

25

Rapid clinical deterioration in an individual with Down syndrome

Jacobs, Julia, Schwartz, Alison, McDougle, Christopher J., Skotko, Brian G.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 73 KB

english, 2016

26

Estimation of the number of people with Down syndrome in the United States

de Graaf, Gert, Buckley, Frank, Skotko, Brian G.

Journal:

Genetics in Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 995 KB

english, 2016

27

Puzzling Thoughts for H. M.: Can New Semantic Information Be Anchored to Old Semantic Memories?

Skotko, Brian G., Kensinger, Elizabeth A., Locascio, Joseph J., Einstein, Gillian, Rubin, David C., Tupler, Larry A., Krendl, Anne, Corkin, Suzanne

Journal:

Neuropsychology

Année:

2004

Langue:

english

Fichier:

PDF, 332 KB

english, 2004

28

A predictive model for obstructive sleep apnea and Down syndrome

Skotko, Brian G., Macklin, Eric A., Muselli, Marco, Voelz, Lauren, McDonough, Mary Ellen, Davidson, Emily, Allareddy, Veerasathpurush, Jayaratne, Yasas S. N., Bruun, Richard, Ching, Nicholas, Weintrau

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 307 KB

english, 2017

29

Corrigendum to “Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347.”

Skotko, Brian G., Levine, Susan P., Goldstein, Richard

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 101 KB

english, 2017

30

Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome

Elsharkawi, Ibrahim, Gozal, David, Macklin, Eric A., Voelz, Lauren, Weintraub, Gil, Skotko, Brian G.

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 633 KB

english, 2017

31

Craniofacial features as assessed by lateral cephalometric measurements in children with Down syndrome

Allareddy, Veerasathpurush, Ching, Nicholas, Macklin, Eric A., Voelz, Lauren, Weintraub, Gil, Davidson, Emily, Prock, Lisa Albers, Rosen, Dennis, Brunn, Richard, Skotko, Brian G.

Journal:

Progress in Orthodontics

Année:

2016

Langue:

english

Fichier:

PDF, 1.51 MB

english, 2016

32

A Randomized, Double-Blind, Placebo-Controlled, Phase II Study of Oral ELND005 (scyllo-Inositol) in Young Adults with Down Syndrome without Dementia

Rafii, Michael S., Skotko, Brian G., McDonough, Mary Ellen, Pulsifer, Margaret, Evans, Casey, Doran, Eric, Muranevici, Gabriela, Kesslak, Patrick, Abushakra, Susan, Lott, Ira T., Fortea, Juan

Journal:

Journal of Alzheimer's Disease

Année:

2017

Langue:

english

Fichier:

PDF, 357 KB

english, 2017

33

Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update

Gregg, Anthony R., Skotko, Brian G., Benkendorf, Judith L., Monaghan, Kristin G., Bajaj, Komal, Best, Robert G., Klugman, Susan, Watson, Michael S.

Journal:

Obstetric and Gynecologic Survey

Année:

2017

Langue:

english

Fichier:

PDF, 86 KB

english, 2017

34

Out-of-pocket medical costs and third-party healthcare costs for children with Down syndrome

Kageleiry, Andrew, Samuelson, David, Duh, Mei Sheng, Lefebvre, Patrick, Campbell, John, Skotko, Brian G.

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 296 KB

english, 2017

35

The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea

Jayaratne, Yasas S. N., Elsharkawi, Ibrahim, Macklin, Eric A., Voelz, Lauren, Weintraub, Gil, Rosen, Dennis, Skotko, Brian G.

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 1.95 MB

english, 2017

36

Estimation of live birth and population prevalence of Down syndrome in nine U.S. states

de Graaf, Gert, Buckley, Frank, Dever, Jennifer, Skotko, Brian G.

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 1.71 MB

english, 2017

37

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date

Hart, Sarah J., Visootsak, Jeannie, Tamburri, Paul, Phuong, Patrick, Baumer, Nicole, Hernandez, Maria-Clemencia, Skotko, Brian G., Ochoa-Lubinoff, Cesar, Liogier D'Ardhuy, Xavier, Kishnani, Priya S.,

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 457 KB

english, 2017

38

Hypoglossal Nerve Stimulation in Adolescents With Down Syndrome and Obstructive Sleep Apnea

Diercks, Gillian R., Wentland, Carissa, Keamy, Donald, Kinane, Thomas Bernard, Skotko, Brian, de Guzman, Vanessa, Grealish, Ellen, Dobrowski, John, Soose, Ryan, Hartnick, Christopher J.

Journal:

JAMA Otolaryngologyâ - Head & Neck Surgery

Année:

2017

Langue:

english

Fichier:

PDF, 148 KB

english, 2017

39

Use of Electronic Health Record Integration for Down Syndrome Guidelines

Santoro, Stephanie L., Bartman, Thomas, Cua, Clifford L., Lemle, Stephanie, Skotko, Brian G.

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2018

40

Parents' perceptions of functional abilities in people with Down syndrome

de Graaf, Gert, Levine, Susan P., Goldstein, Richard, Skotko, Brian G.

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 3.06 MB

english, 2018

41

Comment on “The price of abandoning diagnostics testing for cell-free fetal DNA screening”

Skotko, Brian G., Samuelson, David, Kageleiry, Andrew, Lefebvre, Patrick, Hellstern, Michael, Campbell, John

Journal:

Prenatal Diagnosis

Année:

2019

Langue:

english

Fichier:

PDF, 163 KB

english, 2019

42

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations

Skotko, Brian G., Allyse, Megan A., Bajaj, Komal, Best, Robert G., Klugman, Susan, Leach, Mark, Meredith, Stephanie, Michie, Marsha, Stoll, Katie, Gregg, Anthony R.

Journal:

Genetics in Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 877 KB

english, 2019

43

Response to Johansen Taber et al.

Skotko, Brian G., Allyse, Megan A., Bajaj, Komal, Best, Robert G., Leach, Mark, Meredith, Stephanie, Michie, Marsha, Stoll, Katie

Journal:

Genetics in Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 261 KB

english, 2019

44

Quantitative MRI Analyses of Regional Brain Growth in Living Fetuses with Down Syndrome

Tarui, Tomo, Im, Kiho, Madan, Neel, Madankumar, Rajeevi, Skotko, Brian G, Schwartz, Allie, Sharr, Christianne, Ralston, Steven J, Kitano, Rie, Akiyama, Shizuko, Yun, Hyuk Jin, Grant, Ellen, Bianchi, D

Journal:

Cerebral Cortex

Année:

2019

Langue:

english

Fichier:

PDF, 747 KB

english, 2019

45

Detection of iron deficiency in children with Down syndrome

Hart, Sarah J., Zimmerman, Kanecia, Linardic, Corinne M., Cannon, Sheila, Pastore, Anna, Patsiogiannis, Vasiliki, Rossi, Paolo, Santoro, Stephanie L., Skotko, Brian G., Torres, Amy, Valentini, Diletta

Journal:

Genetics in Medicine

Année:

2019

Fichier:

PDF, 551 KB

2019

46

Receiving the news of Down syndrome in the era of prenatal testing

Crombag, Neeltje MTH, Page‐Christiaens, Godelieve CML, Skotko, Brian G., Graaf, Gert

Journal:

American Journal of Medical Genetics Part A

Année:

2019

Langue:

english

Fichier:

PDF, 1.54 MB

english, 2019

47

Geospatial Analyses of Accessibility to Down Syndrome Specialty Care

Joslyn, Nicholas, Berger, Heidi, Skotko, Brian G.

Journal:

The Journal of Pediatrics

Année:

2019

Fichier:

PDF, 282 KB

2019

48

Receiving the news of Down syndrome in the era of prenatal testing

Crombag, Neeltje MTH, Page‐Christiaens, Godelieve CML, Skotko, Brian G., Graaf, Gert

Journal:

American Journal of Medical Genetics Part A

Année:

2019

Fichier:

PDF, 1.54 MB

2019

49

Dynamics of plasma biomarkers in Down syndrome: the relative levels of AÎ²42 decrease with age, whereas NT1 tau and NfL increase

Mengel, David, Liu, Wen, Glynn, Robert J., Selkoe, Dennis J., Strydom, Andre, Lai, Florence, Rosas, H. Diana, Torres, Amy, Patsiogiannis, Vasiliki, Skotko, Brian, Walsh, Dominic M.

Journal:

Alzheimer's Research & Therapy

Année:

2020

Langue:

english

Fichier:

PDF, 971 KB

english, 2020

50

New-Onset Abnormal Vocalizations in an Adult Woman With Down Syndrome

Palumbo, Michelle L., Robbins, James O., Chaney, Michelle, Keary, Christopher, Schwartz, Allison, Skotko, Brian G., McDougle, Christopher J.

Journal:

Année:

2020

Fichier:

PDF, 101 KB

2020