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1

Head circumference and height in autism: A study by the collaborative program of excellence in autism

Janet E. Lainhart, Erin D. Bigler, Maureen Bocian, Hilary Coon, Elena Dinh, Geraldine Dawson, Curtis K. Deutsch, Michelle Dunn, Annette Estes, Helen Tager-Flusberg, Susan Folstein, Susan Hepburn, Susa

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 443 KB

english, 2006

2

Mitochondrial dysfunction in autistic patients with 15q inverted duplication

Pauline A. Filipek, Jenifer Juranek, Moyra Smith, Lee Z. Mays, Erica R. Ramos, Maureen Bocian, Diane Masser-Frye, Tracy M. Laulhere, Charlotte Modahl, M. Anne Spence, J. Jay Gargus

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 65 KB

english, 2003

3

57. Initiating enzyme replacement therapy in young child diagnosed with Hunter syndrome shortly after approval of idursulfase

June-Anne Gold, Anirudh Saronwala, Maureen Bocian, J. Jay Gargus

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

4

McLeod Syndrome: A Previously Unreported XK Genotype

Bhansali, Deepty, Bocian, Maureen, Westhoff, Connie M., Tran, Minh Ha

Journal:

American Journal of Clinical Pathology

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

5

Crisis Counseling: The Newborn Infant with a Chromosomal Anomaly

Bocian, Maureen E., Kaback, Michael M.

Journal:

Pediatric Clinics of North America

Year:

1978

Language:

english

File:

PDF, 922 KB

english, 1978

6

Intrauterine diagnosis of triploidy: The use of radiologic and ultrasonographic techniques in conjunction with amniocentesis

Maureen Bocian, Laurence E. Karp, T. Mohandas, Dennis Sarti, Ralph Lachman, Arthur Wisot, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1978

Language:

english

File:

PDF, 622 KB

english, 1978

7

Methylmalonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia: Activity of urea cycle enzymes

Larry J. Shapiro, Maureen E. Bocian, Luisa Raijman, Stephen D. Cederbaum, Kenneth N.F. Shaw

Journal:

The Journal of Pediatrics

Year:

1978

Language:

english

File:

PDF, 366 KB

english, 1978

8

Hydrops fetalis in the McKusick-Kaufman syndrome: A case report

Rosen, Robin S., Bocian, Maureen E.

Journal:

American Journal of Obstetrics and Gynecology

Year:

1991

Language:

english

File:

PDF, 229 KB

english, 1991

9

Preconception and prenatal testing of biologic fathers for carrier status

Pletcher, Beth A, Bocian, Maureen

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 84 KB

english, 2006

10

Familial diaphragmatic defects. Early prenatal diagnosis and evidence for major gene inheritance

Maureen Bocian, M. Anne Spence, Mary L. Marazita, Ann P. Walker, Daniel L. Weissberg, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 1.01 MB

english, 1986

11

Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

Shah, Forum, French, Kathryn, Osann, Kathryn, Bocian, Maureen, Jones, Marilyn, Korty, Lauren

Journal:

Journal of Clinical Medicine

Year:

2014

Language:

english

File:

PDF, 825 KB

english, 2014

12

Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk

C. O. M. V. Reid, Dr. J. G. Hall, Carol Anderson, Maureen Bocian, John Carey, Theresa Costa, Cynthia Curry, Frank Greenberg, William Horton, Marilyn Jones, Charlotte Lafer, Eunice Larson, Mark Lubinsk

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 640 KB

english, 1986

13

Recent Cytogenetic Advances and Implications for Pediatric Practice

Bocian, Maureen, Mohandas, T.

Journal:

Pediatric Clinics of North America

Year:

1978

Language:

english

File:

PDF, 13.34 MB

english, 1978

14

The spirit of dysmorphology future (or: Hoyle foiled)

Laurence E. Karp, Maureen Bocian

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 298 KB

english, 1984

15

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann N. Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael

Journal:

Year:

2010

Language:

english

File:

PDF, 196 KB

english, 2010

16

Interstitial deletion of the long arm of chromosome 3: Case report, review, and definition of a phenotype

Monica Alvarado, Dr. Maureen Bocian, Ann P. Walker, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 801 KB

english, 1987

17

Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II

Harvey J. Stern, John M. Graham Jr., Ralph S. Lachman, William Horton, Philip M. Bernini, Peter K. Spiegel, Joann Bodurtha, Elizabeth J. Ives, Maureen Bocian, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 1.36 MB

english, 1990

18

NIH Public Access

Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Cynthia, J

Year:

2011

Language:

english

File:

PDF, 389 KB

english, 2011

19

Fetal hydrocephalus and ear anomalies associated with maternal use of isotretinoin

Ira T. Lott, Maureen Bocian, Henry W. Pribram, Marc Leitner

Journal:

The Journal of Pediatrics

Year:

1984

Language:

english

File:

PDF, 1.58 MB

english, 1984

20

Trisomy of the short arm of chromosome 8: Association with translocation between chromosomes 8 and 22 46,XY,22−,t(8p22q)+

Ira M. Rosenthal, Eva Krmpotic, Maureen Bocian, Katarina Szego

Journal:

Clinical Genetics

Year:

1973

Language:

english

File:

PDF, 606 KB

english, 1973

21

Fetal Hydrocephalus and Ear Anomalies Associated with Maternal Use of Isotretinoin

LOTT, IRA T., BOCIAN, MAUREEN, PRIBRAM, HENRY W., LEITNER, MARC

Journal:

Obstetric and Gynecologic Survey

Year:

1985

File:

PDF, 223 KB

1985

22

Importance of accurate diagnosis in counseling for neural tube defects diagnosed prenatally

Kathryn A. Steinhaus, Renée Bernstein, Maureen E. Bocian

Journal:

Clinical Genetics

Year:

1991

Language:

english

File:

PDF, 477 KB

english, 1991

23

Highly Discordant Phenotype in Siblings with Wolman Syndrome and Absent LAL Enzyme Activity

J. Jay Gargus, Kim Verrell, Marie Wencel, Maureen Bocian, Virginia Kimonis

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 73 KB

english, 2012

24

Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization

Renee Bernstein, Maureen E. Bocian, Mary J. Cain, Ulla Bengtsson, John J. Wasmuth

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 604 KB

english, 1993

25

A syndrome of short stature, joint laxity and developmental delay

Carol E. Anderson, Maureen E. Bocian, Ann P. Walker, Ralph Lachman, David L. Rimon

Journal:

Clinical Genetics

Year:

1982

Language:

english

File:

PDF, 510 KB

english, 1982

26

Atypical biochemical findings in Turner’s syndrome: identification of a possible subset

Valenta, Lubomir J., Elias, Alan N., Bocian, Maureen

Journal:

Fertility and Sterility

Year:

1984

Language:

english

File:

PDF, 569 KB

english, 1984

27

Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma

Limwongse, Chanin, Schwartz, Stuart, Bocian, Maureen, Robin, Nathaniel H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 169 KB

english, 1999

28

Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature

Mortier, Geert R., Lachman, Ralph S., Bocian, Maureen, Rimoin, David L.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 935 KB

1996

29

Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: Identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13

Moyra Smith, Pauline A. Filipek, Charles Wu, Maureen Bocian, Simin Hakim, Charlotte Modahl, M. Anne Spence

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 3.04 MB

english, 2000

30

Genetic Linkage Analysis of Neurofibromatosis

M. ANNE SPENCE, DILYS M. PARRY, JUDY L. BADER, MARY L. MARAZITA, MAUREEN BOCIAN, STEVE J. FUNDERBURK, JOHN J. MULVIHILL, ROBERT S. SPARKES

Journal:

Annals of the New York Academy of Sciences

Year:

1986

Language:

english

File:

PDF, 369 KB

english, 1986

31

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Rita Shiang, Leslie M. Thompson, Ya-Zhen Zhu, Deanna M. Church, Thomas J. Fielder, Maureen Bocian, Sara T. Winokur, John J. Wasmuth

Journal:

Year:

1994

Language:

english

File:

PDF, 1.27 MB

english, 1994

32

A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2,GLRA3,GLRB) and neuropeptide receptorsNPY1R,NPY5R

Subhadra Ramanathan, Abigail Woodroffe, Pamela L Flodman, Lee Z Mays, Mona Hanouni, Charlotte B Modahl, Robin Steinberg-Epstein, Maureen E Bocian, M Anne Spence, Moyra Smith

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 534 KB

english, 2004

33

Computed tomographic reconstruction of a fetus with the dysgnathia complex (agnathia-otocephaly)

Priya V. Rajan, Deborah A. Wing, Maureen Bocian, Anna McKeown

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 155 KB

english, 2007

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