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1

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

Lina Shao, Chad A. Shaw, Xin-Yan Lu, Trilochan Sahoo, Carlos A. Bacino, Seema R. Lalani, Pawel Stankiewicz, Svetlana A. Yatsenko, Yinfeng Li, Sarah Neill, Amber N. Pursley, A. Craig Chinault, Ankita P

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 155 KB

english, 2008

2

A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome

Lynne M. Bird, Wen-Hann Tan, Carlos A. Bacino, Sarika U. Peters, Steven A. Skinner, Irina Anselm, Rene Barbieri-Welge, Astrid Bauer-Carlin, Jennifer K. Gentile, Daniel G. Glaze, Lucia T. Horowitz, K.

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 352 KB

english, 2011

3

Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency

Paolo Moretti, Sarika U. Peters, Daniela del Gaudio, Trilochan Sahoo, Keith Hyland, Teodoro Bottiglieri, Robert J. Hopkin, Elizabeth Peach, Sang Hee Min, David Goldman, Benjamin Roa, Carlos A. Bacino,

Journal:

Journal of Autism and Developmental Disorders

Year:

2008

Language:

english

File:

PDF, 178 KB

english, 2008

4

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid

Moretti, P., Sahoo, T., Hyland, K., Bottiglieri, T., Peters, S., del Gaudio, D., Roa, B., Curry, S., Zhu, H., Finnell, R. H., Neul, J. L., Ramaekers, V. T., Blau, N., Bacino, C. A., Miller, G., Scagli

Journal:

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

5

Annihilation

Bacino, W., Ferguson, T., Nodulman, L., Slater, W., Ticho, H. K., Diamant-Berger, A., Faessler, M., Hall, A., Irwin, G., Kirkby, J., Merritt, F., Wojcicki, S., Burns, R., Condon, P., Cowell, P., Kirz,

Journal:

Physical Review Letters

Year:

1978

Language:

english

File:

PDF, 556 KB

english, 1978

6

The Big Show in Bololand: The American Relief Expedition to Soviet Russia in the Famine of 1921by Bertrand M. Patenaude

Review by: Leo J. Bacino

Journal:

The Journal of American History

Year:

2004

Language:

english

File:

PDF, 410 KB

english, 2004

7

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

Probst, F. J., James, R. A., Burrage, L. C., Rosenfeld, J. A., Bohan, T. P., Melver, C. H. Ward, Magoulas, P., Austin, E., Franklin, A. I. A., Azamian, M., Xia, F., Patel, A., Bi, W., Bacino, C., Belm

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 2.38 MB

english, 2015

8

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

Vissing, John, Akman, H. Orhan, Aasly, Jan, Kahler, Stephen G., Bacino, Carlos A., DiMauro, Salvatore, Haller, Ronald G.

Journal:

Year:

2018

Language:

english

File:

PDF, 316 KB

english, 2018

9

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly

Pillai, Nishitha R., Marafi, Dana, Monteiro, Sonia A., Parnes, Mered, Chandy, Binoy Mathew, Patel, Ankita, Bacino, Carlos A., Breman, Amy M., Burrage, Lindsay C.

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 817 KB

english, 2018

10

Integrating the PILP-mineralization process into a restorative dental treatment

Bacino, Margot, Girn, Vishavjeet, Nurrohman, Hamid, Saeki, Kuniko, Marshall, Sally J, Gower, Laurie, Saeed, Ella, Stewart, Ray, Le, Thuan, Marshall, Grayson W, Habelitz, Stefan

Journal:

Dental Materials

Year:

2018

Language:

english

File:

PDF, 4.56 MB

english, 2018

11

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

Piccolo, Pasquale, Sabatino, Valeria, Mithbaokar, Pratibha, Polishchuk, Elena, Hicks, John, Polishchuk, Roman, Bacino, Carlos A., Brunetti‐Pierri, Nicola

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 1.47 MB

english, 2019

12

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism

Li, Chunmei, Beauregard-Lacroix, Eliane, Kondratev, Christine, Rousseau, Justine, Heo, Ah Jung, Neas, Katherine, Graham, Brett H., Rosenfeld, Jill A., Bacino, Carlos A., Wagner, Matias, Wenzel, Maren,

Journal:

The American Journal of Human Genetics

Year:

2021

File:

PDF, 4.13 MB

2021

13

Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature. Reply to Dr. Robinson and Dr. Kalousek

Bacino, Carlos A., Graham, John M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 97 KB

english, 1996

14

Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature. Reply to Dr. Hirschhorn

Bacino, Carlos A., Graham, John M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 73 KB

english, 1996

15

The Pointer syndrome: A new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties

Huq, A.H.M. Mahbubul, Braverman, Richard M., Greenberg, Frank, Bacino, Carlos A., Rimoin, David L., Lachman, Ralph S., Levin, Michael L.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 423 KB

english, 1997

16

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

Stockton, David W., Ross, Helen L., Bacino, Carlos A., Altman, Carolyn A., Shaffer, Lisa G., Lupski, James R.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 376 KB

english, 1997

17

Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart

Bacino, Carlos A., Lee, Brendan, Spikes, Aimee S., Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 799 KB

english, 1999

18

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two Patients with Seckel syndrome

Abou-Zahr, Fadi, Bejjani, Bassem, Kruyt, Frank A.E., Kurg, Reet, Bacino, Carlos, Shapira, Stuart K., Youssoufian, Hagop

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 133 KB

english, 1999

19

Caution: Telomere crossing

Shaffer, Lisa G., Kashork, Catherine D., Bacino, Carlos A., Benke, Paul J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.46 MB

english, 1999

20

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

Atkins, Kay E., Gregg, Anthony, Spikes, Aimee S., Bacino, Carlos A., Bejjani, Bassem A., Kirkland, John, Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 1.10 MB

english, 2000

21

Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes

Bacino, Carlos A., Kashork, Catherine D., Davino, Nelson A., Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 1.30 MB

english, 2000

22

Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome

Carlos A. Bacino, David W. Stockton, Roberta A. Sierra, Heidi A. Heilstedt, Raymond Lewandowski, Ignatia B. Van den Veyver

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 624 KB

english, 2000

23

Atypical presentation of amniotic band sequence

O.A.F. Bodamer, E.J. Popek, C. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 135 KB

english, 2001

24

Familial complex chromosomal rearrangement resulting in a recombinant chromosome

Sue Ann Berend, Olaf A.F. Bodamer, Stuart K. Shapira, Lisa G. Shaffer, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 4.38 MB

english, 2002

25

Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature

Carlos A. Bacino, Rhona Schreck, Nathan Fischel-Ghodsian, Samuel Pepkowitz, Toni R. Prezant, Dr. John M. Graham Jr.

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 828 KB

english, 1995

26

X-Linked Mental Retardation, by Roger E. Stevenson, Charles E. Schwartz, and Richard J. Schroer, editors

Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 31 KB

english, 2001

27

Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome

B.H. Graham, C.A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 139 KB

english, 2003

28

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

Seema R. Lalani, David W. Stockton, Carlos Bacino, Laura M. Molinari, Nancy L. Glass, Susan D. Fernbach, Jeffrey A. Towbin, William J. Craigen, John M. Graham Jr, Margaret A. Hefner, Angela E. Lin, Ki

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 170 KB

english, 2003

29

Preimplantation genetic diagnosis for a known cryptic translocation: Follow-up clinical report and implication of segregation products

L.J. McKenzie, P.L. Cisneros, S. Torsky, C.A. Bacino, J.E. Buster, S.A. Carson, J.L. Simpson, F. Bischoff

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 57 KB

english, 2003

30

Re: Clinical report by Ahmad et al. 14q(22) deletion in a familial case of anophthalmia with polydactyly

Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 30 KB

english, 2004

31

Cognitive and adaptive behavior profiles of children with Angelman syndrome

Sarika U. Peters, Jan Goddard-Finegold, Arthur L. Beaudet, Niru Madduri, Marie Turcich, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 57 KB

english, 2004

32

Re: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions: Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S

Carlos A. Bacino, Farideh Z. Bischoff, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 33 KB

english, 2004

33

A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation

Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T. Noblin, Carlos A. Bacino, Michael J. Gambello

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 203 KB

english, 2005

34

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation

P.A. Lennon, M.L. Cooper, M.A. Curtis, C. Lim, Z. Ou, A. Patel, S.W. Cheung, C.A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 249 KB

english, 2006

35

Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review

P.A. Lennon, M.L. Cooper, D.A. Peiffer, K.L. Gunderson, A. Patel, Sarika Peters, S.W. Cheung, C.A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 262 KB

english, 2007

36

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

Sau W. Cheung, Chad A. Shaw, Daryl A. Scott, Ankita Patel, Trilochan Sahoo, Carlos A. Bacino, Amber Pursley, Jiangzhen Li, Robert Erickson, Andrea L. Gropman, David T. Miller, Margretta R. Seashore, A

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 177 KB

english, 2007

37

Low-level mosaicism of trisomy 14: Phenotypic and molecular characterization

Marwan Shinawi, Lina Shao, Linda Jo Bone Jeng, Chad A. Shaw, Ankita Patel, Carlos Bacino, Vernon R. Sutton, John Belmont, Sau Wai Cheung

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 334 KB

english, 2008

38

Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation

Nicola Brunetti-Pierri, Daniela del Gaudio, Hartmut Peters, Henri Justino, Claus-Eric Ott, Stefan Mundlos, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 365 KB

english, 2008

39

Craniofacial and anthropometric phenotype in ankyloblepharon–ectodermal defects–cleft lip/palate syndrome (Hay–Wells syndrome) in a cohort of 17 patients

V. Reid Sutton, Katie Plunkett, Diane X. Dang, Richard A. Lewis, Alanna F. Bree, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 256 KB

english, 2009

40

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

Margaret J. Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi Dagli, Carlos Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott, Sung-Hae Lee Kang

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 334 KB

english, 2009

41

Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome

Svetlana A. Yatsenko, Maria del Valle Torrado, Priscilla H. Fernandes, Joanna Wiszniewska, Marta Gallego, Jorge Herrera, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 279 KB

english, 2009

42

Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

Jonathan S. Berg, Lorraine Potocki, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 158 KB

english, 2010

43

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

Sung-Hae L. Kang, Chad Shaw, Zhishuo Ou, Patricia A. Eng, M. Lance Cooper, Amber N. Pursley, Trilochan Sahoo, Carlos A. Bacino, A. Craig Chinault, Pawel Stankiewicz, Ankita Patel, James R. Lupski, Sau

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 730 KB

english, 2010

44

Introductory comments on special section—Genomic microduplications: When adding may equal subtracting

Carlos A. Bacino, Sau-Wai Cheung

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 60 KB

english, 2010

45

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

Nicola Brunetti-Pierri, Ralph Lachman, Kwanghyuk Lee, Suzanne M. Leal, Pasquale Piccolo, Ignatia B. Van Den Veyver, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 233 KB

english, 2010

46

Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association

Cammon B. Arrington, Ankita Patel, Carlos A. Bacino, Neil E. Bowles

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 277 KB

english, 2010

47

Angelman syndrome: Mutations influence features in early childhood

Wen-Hann Tan, Carlos A. Bacino, Steven A. Skinner, Irina Anselm, Rene Barbieri-Welge, Astrid Bauer-Carlin, Arthur L. Beaudet, Terry Jo Bichell, Jennifer K. Gentile, Daniel G. Glaze, Lucia T. Horowitz,

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 133 KB

english, 2011

48

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q

Amy M. Breman, Frank J. Probst, Maria A. Blazo, Christian P. Schaaf, Erin K. Roney, William J. Craigen, Carlos A. Bacino, Sau Wai Cheung

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.26 MB

english, 2011

49

A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH)

Luis A. Umaña, Pilar Magoulas, Weimin Bi, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 864 KB

english, 2011

50

WDR62 missense mutation in a consanguineous family with primary microcephaly

Carlos A. Bacino, Luis A. Arriola, Joanna Wiszniewska, Penelope E. Bonnen

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 184 KB

english, 2012

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