D. McDonald-McGinn: search on Z-Library

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1

Autosomal dominant inheritance of infantile myofibromatosis

Dina J. Zand, Dale Huff, David Everman, Karen Russell, Sulagna Saitta, Donna McDonald-McGinn, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 230 KB

english, 2004

2

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series

Butcher, Nancy J., Boot, Erik, Lang, Anthony E., Andrade, Danielle, Vorstman, Jacob, McDonald-McGinn, Donna, Bassett, Anne S.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.11 MB

english, 2018

3

Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome

Niarchou, Maria, Chawner, Samuel J.R.A., Fiksinski, Ania, Vorstman, Jacob A.S., Maeder, Johanna, Schneider, Maude, Eliez, Stephan, Armando, Marco, Pontillo, Maria, Vicari, Stefano, McDonald-McGinn, Do

Journal:

Schizophrenia Research

Year:

2018

Language:

english

File:

PDF, 293 KB

english, 2018

4

Neurologic challenges in 22q11.2 deletion syndrome

Hopkins, Sarah E., Chadehumbe, Madeline, Blaine Crowley, Terrence, Zackai, Elaine H., Bilaniuk, Larissa T., McDonald-McGinn, Donna M.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 844 KB

english, 2018

5

Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: An X-linked disorder?

Pellegrino, Joan E., McDonald-McGinn, Donna M., Schneider, Adele, Markowitz, Richard I., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.44 MB

english, 1997

6

Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother

Gripp, Karen W., Barr, Mason, Anadiotis, George, McDonald-McGinn, Donna M., Zderic, Stephen A., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 437 KB

english, 1999

7

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

8

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome

Sulagna C. Saitta, Stacy E. Harris, Donna M. McDonald-McGinn, Beverly S. Emanuel, Melissa K. Tonnesen, Elaine H. Zackai, Suzanne C. Seitz, Deborah A. Driscoll

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 158 KB

english, 2004

9

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Nathaniel H. Robin, Clare J. Taylor, Donna M. McDonald-McGinn, Elaine H. Zackai, Peter Bingham, Kevin J. Collins, Dawn Earl, Deepak Gill, Tiziana Granata, Renzo Guerrini, Naomi Katz, Virginia Kimonis,

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 331 KB

english, 2006

10

Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome

Usha T. Sundaram, Donna M. McDonald-McGinn, Dale Huff, Beverly S. Emanuel, Elaine H. Zackai, Deborah A. Driscoll, Joann Bodurtha

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 73 KB

english, 2007

11

Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children

Alex Habel, Michael-John McGinn II, Elaine H. Zackai, Nancy Unanue, Donna M. McDonald-McGinn

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 684 KB

english, 2012

12

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

Wenger, Tara L., Miller, Judith S., DePolo, Lauren M., de Marchena, Ashley B., Clements, Caitlin C., Emanuel, Beverly S., Zackai, Elaine H., McDonald-McGinn, Donna M., Schultz, Robert T.

Journal:

Molecular Autism

Year:

2016

Language:

english

File:

PDF, 1.24 MB

english, 2016

13

22q11.2 deletion syndrome

McDonald-McGinn, Donna M., Sullivan, Kathleen E., Marino, Bruno, Philip, Nicole, Swillen, Ann, Vorstman, Jacob A. S., Zackai, Elaine H., Emanuel, Beverly S., Vermeesch, Joris R., Morrow, Bernice E., S

Journal:

Nature Reviews Disease Primers

Year:

2015

Language:

english

File:

PDF, 3.62 MB

english, 2015

14

Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

Wenger, Tara L., Miller, Judith S., DePolo, Lauren M., de Marchena, Ashley B., Clements, Caitlin C., Emanuel, Beverly S., Zackai, Elaine H., McDonald-McGinn, Donna M., Schultz, Robert T.

Journal:

Molecular Autism

Year:

2016

Language:

english

File:

PDF, 547 KB

english, 2016

15

A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis

Gripp, Karen W, Kasparcova, Viera, McDonald-McGinn, Donna M, Bhatt, Sucheta, Bartlett, Scott P, Storm, Andrea L, Drumheller, Timothy C, Emanuel, Beverly S, Zackai, Elaine H, Stolle, Catherine A

Journal:

Genetics in Medicine

Year:

2001

Language:

english

File:

PDF, 576 KB

english, 2001

16

Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome

Tang, Sunny X., Moberg, Paul J., Yi, James J., Wiemken, Andrew S., Dress, Erich M., Moore, Tyler M., Calkins, Monica E., McDonald-McGinn, Donna M., Zackai, Elaine H., Emanuel, Beverly S., Gur, Ruben C

Journal:

Schizophrenia Research

Year:

2018

Language:

english

File:

PDF, 1.29 MB

english, 2018

17

Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-McGinn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E.,

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 97 KB

english, 2018

18

22q11.2 deletion syndrome: A tiny piece leading to a big picture

McDonald-McGinn, Donna M.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 713 KB

english, 2018

19

Club foot in association with the 22q11.2 deletion syndrome: An observational study

Homans, Jelle F., Crowley, Terrence B., Chen, Erin, McGinn, Daniel E., Deeney, Vincent F. X., Sakkers, Ralph J. B., Davidson, Richard S., Castelein, René M., McDonald-McGinn, Donna M.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 829 KB

english, 2018

20

22q11.2 deletion â a tiny piece leading to a big picture

McDonald-McGinn, Donna M.

Journal:

Nature Reviews Disease Primers

Year:

2020

File:

PDF, 799 KB

2020

21

Frontonasal malformation and cloacal exstrophy: A previously unreported association

Robin, Nathaniel H., Neidich, Julie A., Bason, Lynn D., Whitaker, Linton A., McDonald-McGinn, Donna, Hunter, Jill, Snyder, Howard M., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 404 KB

1996

22

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance

Gripp, Karen W., Donnai, Dian, Clericuzio, Carol L., McDonald-McGinn, Donna M., Guttenberg, Marta, Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 215 KB

english, 1997

23

Nasal dimple as part of the 22q11.2 deletion syndrome

Gripp, Karen W., McDonald-McGinn, Donna M., Driscoll, Deborah A., Reed, Lori A., Emanuel, Beverly S., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 401 KB

english, 1997

24

Sibs with cleidocranial dysplasia born to normal parents: Germ line mosaicism?

Zackai, Elaine H., Robin, Nathaniel H., McDonald-McGinn, Donna M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 171 KB

english, 1997

25

Arthritis associated with deletion of 22q11.2: More common than previously suspected

Keenan, Gregory F., Sullivan, Kathleen E., McDonald-McGinn, Donna M., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 11 KB

english, 1997

26

Enlarged sylvian fissures in infants with interstitial deletion of chromosome 22q11

Bingham, Peter M., Zimmerman, Robert A., McDonald-McGinn, Donna, Driscoll, Deborah, Emanuel, Beverly S., Zackai, Elaine

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 153 KB

english, 1997

27

Skeletal anomalies and deformities in patients with deletions of 22q11

Ming, Jeffrey E., McDonald-McGinn, Donna M., Megerian, Tanya E., Driscoll, Deborah A., Elias, Ellen Roy, Russell, Barbara M., Irons, Mira, Emanuel, Beverly S., Markowitz, Richard I., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 361 KB

english, 1997

28

What's in a name? The 22q11.2 deletion

McDonald-McGinn, Donna M., Zackai, Elaine H., Low, David

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 27 KB

english, 1997

29

Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: Expanding the phenotype of Cumming syndrome

Ming, Jeffrey E., McDonald-McGinn, Donna M., Markowitz, Richard I., Ruchelli, Eduardo, Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 354 KB

english, 1997

30

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III

Gripp, Karen W., Stolle, Catherine A., McDonald-McGinn, Donna M., Markowitz, Richard I., Bartlett, Scott P., Katowitz, James A., Muenke, Maximilian, Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 228 KB

english, 1998

31

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome

Gripp, Karen W., Stolle, Catherine A., Celle, Livija, McDonald-McGinn, Donna M., Whitaker, Linton A., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.16 MB

english, 1999

32

Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting

Ming, Jeffrey E., Blagowidow, Natalie, Knoll, Joan H.M., Rollings, Lori, Fortina, Paolo, McDonald-McGinn, Donna M., Spinner, Nancy B., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 269 KB

english, 2000

33

Five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol

Karen W. Gripp, Charles I. Scott Jr., Linda Nicholson, Donna M. McDonald-McGinn, J. Daniel Ozeran, Marilyn C. Jones, Angela E. Lin, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 196 KB

english, 2002

34

Congenital nystagmus in a (46, XX/45,X) mosaic woman from a family with X-linked congenital nystagmus

David H. Gutmann, Michael L. Brooks, Beverly S. Emanuel, Donna M. McDonald-McGinn, Dr. Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 299 KB

english, 1991

35

Interstitial deletion of 4(q21q25) in a liveborn male

Nancy C. Rose, Adele Schneider, Donna M. McDonald-McGinn, Christine Caserta, Beverly S. Emanuel, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 248 KB

english, 1991

36

Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter

Dr. David H. Gutmann, Elaine H. Zackai, Donna M. McDonald-McGinn, Kenneth H. Fischbeck, John Kamholz

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 329 KB

english, 1991

37

On lumping and splitting: A fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome

Maximilian Muenke, Eduardo D. Ruchelli, Lucy B. Rorke, Donna M. McDonald-McGinn, Michael K. Orlow, Ann Isaacs, Frank J. Craparo, Linda K. Dunn, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 877 KB

english, 1991

38

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

Dr. Deborah A. Driscoll, Nancy B. Spinner, Marcia L. Budarf, Donna M. McDonald-McGinn, Elaine H. Zackai, Rosalie B. Goldberg, Robert J. Shprintzen, Howard M. Saal, Jonathan Zonana, Marilyn C. Jones, J

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 578 KB

english, 1992

39

Tricho-Rhino-Phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion

Feliciano J. Ramos, Donna M. McDonald-McGinn, Beverly S. Emanuel, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 544 KB

english, 1992

40

46, XX, 15p+ documented as dup (17p) by fluorescence in situ hybridization

Nancy B. Spinner, Jaclyn A. Biegel, Lorraine Sovinsky, Donna McDonald-McGinn, Kim Rehberg, Annette H. Parmiter, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 320 KB

english, 1993

41

Saethre-Chotzen syndrome with familial translocation at chromosome 7p22

Cheryl S. Reid, Lydia E. McMorrow, Donna M. McDonald-McGinn, Kimberly J. Grace, Feliciano J. Ramos, Elaine H. Zackai, M. Michael Cohen Jr., Ethylin Wang Jabs

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 350 KB

english, 1993

42

New finding of Schinzel-Giedion syndrome: A case with a malignant sacrococcygeal teratoma

Nathaniel H. Robin, Kimberly Grace, Trevor G. DeSouza, Donna McDonald-McGinn, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 561 KB

english, 1993

43

Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism

Nancy B. Spinner, Kim Rehberg Grace, Nancy L. Owens, Lorraine Sovinsky, Joan E. Pellegrino, Donna McDonald-McGinn, Elaine Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 356 KB

english, 1995

44

Classical Noonan syndrome is not associated with deletions of 22q11

Nathaniel H. Robin, Beatrice Sellinger, Donna McDonald-McGinn, Elaine H. Zackai, Beverly S. Emanuel, Deborah A. Driscoll

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 355 KB

english, 1995

45

Autosomal dominant “Opitz” GBBB syndrome due to a 22q11. 2 deletion

Donna M. McDonald-McGinn, Deborah A. Driscoll, Lynn Bason, Katherine Christensen, David Lynch, Kathleen Sullivan, Douglas Canning, William Zavod, Norman Quinn, Jonathan Rome, Yvonne Paris, Paul Weinbe

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1001 KB

english, 1995

46

Autosomal dominant “Opitz” GBBB syndrome due to a 22q11.2 deletion

Donna M. McDonald-McGinn, Beverly S. Emanuel, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

1996

Language:

english

File:

PDF, 256 KB

english, 1996

47

Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia

Karen W. Gripp, Donna M. McDonald-McGinn, Don La Rossa, David McGain, Noah Federman, Adrianna Vlachos, Bertil E. Glader, Steven E. McKenzie, Jeffrey M. Lipton, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 277 KB

english, 2001

48

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association

Jeffrey E. Ming, Karen L. Russell, Lynn Bason, Donna M. McDonald-McGinn, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 71 KB

english, 2003

49

The 22q11.2 deletion in African-American patients: An underdiagnosed population?

Donna M. McDonald-McGinn, Nancy Minugh-Purvis, Richard E. Kirschner, Abbas Jawad, Melissa K. Tonnesen, Jason R. Catanzaro, Elizabeth Goldmuntz, Deborah Driscoll, Don LaRossa, Beverly S. Emanuel, Elain

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 180 KB

english, 2005

50

Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion

Amy Kao, Juliana Mariani, Donna M. McDonald-McGinn, Melissa K. Maisenbacher, Amy R. Brooks-Kayal, Elaine H. Zackai, David R. Lynch

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 89 KB

english, 2004

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