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81.
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Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. [electronic resource] by
- Gripp, Karen W
- Lin, Angela E
- Nicholson, Linda
- Allen, William
- Cramer, Andrea
- Jones, Kenneth L
- Kutz, Wendy
- Peck, Dawn
- Rebolledo, Michael A
- Wheeler, Patricia G
- Wilson, William
- Al-Rahawan, Mohamad M
- Stabley, Deborah L
- Sol-Church, Katia
Producer: 20070928
In:
American journal of medical genetics. Part A vol. 143A
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82.
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Genome sequencing reveals a deep intronic splicing [electronic resource] by
- Wooderchak-Donahue, Whitney L
- McDonald, Jamie
- Farrell, Andrew
- Akay, Gulsen
- Velinder, Matt
- Johnson, Peter
- VanSant-Webb, Chad
- Margraf, Rebecca
- Briggs, Eric
- Whitehead, Kevin J
- Thomson, Jennifer
- Lin, Angela E
- Pyeritz, Reed E
- Marth, Gabor
- Bayrak-Toydemir, Pinar
Producer: 20191114
In:
Journal of medical genetics vol. 55
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83.
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HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. [electronic resource] by
- Gripp, Karen W
- Lin, Angela E
- Stabley, Deborah L
- Nicholson, Linda
- Scott, Charles I
- Doyle, Daniel
- Aoki, Yoko
- Matsubara, Yoichi
- Zackai, Elaine H
- Lapunzina, Pablo
- Gonzalez-Meneses, Antonio
- Holbrook, Jennifer
- Agresta, Cynthia A
- Gonzalez, Iris L
- Sol-Church, Katia
Producer: 20060307
In:
American journal of medical genetics. Part A vol. 140
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84.
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Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. [electronic resource] by
- Wooderchak-Donahue, Whitney L
- Johnson, Peter
- McDonald, Jamie
- Blei, Francine
- Berenstein, Alejandro
- Sorscher, Michelle
- Mayer, Jennifer
- Scheuerle, Angela E
- Lewis, Tracey
- Grimmer, J Fredrik
- Richter, Gresham T
- Steeves, Marcie A
- Lin, Angela E
- Stevenson, David A
- Bayrak-Toydemir, Pinar
Producer: 20190308
In:
European journal of human genetics : EJHG vol. 26
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85.
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Cardiac transplantation in children with Noonan syndrome. [electronic resource] by
- McCallen, Leslie M
- Ameduri, Rebecca K
- Denfield, Susan W
- Dodd, Debra A
- Everitt, Melanie D
- Johnson, Jonathan N
- Lee, Teresa M
- Lin, Angela E
- Lohr, Jamie L
- May, Lindsay J
- Pierpont, Mary Ella
- Stevenson, David A
- Chatfield, Kathryn C
Producer: 20200713
In:
Pediatric transplantation vol. 23
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86.
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Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. [electronic resource] by
- Lalani, Seema R
- Stockton, David W
- Bacino, Carlos
- Molinari, Laura M
- Glass, Nancy L
- Fernbach, Susan D
- Towbin, Jeffrey A
- Craigen, William J
- Graham, John M
- Hefner, Margaret A
- Lin, Angela E
- McBride, Kim L
- Davenport, Sandra L
- Belmont, John W
Producer: 20040106
In:
American journal of medical genetics. Part A vol. 118A
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87.
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Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. [electronic resource] by
- Lin, Angela E
- Basson, Craig T
- Goldmuntz, Elizabeth
- Magoulas, Pilar L
- McDermott, Deborah A
- McDonald-McGinn, Donna M
- McPherson, Elspeth
- Morris, Colleen A
- Noonan, Jacqueline
- Nowak, Catherine
- Pierpont, Mary Ella
- Pyeritz, Reed E
- Rope, Alan F
- Zackai, Elaine
- Pober, Barbara R
Producer: 20080922
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 10
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88.
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Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. [electronic resource] by
- Lin, Angela E
- Michot, Caroline
- Cormier-Daire, Valerie
- L'Ecuyer, Thomas J
- Matherne, G Paul
- Barnes, Barrett H
- Humberson, Jennifer B
- Edmondson, Andrew C
- Zackai, Elaine
- O'Connor, Matthew J
- Kaplan, Julie D
- Ebeid, Makram R
- Krier, Joel
- Krieg, Elizabeth
- Ghoshhajra, Brian
- Lindsay, Mark E
Producer: 20171019
In:
American journal of medical genetics. Part A vol. 170
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89.
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Risk of Stillbirth for Fetuses With Specific Birth Defects. [electronic resource] by
- Heinke, Dominique
- Nestoridi, Eirini
- Hernandez-Diaz, Sonia
- Williams, Paige L
- Rich-Edwards, Janet W
- Lin, Angela E
- Van Bennekom, Carla M
- Mitchell, Allen A
- Nembhard, Wendy N
- Fretts, Ruth C
- Roberts, Drucilla J
- Duke, C Wes
- Carmichael, Suzan L
- Yazdy, Mahsa M
Producer: 20200415
In:
Obstetrics and gynecology vol. 135
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90.
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Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. [electronic resource] by
- Gripp, Karen W
- Hopkins, Elizabeth
- Sol-Church, Katia
- Stabley, Deborah L
- Axelrad, Marni E
- Doyle, Daniel
- Dobyns, William B
- Hudson, Cindy
- Johnson, John
- Tenconi, Romano
- Graham, Gail E
- Sousa, Ana Berta
- Heller, Raoul
- Piccione, Maria
- Corsello, Giovanni
- Herman, Gail E
- Tartaglia, Marco
- Lin, Angela E
Producer: 20110830
In:
American journal of medical genetics. Part A vol. 155A
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91.
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Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients. [electronic resource] by
- Levin, Mark D
- Saitta, Sulagna C
- Gripp, Karen W
- Wenger, Tara L
- Ganesh, Jaya
- Kalish, Jennifer M
- Epstein, Michael R
- Smith, Rosemarie
- Czosek, Richard J
- Ware, Stephanie M
- Goldenberg, Paula
- Myers, Angela
- Chatfield, Kathryn C
- Gillespie, Matthew J
- Zackai, Elaine H
- Lin, Angela E
Producer: 20190823
In:
American journal of medical genetics. Part A vol. 176
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92.
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Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease. [electronic resource] by
- Toriello, Helga V
- Erick, Miriam
- Alessandri, Jean-Luc
- Bailey, Diana
- Brunetti-Pierri, Nicola
- Cox, Helen
- Fryer, Alan
- Marty, Denise
- McCurdy, Charles
- Mulliken, John B
- Murphy, Helen
- Omlor, Joseph
- Pauli, Richard M
- Ranells, Judith D
- Sanchez-Valle, Amarillis
- Tobiasz, Ana
- Van Maldergem, Lionel
- Lin, Angela E
Producer: 20130805
In:
American journal of medical genetics. Part A vol. 161A
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93.
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Costello syndrome: Clinical phenotype, genotype, and management guidelines. [electronic resource] by
- Gripp, Karen W
- Morse, Lindsey A
- Axelrad, Marni
- Chatfield, Kathryn C
- Chidekel, Aaron
- Dobyns, William
- Doyle, Daniel
- Kerr, Bronwyn
- Lin, Angela E
- Schwartz, David D
- Sibbles, Barbara J
- Siegel, Dawn
- Shankar, Suma P
- Stevenson, David A
- Thacker, Mihir M
- Weaver, K Nicole
- White, Sue M
- Rauen, Katherine A
Producer: 20200803
In:
American journal of medical genetics. Part A vol. 179
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94.
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Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. [electronic resource] by
- Gravholt, Claus H
- Andersen, Niels H
- Conway, Gerard S
- Dekkers, Olaf M
- Geffner, Mitchell E
- Klein, Karen O
- Lin, Angela E
- Mauras, Nelly
- Quigley, Charmian A
- Rubin, Karen
- Sandberg, David E
- Sas, Theo C J
- Silberbach, Michael
- Söderström-Anttila, Viveca
- Stochholm, Kirstine
- van Alfen-van derVelden, Janielle A
- Woelfle, Joachim
- Backeljauw, Philippe F
Producer: 20170831
In:
European journal of endocrinology vol. 177
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95.
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. [electronic resource] by
- Lalani, Seema R
- Safiullah, Arsalan M
- Fernbach, Susan D
- Harutyunyan, Karine G
- Thaller, Christina
- Peterson, Leif E
- McPherson, John D
- Gibbs, Richard A
- White, Lisa D
- Hefner, Margaret
- Davenport, Sandra L H
- Graham, John M
- Bacino, Carlos A
- Glass, Nancy L
- Towbin, Jeffrey A
- Craigen, William J
- Neish, Steven R
- Lin, Angela E
- Belmont, John W
Producer: 20071106
In:
American journal of human genetics vol. 78
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96.
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Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007. [electronic resource] by
- Rauen, Katherine A
- Hefner, Erin
- Carrillo, Kristin
- Taylor, Jill
- Messier, Laure
- Aoki, Yoko
- Gripp, Karen W
- Matsubara, Yoichi
- Proud, Virginia K
- Hammond, Peter
- Allanson, Judith E
- Delrue, Marie-Ange
- Axelrad, Marni E
- Lin, Angela E
- Doyle, Daniel A
- Kerr, Bronwyn
- Carey, John C
- McCormick, Frank
- Silva, Alcino J
- Kieran, Mark W
- Hinek, Aleksander
- Nguyen, Tan T
- Schoyer, Lisa
Producer: 20080522
In:
American journal of medical genetics. Part A vol. 146A
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97.
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Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years. [electronic resource] by
- Lin, Angela E
- Prakash, Siddharth K
- Andersen, Niels H
- Viuff, Mette H
- Levitsky, Lynne L
- Rivera-Davila, Michelle
- Crenshaw, Melissa L
- Hansen, Lars
- Colvin, Mary K
- Hayes, Frances J
- Lilly, Evelyn
- Snyder, Emma A
- Nader-Eftekhari, Shahla
- Aldrich, Melissa B
- Bhatt, Ami B
- Prager, Laura M
- Arenivas, Ana
- Skakkebaek, Anne
- Steeves, Marcie A
- Kreher, Jeffrey B
- Gravholt, Claus H
Producer: 20200803
In:
American journal of medical genetics. Part A vol. 179
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98.
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Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. [electronic resource] by
- Lin, Angela E
- Alexander, Mark E
- Colan, Steven D
- Kerr, Bronwyn
- Rauen, Katherine A
- Noonan, Jacqueline
- Baffa, Jeanne
- Hopkins, Elizabeth
- Sol-Church, Katia
- Limongelli, Giuseppe
- Digilio, Maria Christina
- Marino, Bruno
- Innes, A Micheil
- Aoki, Yoko
- Silberbach, Michael
- Delrue, Marie-Ange
- White, Susan M
- Hamilton, Robert M
- O'Connor, William
- Grossfeld, Paul D
- Smoot, Leslie B
- Padera, Robert F
- Gripp, Karen W
Producer: 20110824
In:
American journal of medical genetics. Part A vol. 155A
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99.
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FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. [electronic resource] by
- Mul, Karlien
- Lemmers, Richard J L F
- Kriek, Marjolein
- van der Vliet, Patrick J
- van den Boogaard, Marlinde L
- Badrising, Umesh A
- Graham, John M
- Lin, Angela E
- Brand, Harrison
- Moore, Steven A
- Johnson, Katherine
- Evangelista, Teresinha
- Töpf, Ana
- Straub, Volker
- Kapetanovic García, Solange
- Sacconi, Sabrina
- Tawil, Rabi
- Tapscott, Stephen J
- Voermans, Nicol C
- van Engelen, Baziel G M
- Horlings, Corinne G C
- Shaw, Natalie D
- van der Maarel, Silvère M
Producer: 20190820
In:
Neurology vol. 91
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100.
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Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care delivery. [electronic resource] by
- Backeljauw, Philippe F
- Bondy, Carolyn
- Chernausek, Steven D
- Cernich, Joseph T
- Cole, David A
- Fasciano, Laura P
- Foodim, Joan
- Hawley, Scott
- Hong, David S
- Knickmeyer, Rebecca C
- Kruszka, Paul
- Lin, Angela E
- Lippe, Barbara M
- Lorigan, Gary A
- Maslen, Cheryl L
- Mauras, Nelly
- Page, David C
- Pemberton, Victoria L
- Prakash, Siddharth K
- Quigley, Charmian A
- Ranallo, Kelly C
- Reiss, Allan L
- Sandberg, David E
- Scurlock, Cindy
- Silberbach, Michael
Producer: 20160519
In:
American journal of medical genetics. Part A vol. 167A
Availability: No items available.
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