Volume 170; Issue 4

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American Journal of Medical Genetics Part A
Volume 170; Issue 4

American Journal of Medical Genetics Part A

Volume 170; Issue 4

1

Table of Contents, Volume 170A, Number 4, April 2016

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 246 KB

english, 2016

2

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R

Atwal, Paldeep Singh, Blease, Sophie, Braxton, Alicia, Graves, Julia, He, Weimin, Person, Richard, Slattery, Leah, Bernstein, Jonathan Adam, Hudgins, Louanne

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 619 KB

english, 2016

3

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome

Sari, Erkan, Bereket, Abdullah, Yeşilkaya, Ediz, Baş, Firdevs, Bundak, Rüveyde, Aydın, Banu Küçükemre, Darcan, Şükran, Dündar, Bumin, Büyükinan, Muammer, Kara, Cengiz, Adal, Erdal, Akıncı, Ayşehan, At

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Fichier:

PDF, 345 KB

2016

4

Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit

Akizawa, Yoshika, Miyashita, Toshiyuki, Sasaki, Ryo, Nagata, Reiko, Aoki, Ryoko, Ishitani, Ken, Nagashima, Yoji, Matsui, Hideo, Saito, Kayoko

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 979 KB

english, 2016

5

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

Ha, Thuong T., Sadleir, Lynette G., Mandelstam, Simone A., Paterson, Sarah J., Scheffer, Ingrid E., Gecz, Jozef, Corbett, Mark A.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 766 KB

english, 2016

6

9p13.1p13.3 interstitial deletion: A case report and further delineation of a rare condition

Crone, Megan, Thomas, Mary Ann

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 609 KB

english, 2016

7

Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor

McClelland, Jessie, Burgess, Bronwyn, Crock, Patricia, Goel, Himanshu

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 315 KB

english, 2016

8

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

Gomez-Ospina, Natalia, Bernstein, Jonathan A.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 119 KB

english, 2016

9

Letter to the editor: Response to two recent articles regarding achondroplasia

Pauli, Richard M.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 55 KB

english, 2016

10

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

Ejaz, Resham, Qin, Wen, Huang, Lijia, Blaser, Susan, Tetreault, Martine, Hartley, Taila, Boycott, Kym M., Carter, Melissa T.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 494 KB

english, 2016

11

Response: “Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy” and “is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?”

White, Klane K., Savarirayan, Ravi, Goldberg, Michael J., MacKenzie, William, Bompadre, Viviana, Bober, Michael B., Cho, Tae-Joon, Hoover-Fong, Julie, Parnell, Shawn E., Raggio, Cathleen, Spencer, Sam

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 63 KB

english, 2016

12

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing

Mackenroth, Luisa, Fischer-Zirnsak, Björn, Egerer, Johannes, Hecht, Jochen, Kallinich, Tilmann, Stenzel, Werner, Spors, Birgit, von Moers, Arpad, Mundlos, Stefan, Kornak, Uwe, Gerhold, Kerstin, Horn,

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2016

13

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

Watanabe, Satoshi, Shimizu, Kenji, Ohashi, Hirofumi, Kosaki, Rika, Okamoto, Nobuhiko, Shimojima, Keiko, Yamamoto, Toshiyuki, Chinen, Yasutsugu, Mizuno, Seiji, Dowa, Yuri, Shiomi, Natsuko, Toda, Yoshih

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 420 KB

english, 2016

14

Evaluation of proton-coupled folate transporter ( SLC46A1 ) polymorphisms as risk factors for neural tube defects and oral clefts

VanderMeer, Julia E., Carter, Tonia C., Pangilinan, Faith, Mitchell, Adam, Kurnat-Thoma, Emma, Kirke, Peadar N., Troendle, James F., Molloy, Anne M., Munger, Ronald G., Feldkamp, Marcia L., Mansilla,

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 152 KB

english, 2016

15

Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations

Ayub, Seemi, Gadji, Macoura, Krabchi, Kada, Côté, Sylvie, Gekas, Jean, Maranda, Bruno, Drouin, Régen

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 751 KB

english, 2016

16

Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature

Canton, Ana Pinheiro Machado, Nishi, Mirian Yumie, Furuya, Tatiane Katsue, Roela, Rosimeire Aparecida, Jorge, Alexander Augusto Lima

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 344 KB

english, 2016

17

Long-term treatment of neurofibromatosis 1 with ketotifen. A report of three cases

Rodriguez-Jimenez, Pedro, Chicharro, Pablo, Muñoz, Elia, Dauden, Esteban

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 360 KB

english, 2016

18

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A ( FLNA ) mutation

Lah, Melissa, Niranjan, Tejasvi, Srikanth, Sujata, Holloway, Lynda, Schwartz, Charles E., Wang, Tao, Weaver, David D.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2016

19

CLTC as a clinically novel gene associated with multiple malformations and developmental delay

DeMari, Joseph, Mroske, Cameron, Tang, Sha, Nimeh, Joseph, Miller, Ryan, Lebel, Robert R.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 1.16 MB

english, 2016

20

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

Grams, Sarah E., Argiropoulos, Bob, Lines, Matthew, Chakraborty, Pranesh, Mcgowan-Jordan, Jean, Geraghty, Michael T., Tsang, Marilyn, Eswara, Marthand, Tezcan, Kamer, Adams, Kelly L., Linck, Leesa, Hi

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 596 KB

english, 2016

21

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature

Bunyan, David J., Baffico, Maria, Capone, Lucia, Vannelli, Silvia, Iughetti, Lorenzo, Schmitt, Sébastien, Taylor, Emma-Jane, Herridge, Adam A., Shears, Deborah, Forabosco, Antonino, Coviello, Domenico

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 318 KB

english, 2016

22

Inaccuracy of non-invasive prenatal screening demands cautious counsel and follow-up

Tonk, Vijay S., Wilson, Golder N.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 61 KB

english, 2016

23

Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability

Scheps, Karen G., Francipane, Liliana, Nevado, Julián, Basack, Nora, Attie, Myriam, Bergonzi, María Fernanda, Cerrone, Gloria E., Lapunzina, Pablo, Varela, Viviana

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 803 KB

english, 2016

24

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

Rosti, Rasim O., Dikoglu, Esra, Zaki, Maha S., Abdel-Salam, Ghada, Makhseed, Nawal, Sese, Jordan C., Musaev, Damir, Rosti, Basak, Harbert, Mary J., Jones, Marilyn C., Vaux, Keith K., Gleeson, Joseph G

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 930 KB

english, 2016

25

A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia

Shimojima, Keiko, Okamoto, Nobuhiko, Yamamoto, Toshiyuki

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 659 KB

english, 2016

26

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature

Salter, Claire G., Baralle, Diana, Collinson, Morag N., Self, James E.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 618 KB

english, 2016

27

FTO variant associated with malformation syndrome

Rohena, Luis, Lawson, Michelle, Guzman, Edwin, Ganapathi, Mythily, Cho, Megan T., Haverfield, Eden, Anyane-Yeboa, Kwame

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 263 KB

english, 2016

28

Stippled calcification in an infant with a recurrent SRCAP gene mutation

Yagi, Hiroko, Takagi, Masaki, Narumi, Satoshi, Hasegawa, Tomonobu, Nishimura, Gen, Hasegawa, Yukihiro

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 400 KB

english, 2016

29

Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications

Mekkawy, Mona K., Mazen, Inas M., Kamel, Alaa K., Vater, Inga, Zaki, Maha S.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 1.52 MB

english, 2016

30

Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention

Subramaniam, Akila, Jacobs, Adam P., Tang, Ying, Neely, Cherry, Philips, Joseph B., Biggio, Joseph R., Robin, Nathaniel H., Edwards, Rodney K.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 268 KB

english, 2016

31

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease

Gottesman, Gary S., Madson, Katherine L., McAlister, William H., Nenninger, Angela, Wenkert, Deborah, Mumm, Steven, Whyte, Michael P.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 1.80 MB

english, 2016

32

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia

Takenouchi, Toshiki, Okamoto, Nobuhiko, Ida, Shinobu, Uehara, Tomoko, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 350 KB

english, 2016

33

Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome

Halayem, Soumeyya, Hamza, Mariem, Maazoul, Faouzi, Ben Turkia, Hadhemi, Touati, Maissa, Tebib, Neji, Mrad, Ridha, Bouden, Asma

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 291 KB

english, 2016

34

Trisomy 4 mosaicism: Delineation of the phenotype

Bouman, Arjan, van der Kevie-Kersemaekers, Anne-Marie, Huijsdens-van Amsterdam, Karin, Dahhan, Nordin, Knegt, Lia, Vansenne, Fleur, Cobben, Jan Maarten

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 2.65 MB

english, 2016

35

Publication schedule for 2016

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 25 KB

english, 2016

36

Precision medicine company takes aim at genetically based epilepsy

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 125 KB

english, 2016

37

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

38

Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13?

Kosho, Tomoki, Carey, John C.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 63 KB

english, 2016

39

In this issue

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 76 KB

english, 2016

40

Cover Image, Volume 170A, Number 4, April 2016

Scheps, Karen G., Francipane, Liliana, Nevado, Julián, Basack, Nora, Attie, Myriam, Bergonzi, María Fernanda, Cerrone, Gloria E., Lapunzina, Pablo, Varela, Viviana

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Fichier:

PDF, 16.27 MB

2016

41

Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study

Meyer, Robert E., Liu, Gang, Gilboa, Suzanne M., Ethen, Mary K., Aylsworth, Arthur S., Powell, Cynthia M., Flood, Timothy J., Mai, Cara T., Wang, Ying, Canfield, Mark A.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 582 KB

english, 2016

42

Is a prenatal diagnosis detrimental to the survival of a fetus with trisomy 18?

Morris, Joan K.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 54 KB

english, 2016

43

Muenke syndrome: An international multicenter natural history study

Kruszka, Paul, Addissie, Yonit A., Yarnell, Colin M. P., Hadley, Donald W., Guillen Sacoto, Maria J., Platte, Petra, Paelecke, Yvonne, Collmann, Hartmut, Snow, Nicole, Schweitzer, Tilmann, Boyadjiev,

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 843 KB

english, 2016

44

Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

Glassford, Megan R., Rosenfeld, Jill A., Freedman, Alexa A., Zwick, Michael E., Mulle, Jennifer G.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 573 KB

english, 2016

45

12th International CHARGE syndrome conference proceedings

Martin, Donna M., Salem-Hartshorne, Nancy, Hartshorne, Timothy S., Scacheri, Peter C., Hefner, Margaret A.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 176 KB

english, 2016

46

Spectrum of gene variants linked to cystic fibrosis in nonwhites

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 89 KB

english, 2016