Volume 143A; Issue 24

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American Journal of Medical Genetics Part A
Volume 143A; Issue 24

American Journal of Medical Genetics Part A

Volume 143A; Issue 24

1

Al-Awadi/Raas-Rothschild syndrome: Two new cases and review

Fortunato Lonardo, Giovanna Sabba, Daniela Varela Luquetti, Matteo Della Monica, Gioacchino Scarano

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 164 KB

english, 2007

2

Successful neurological outcome of a child with classical phenylketonuria and acute lymphoblastic leukemia: A 7-year follow-up

Cheng Wang, Carol S. Camfield, Conrad V. Fernandez, Terry Hurley, Karen Campbell

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 77 KB

english, 2007

3

Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis

Jia-Chi Wang, Michelle Steinraths, Linda Dang, Brenda Lomax, Patrice Eydoux, Tracy Stockley, Siu-Li Yong, Margot I. Van Allen

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 200 KB

english, 2007

4

Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria

Mieke M. van Haelst, Peter J. Scambler, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 236 KB

english, 2007

5

A hitchhiker's guide to the older literature of descriptive teratology

J. Bruce Beckwith

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 146 KB

english, 2007

6

Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

Ute Moog, Filip Roelens, Geert R. Mortier, Han Sijstermans, Mary Kelly, Gerald F. Cox, Caroline D. Robson, Virginia E. Kimonis

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 388 KB

english, 2007

7

Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA

Zöe Powis, Sung-Hae L. Kang, M. Lance Cooper, Ankita Patel, Daniel A. Peiffer, Anne Hawkins, Randall Heidenreich, Kevin L. Gunderson, Sau W. Cheung, Robert P. Erickson

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 206 KB

english, 2007

8

Pai syndrome: Report of seven South American patients

Maria Leine Guion-Almeida, Cecília Mellado, Constanza Beltrán, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 489 KB

english, 2007

9

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis

E. Wu, K. Vargevik, A.M. Slavotinek

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 128 KB

english, 2007

10

Multifocal rapidly involuting congenital hemangioma: A link to chorangioma

J.B. Mulliken, J. Bischoff, H.P.W. Kozakewich

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 354 KB

english, 2007

11

Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases

Bridget M. Riley, Jeffrey C. Murray

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 99 KB

english, 2007

12

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene

Jules G. Leroy, Lieve Nuytinck, Jo Lambert, Jean-Marie Naeyaert, Geert R. Mortier

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 288 KB

english, 2007

13

Molecular characterization of HOXA13 polyalanine expansion proteins in hand–foot–genital syndrome

Boris Utsch, Colleen D. McCabe, Kenneth Galbraith, Ricardo Gonzalez, Mark Born, Jörg Dötsch, Michael Ludwig, Heiko Reutter, Jeffrey W. Innis

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 270 KB

english, 2007

14

Longitudinal assessment of cognitive characteristics in Costello syndrome

Marni E. Axelrad, Linda Nicholson, Deborah L. Stabley, Katia Sol-Church, Karen W. Gripp

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 161 KB

english, 2007

15

Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis

Holly H. Ardinger, Kimberly A. Horii, Michael L. Begleiter

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 259 KB

english, 2007

16

Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge–Weber and Klippel–Trenaunay syndromes

Bryan D. Hall, Ronald G. Cadle, Shannon M. Morrill-Cornelius, Carolyn A. Bay

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 311 KB

english, 2007

17

Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM)

Helga V. Toriello, John B. Mulliken

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 57 KB

english, 2007

18

Terminological inexactitude

Mason Barr, Jr.

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 73 KB

english, 2007

19

Oro-facial-digital syndrome IX with severe microcephaly: A new variant in a genetically isolated population

Robert P. Erickson, John B. Bodensteiner

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 149 KB

english, 2007

20

Visualization of human prenatal development by magnetic resonance imaging (MRI)

Kohei Shiota, Shigehito Yamada, Tomoko Nakatsu-Komatsu, Chigako Uwabe, Katsumi Kose, Yoshimasa Matsuda, Tomoyuki Haishi, Shinobu Mizuta, Tetsuya Matsuda

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 222 KB

english, 2007

21

Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disorders

Nina Ervalahti, Marit Korkman, Åse Fagerlund, Ilona Autti-Rämö, Leena Loimu, H. Eugene Hoyme

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 267 KB

english, 2007

22

Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union

Roseli Maria Zechi-Ceide, Maria Leine Guion-Almeida, Sthella Zanchetta, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 407 KB

english, 2007

23

Embryogenesis of holoprosencephaly

Kohei Shiota, Shigehito Yamada, Munekazu Komada, Makoto Ishibashi

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 298 KB

english, 2007

24

Acrofacial dysostosis syndrome type Rodriguez: Prenatal diagnosis and autopsy findings

David Sermer, Nada Quercia, Karen Chong, David Chitayat

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 158 KB

english, 2007

25

Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings

David Chitayat, Patrick Shannon, Sarah Keating, Ants Toi, Susan Blaser, Tami Friedberg, Andrea Superti-Furga, Karen Chong, Sheila Unger

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 330 KB

english, 2007

26

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients

Julie C. Sapp, Joyce T. Turner, Jiddeke M. van de Kamp, Fleur S. van Dijk, R. Brian Lowry, Leslie G. Biesecker

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 740 KB

english, 2007

27

A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities

Célia M. Giacheti, Sthella Zanchetta, Elizandra Maranhe, Tatiana V. Cassab, Dagma V. Abramides, Deise H. Souza, Luciana P.M. De-Vitto, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 159 KB

english, 2007

28

A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients

Robert P. Erickson, Teresita Díaz de Ståhl, Carl E.G. Bruder, Jan P. Dumanski

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 298 KB

english, 2007

29

Two siblings with an unusual nasal malformation: Further instances of craniorhiny?

Melissa M. Lees, Loshan Kangesu, Per Hall, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 223 KB

english, 2007

30

Cyclopia, aprosencephaly, and acardiac twinning: Is hypoxia-ischemia a unifying mechanism?

Joseph R. Siebert

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 266 KB

english, 2007

31

Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression–sirenomelia spectrum

Sara M. Duesterhoeft, Linda M. Ernst, Joseph R. Siebert, Raj P. Kapur

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 269 KB

english, 2007

32

Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15

Adam C. Smith, Cheryl Shuman, David Chitayat, Leslie Steele, Peter N. Ray, Jaqueline Bourgeois, Rosanna Weksberg

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 226 KB

english, 2007

33

Complementary and alternative medicine (CAM) in genetics

Bruce A. Buehler

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 78 KB

english, 2007

34

Oral–facial–digital syndromes: Review and diagnostic guidelines

Fiorella Gurrieri, Brunella Franco, Helga Toriello, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 204 KB

english, 2007

35

Obesity: Genetic, molecular, and environmental aspects

Lewis A. Barness, John M. Opitz, Enid Gilbert-Barness

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 361 KB

english, 2007

36

Genetics of sexual development: A new paradigm

Stan R. Blecher, Robert P. Erickson

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 388 KB

english, 2007

37

Evidence that macrocephaly and obesity may be dependent traits

Helga Toriello, Minta Mathew, Vivian Valdmanis

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 72 KB

english, 2007

38

Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

Robert L. Conway, Barry D. Pressman, William B. Dobyns, Moise Danielpour, John Lee, Pedro A. Sanchez-Lara, Merlin G. Butler, Elaine Zackai, Lindsey Campbell, Sulagna C. Saitta, Carol L. Clericuzio, Je

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 803 KB

english, 2007

39

Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus

Jaime L. Frías, Juan P. Frías, Patricio A. Frías, María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 94 KB

english, 2007

40

Descent, lineage, and pedigree of the Trojans in Homer's Iliad

Euterpe Bazopoulou-Kyrkanidou

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 78 KB

english, 2007

41

The morphogenesis of wormian bones: A study of craniosynostosis and purposeful cranial deformation

Pedro A. Sanchez-Lara, John M. Graham Jr, Anne V. Hing, John Lee, Michael Cunningham

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 260 KB

english, 2007

42

Brain anomalies in encephalocraniocutaneous lipomatosis

Ute Moog, Marilyn C. Jones, David H. Viskochil, Alain Verloes, Margot I. Van Allen, William B. Dobyns

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 245 KB

english, 2007

43

Regional analysis on the occurrence of oral clefts in South America

F.A. Poletta, E.E. Castilla, I.M. Orioli, J.S. Lopez-Camelo

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 234 KB

english, 2007

44

Emerging infections and pregnancy: Assessing the impact on the embryo or fetus

Sonja A. Rasmussen, Edward B. Hayes, Denise J. Jamieson, Daniel R. O'Leary

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 107 KB

english, 2007

45

Muenke syndrome (FGFR3-related craniosynostosis): Expansion of the phenotype and review of the literature

Emily S. Doherty, Felicitas Lacbawan, Donald W. Hadley, Carmen Brewer, Christopher Zalewski, H. Jeff Kim, Beth Solomon, Kenneth Rosenbaum, Demetrio L. Domingo, Thomas C. Hart, Brian P. Brooks, LaDonna

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 346 KB

english, 2007

46

Development: Clinical and evolutionary considerations

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 375 KB

english, 2007

47

Cerebro-oculo-nasal syndrome: 13 new Brazilian cases

Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 922 KB

english, 2007

48

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication

Laura Bernardini, Marco Castori, Anna Capalbo, Vahe Mokini, Rita Mingarelli, Paolo Simi, Alice Bertuccelli, Antonio Novelli, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 347 KB

english, 2007

49

A study of 534 fetal pathology cases from prenatal diagnosis referrals analyzed from 1989 through 2000

Anna Laury, Pedro A. Sanchez-Lara, Samuel Pepkowitz, John M. Graham Jr.

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 243 KB

english, 2007

50

Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3

Dominic Furniss, Paul Critchley, Henk Giele, Andrew O.M. Wilkie

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 280 KB

english, 2007

51

X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate

Jane W. Kimani, Min Shi, Sandra Daack-Hirsch, Kaare Christensen, Danilo Moretti-Ferreira, Mary L. Marazita, L. Leigh Field, John W. Canady, Jeffrey C. Murray

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 138 KB

english, 2007

52

The face of Joubert syndrome: A study of dysmorphology and anthropometry

Stephen R. Braddock, Kimberly M. Henley, Bernard L. Maria

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 361 KB

english, 2007

53

Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies

Anne M. Slavotinek, Barbara Warmerdam, Angela E. Lin, Gary M. Shaw

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 115 KB

english, 2007

54

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

Andrea C. Stachon, Berivan Baskin, Adam C. Smith, Andrea Shugar, Cheryl Cytrynbaum, Leona Fishman, Roberto Mendoza-Londono, Regan Klatt, Ahmed Teebi, Peter N. Ray, Rosanna Weksberg

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 258 KB

english, 2007

55

A patient with TCIRG1-related infantile osteopetrosis presenting with congenital anomalies: Chance association or a case for pleiotropy?

Robert L. Conway, Rena E. Falk

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 122 KB

english, 2007

56

Status of the human malformation map: 2007

John C. Carey, David H. Viskochil

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 290 KB

english, 2007

57

Clinical epidemiologic study of holoprosencephaly in South America

Iêda M. Orioli, Eduardo E. Castilla

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 152 KB

english, 2007

58

Introductory comments: M. Michael Cohen Jr. Festschrift

John C. Carey, Robert P. Erickson

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 97 KB

english, 2007

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