“Essentially” pure trisomy 3q27 → qter: Further delineation of the partial trisomy 3q phenotype

JOURNAL ARTICLE published November 2009 in American Journal of Medical Genetics Part A

Authors: Vera Grossmann | Doris Müller | Wilfried Müller | Friedrich Fresser | Martin Erdel | Andreas R. Janecke | Johannes Zschocke | Gerd Utermann | Dieter Kotzot

American Journal of Medical Genetics Part A: Volume 149A, Number 11, November 2009

JOURNAL ARTICLE published November 2009 in American Journal of Medical Genetics Part A

Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)

JOURNAL ARTICLE published April 2010 in American Journal of Medical Genetics Part A

Authors: Lilia Moreira | Albert Schinzel | Alessandra Baumer | Paula Pinto | Fátima Góes | Maria de Lourdes Falcão | Ana Luiza Barbosa | Mariluce Riegel

Callosal agenesis and left ventricular hypertrabeculation/noncompaction

JOURNAL ARTICLE published May 2010 in American Journal of Medical Genetics Part A

Authors: Josef Finsterer

SACGHS mulls recommendations for genetics training

JOURNAL ARTICLE published April 2010 in American Journal of Medical Genetics Part A

Table of Contents, Volume 149A, Number 8, August 2009

JOURNAL ARTICLE published August 2009 in American Journal of Medical Genetics Part A

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family

JOURNAL ARTICLE published April 2009 in American Journal of Medical Genetics Part A

Authors: Kathryn P. Burdon | Shane R. Durkin | Mary Burke | Matthew Edwards | John Pater | Tania Straga | Jozef Gecz | Jan E. Liebelt | Jamie E. Craig

Terminal osseous dysplasia and pigmentary defects in a Brazilian girl

JOURNAL ARTICLE published 15 October 2008 in American Journal of Medical Genetics Part A

Authors: Nancy Mizue Kokitsu‐Nakata | Luís Fernando Benedito Bérgamo Antunes | Maria Leine Guion‐Almeida

Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (‐TTAGGG‐)n sequence: Description of the first patient

JOURNAL ARTICLE published May 2009 in American Journal of Medical Genetics Part A

Authors: L. Rodríguez | M.L. Martínez‐Fernández | M.I. Aceña | S. López Mendoza | L. Martín Fumero | M. Rodríguez de Alba | J. Gallego‐Merlo | M.L. Martínez‐Frías

Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 → pter and monosomy 3p26.3 → pter in seven members

JOURNAL ARTICLE published 15 December 2008 in American Journal of Medical Genetics Part A

Authors: Anna Lisa Nucaro | Marta Meloni | Tiziana Pisano | Paola Melis | Elena Rossi | Rossano Rossino | Simona Corona | Mario Loi | Francesco Achena | Orsetta Zuffardi | Carlo Cianchetti

Clinical and molecular characterization of a patient with Langer–Giedion syndrome and mosaic del(8)(q22.3q24.13)

JOURNAL ARTICLE published 15 December 2008 in American Journal of Medical Genetics Part A

Authors: Alan L. Shanske | Ankita Patel | Sou Saukam | Brynn Levy | Hermann‐Josef Lüdecke

JOURNAL ISSUE published December 2005 in American Journal of Medical Genetics Part A

Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies

JOURNAL ARTICLE published March 2009 in American Journal of Medical Genetics Part A

Authors: Shay Ben‐Shachar | Bhattacharjee M. Bidwa | Lorraine Potocki | Seema R. Lalani

Encomium to accompany “Living History—Biography: An Undifferentiated Pediatrician”

JOURNAL ARTICLE published March 2009 in American Journal of Medical Genetics Part A

Authors: William G. Wilson

Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association

JOURNAL ARTICLE published March 2009 in American Journal of Medical Genetics Part A

Authors: Ali Al Kaissi | Farid Ben Chehida | Maher Ben Ghachem | Franz Grill | Klaus Klaushofer

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment

JOURNAL ARTICLE published April 2009 in American Journal of Medical Genetics Part A

Authors: Dianne F. Newbury | Pamela C. Warburton | Natalie Wilson | Elena Bacchelli | Simona Carone | Janine A. Lamb | Elena Maestrini | Emanuela V. Volpi | Shehla Mohammed | Gillian Baird | Anthony P. Monaco | The International Molecular Genetic Study of Autism Consortium (IMGSAC)

American Journal of Medical Genetics Part A: Volume 149A, Number 3, March 2009

JOURNAL ARTICLE published March 2009 in American Journal of Medical Genetics Part A

Fragile X full mutation alleles composed of few alleles: Implications for CGG repeat expansion

JOURNAL ARTICLE published January 2008 in American Journal of Medical Genetics Part A

Authors: Sarah L. Nolin | Xiao‐hua Ding | George E. Houck | W. Ted Brown | Carl Dobkin

Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba

JOURNAL ARTICLE published 15 January 2008 in American Journal of Medical Genetics Part A

Authors: M.Cristina Digilio | Rossella Capolino | Bruno Dallapiccola

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata

JOURNAL ARTICLE published 15 April 2008 in American Journal of Medical Genetics Part A

Authors: Michelle Nino | Claudia Matos‐Miranda | Momoe Maeda | Li Chen | Judith Allanson | Christine Armour | Carol Greene | Majeeda Kamaluddeen | Debra Rita | Livija Medne | Elaine Zackai | Sahar Mansour | Andrea Superti‐Furga | Amy Lewanda | Michael Bober | Kenneth Rosenbaum | Nancy Braverman