Prevalence of Café-au-Lait Spots in children with solid tumors

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)

(2014) Katharina Wimmer et al.   JOURNAL OF MEDICAL GENETICS

Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

(2013) Douglas R. Stewart et al.   GENETICS IN MEDICINE

Dermatologic manifestations of ataxia-telangiectasia syndrome

(2013) Shoshana Greenberger et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Breast cancer and other neoplasms in women with neurofibromatosis type 1: A retrospective review of cases in the Detroit metropolitan area

(2012) X. Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Risk of benign tumours of nervous system and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study

(2012) O O Seminog et al.   BRITISH JOURNAL OF CANCER

Osteosarcoma Following Growth Hormone Therapy in Recurrent Acute Lymphoblastic Leukemia and Rapadilino Syndrome

(2012) Claudio Sandoval et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies

(2010) Massimo Carella et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations

(2010) Katherine A. Rauen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ring/marker chromosome derived from chromosome 7 in childhood acute megakaryoblastic leukemia with monosomy 7

(2010) Hisanori Fujino et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Non-Hodgkin Lymphoma in a Patient With Cardiofaciocutaneous Syndrome

(2010) Akira Ohtake et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Rothmund-Thomson syndrome

(2010) Lidia Larizza et al.   Orphanet Journal of Rare Diseases

The mutation spectrum in RECQL4 diseases

(2008) H Annika Siitonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prevalence and Patterns of Morphological Abnormalities in Patients With Childhood Cancer

(2008) Johannes H. M. Merks et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

McCune-Albright syndrome

(2008) Claudia E Dumitrescu et al.   Orphanet Journal of Rare Diseases