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Retinoblastoma with an unusual presentation in a child with polydactyly. Clinical associations and genetic implications
ACTA OPHTHALMOLOGICA SCANDINAVICA
The number and distribution of Merkel cells in rudimentary polydactyly
DERMATOLOGY
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism
GENETIC COUNSELING
Short rib-polydactyly syndrome type III: Comparison of ultrasound, radiology, and pathology findings
FETAL DIAGNOSIS AND THERAPY
Hypoplastic left heart and postaxial polydactyly
CLINICAL DYSMORPHOLOGY
Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar featuresin his 36-year-old father
CLINICAL DYSMORPHOLOGY
Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings
CLINICAL DYSMORPHOLOGY
Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome
CLINICAL DYSMORPHOLOGY
Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
DACH: Genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homologue
GENOMICS
Serotonergic heterotypic sprouting in the unilaterally dopamine-depleted mouse neostriatum
DEVELOPMENTAL NEUROSCIENCE
Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings
PRENATAL DIAGNOSIS
Laurin-Sandrow syndrome with additional associated manifestations
AMERICAN JOURNAL OF MEDICAL GENETICS
Clinical aspects of defects in the determination of laterality
AMERICAN JOURNAL OF MEDICAL GENETICS
Liver fibrocystic disease and polydactyly: Proposal of a new syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
A novel acropectoral syndrome maps to chromosome 7q36
JOURNAL OF MEDICAL GENETICS
A spontaneous mouse mutation, mesenchymal dysplasia (mes), is caused by a deletion of the most C-terminal cytoplasmic domain of patched (ptc)
DEVELOPMENTAL BIOLOGY
Polydactyly of the feet in children: suggestions for surgical management
BRITISH JOURNAL OF PLASTIC SURGERY
New case of Beemer-Langer syndrome
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes
EUROPEAN JOURNAL OF HUMAN GENETICS
Mapping the Naked Neck (NA) and Polydactyly (PO) mutants of the chicken with microsatellite molecular markers
GENETICS SELECTION EVOLUTION
Varadi-Papp syndrome: report of a case
CLINICAL DYSMORPHOLOGY
Amniotic band sequence versus the autosomal recessive microcephaly, facialclefting, and preaxial polydactyly syndrome
CLINICAL DYSMORPHOLOGY
Pseudotrisomy 13 syndrome in siblings
CLINICAL DYSMORPHOLOGY
Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation
DEVELOPMENT
Polydactyly and other features of the manus of the vaquita, Phocoena sinus
MARINE MAMMAL SCIENCE
Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating
JOURNAL OF PERINATAL MEDICINE
"Face to face": a new method for the treatment of polydactyly of the thumbthat maximises the use of available soft tissue
SCANDINAVIAN JOURNAL OF PLASTIC AND RECONSTRUCTIVE SURGERY AND HAND SURGERY
Ulnar dimelia: imaging modalities and surgical implications
JOURNAL DE RADIOLOGIE
Isolated polydactyly: prenatal diagnosis and perinatal outcome
PRENATAL DIAGNOSIS
Otolaryngologic aspects of oral-facial-digital syndrome
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review
AMERICAN JOURNAL OF MEDICAL GENETICS
Newly recognised craniosynostosis syndrome that does not map to known disease loci
AMERICAN JOURNAL OF MEDICAL GENETICS
Bardet-Biedl syndrome type 3 in an Iranian family: Clinical study and confirmation of disease localization
AMERICAN JOURNAL OF MEDICAL GENETICS
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome(THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family
AMERICAN JOURNAL OF MEDICAL GENETICS
Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly:Hydrolethalus or acrocallosal syndrome?
AMERICAN JOURNAL OF MEDICAL GENETICS
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs
AMERICAN JOURNAL OF MEDICAL GENETICS
Macrocephaly-cutis marmorata telangiectatica congenita without cutis marmorata?
AMERICAN JOURNAL OF MEDICAL GENETICS
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder
AMERICAN JOURNAL OF MEDICAL GENETICS
Skeletal anomalies
CLINICS IN PERINATOLOGY
Unusual congenital deformities of the lower limb in two calves
NEW ZEALAND VETERINARY JOURNAL
Acute cerebellar hemorrhage in a patient with Klinefelter syndrome: XXY karyotype obtained postmortem from cells from pericardial fluid
JOURNAL OF FORENSIC SCIENCES
glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development
DEVELOPMENTAL BIOLOGY
Suppression of polydactyly of the Gli3 mutant (extra toes) by delta EF1 homozygous mutation
DEVELOPMENT GROWTH & DIFFERENTIATION
Reconstruction of pulp defect using a free finger-pulp flap from an excised extra digit
BRITISH JOURNAL OF PLASTIC SURGERY
Fetal polydactyly diagnosis during early pregnancy: Clinical applications
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
Surgical correction of polydactyly in a camel (Camelus dromedarius)
JOURNAL OF ZOO AND WILDLIFE MEDICINE
An apparently new acrocraniofacial syndrome with cranial nerve and visceral anomalies
CLINICAL DYSMORPHOLOGY
Congenital cataract and multisystem disorders
EYE
Physical and genetic interactions between Alx4 and Cart1
DEVELOPMENT
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23
GENOMICS
Palmar and plantar pads and flexion creases of genetic polydactyly mice (Pdn)
JOURNAL OF MORPHOLOGY
Gli genes and limb development
CELL AND TISSUE RESEARCH
A case of mirror hand deformity with a 17-year postoperative follow up - Case report
SCANDINAVIAN JOURNAL OF PLASTIC AND RECONSTRUCTIVE SURGERY AND HAND SURGERY
Congenital bone malformations in patients with neurofibromatosis type 1 (Nf1)
JOURNAL OF PEDIATRIC ORTHOPAEDICS
Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2
JOURNAL OF CRANIOFACIAL GENETICS AND DEVELOPMENTAL BIOLOGY
Ellis-van Creveld syndrome: Examination at 15 weeks' gestation
PRENATAL DIAGNOSIS
Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation
PRENATAL DIAGNOSIS
Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36
AMERICAN JOURNAL OF MEDICAL GENETICS
Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia insibs
AMERICAN JOURNAL OF MEDICAL GENETICS
Trisomy 2p syndrome: A fetus with anencephaly and postaxial polydactyly
AMERICAN JOURNAL OF MEDICAL GENETICS
Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect
AMERICAN JOURNAL OF MEDICAL GENETICS
Dandy-Walker malformation with postaxial polydactyly: Further evidence forautosomal recessive inheritance
AMERICAN JOURNAL OF MEDICAL GENETICS
Skeletal malformations in fetuses with Meckel syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia
AMERICAN JOURNAL OF MEDICAL GENETICS
Complex camptopolydactyly: An unusual hand malformation
AMERICAN JOURNAL OF MEDICAL GENETICS
Thumb/hallux duplication and preaxial polydactyly type I
AMERICAN JOURNAL OF MEDICAL GENETICS
Polydactyly of the foot
ORTHOPADE
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36
JOURNAL OF MEDICAL GENETICS
Short rib-polydactyly syndrome: more evidence of a continuous spectrum
CLINICAL GENETICS
MCKUSICK-KAUFMAN-SYNDROME - PRENATAL-DIAGNOSIS AND CLINICAL MANAGEMENT
Prenatal. neonatal med.
EXPRESSION PROFILE OF GLI FAMILY MEMBERS AND SHH IN NORMAL AND MUTANTMOUSE LIMB DEVELOPMENT
Developmental dynamics
PRENATAL-GROWTH AND POSTNATAL-GROWTH RETARDATION, SCALING SKIN, MODERATE MENTAL-RETARDATION AND QUADRISPASTICITY, HYPOSPADIAS GRADE-2 AND HYDRO-URETERO NEPHROSIS, POSTAXIAL POLYDACTYLY - A DISTINCT MCA MR SYNDROME/
Clinical dysmorphology
VARIABLE PHENOTYPE IN KAUFMAN-MCKUSICK-SYNDROME - REPORT OF AN INBREDMUSLIM FAMILY AND REVIEW OF THE LITERATURE
Clinical dysmorphology
SYNDACTYLY, MICROGNATHIA AND SKELETAL ANOMALIES - A NEW SYNDROME
Clinical dysmorphology
ORAL-FACIAL-DIGITAL (OFD) SYNDROME WITH ASSOCIATED FEATURES - A NEW SYNDROME OR GENETIC-HETEROGENEITY AND VARIABILITY
Clinical dysmorphology
EARLY TRANSVAGINAL ULTRASONOGRAPHIC DIAGNOSIS OF BEEMER-LANGER DYSPLASIA - A REPORT OF 2 CASES
Ultrasound in obstetrics & gynecology
EVIDENCE THAT PREAXIAL POLYDACTYLY IN THE DOUBLEFOOT MUTANT IS DUE TOECTOPIC INDIAN HEDGEHOG SIGNALING
Development
THE ROLE OF CELL-DEATH IN LIMB DEVELOPMENT OF RATS MANIFESTING LX ALLELE ON DIFFERENT GENETIC BACKGROUNDS
European journal of morphology
URINARY HYDROCOLPOS, CLOACAL MALFORMATION AND PRE-AXIAL POLYDACTYLY -A RARE VARIANT OF NEONATAL HYDROCOLPOS
American journal of perinatology
TRANSVAGINAL SONOGRAPHIC DIAGNOSIS OF SHORT-RIB POLYDACTYLY DYSPLASIAAT 13 WEEKS GESTATION
Prenatal diagnosis
SHORT-RIB-POLYDACTYLY SYNDROME TYPE VERMA-NAUMOFF-LE-MAREC IN A FETUSWITH HISTOLOGICAL HALLMARKS OF TYPE SALDINO-NOONAN BUT LACKING INTERNAL ORGAN ABNORMALITIES
American journal of medical genetics
CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM-VROLIKIN AMSTERDAM, THE NETHERLANDS - III - PRIMARY FIELD DEFECTS, SEQUENCES, AND OTHER COMPLEX ANOMALIES
American journal of medical genetics
GREBE SYNDROME - CLINICAL AND RADIOGRAPHIC FINDINGS IN AFFECTED INDIVIDUALS AND HETEROZYGOUS CARRIERS
American journal of medical genetics
ASSOCIATION BETWEEN HOMEOBOX-CONTAINING GENE MSX1 AND THE OCCURRENCE OF LIMB DEFICIENCY
American journal of medical genetics
Associated anomalies in individuals with polydactyly
AMERICAN JOURNAL OF MEDICAL GENETICS
Lack of evidence of a major gene acting on postaxial polydactyly in South America
AMERICAN JOURNAL OF MEDICAL GENETICS
The congenital hallux varus
ZEITSCHRIFT FUR ORTHOPADIE UND IHRE GRENZGEBIETE
A REEVALUATION OF THE ORIGIN OF PENTADACTYLY
Evolution
CHANGES IN REGISTERED CONGENITAL-ANOMALIES IN THE REPUBLIC-OF-BYELARUS AFTER THE CHERNOBYL ACCIDENT
Stem cells
A SYNDROME OF BRACHYPHALANGY, POLYDACTYLY AND ABSENT TIBIAE
Clinical dysmorphology
FETAL SKELETAL MALFORMATIONS REVISITED - STEPS IN THE DIAGNOSTIC-APPROACH
Ultrasound in obstetrics & gynecology
POLYDACTYLY AND ECTOPIC ZPA FORMATION IN ALX-4 MUTANT MICE
Development
A NONCLASSIFIED PREAXIAL POLYDACTYLY OF THE FOOT
European journal of plastic surgery
POLYDACTYLY OF THE FOOT - MANIFESTATIONS AND TREATMENT
Journal of the Formosan Medical Association
EVIDENCE FOR GENETIC-CONTROL OF SONIC HEDGEHOG BY GLI3 IN MOUSE LIMB DEVELOPMENT
Mechanisms of development
POLYDACTYLY IN SHAMI BREED GOATS IN JORDAN
Small ruminant research
THE EPIDEMIOLOGY OF PREAXIAL LIMB MALFORMATIONS
Reproductive toxicology